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Hiperaldosteronismo genético
ORPHA:371861DOENÇA RARA

O hiperaldosteronismo familiar (FH) é a forma hereditária de aldosteronismo primário (PA), que compreende três subtipos identificados até o momento: FH tipo I (FH-I) caracterizado por hipertensão de início precoce, hiperaldosteronismo dependente do hormônio adrenocorticotrófico remediável por glicocorticóide (ACTH), hipocalemia variável e superprodução de 18-oxocortisol e 18-hidroxicortisol; HF tipo II (HF-II) caracterizada por hipertensão de gravidade variável e hiperaldosteronismo não suprimível pela dexametasona; e FH tipo III (FH-III) caracterizada por hipocalemia profunda, hipertensão grave de início precoce, hiperaldosteronismo não remediável com glicocorticóides e superprodução de 18-oxocortisol e 18-hidroxicortisol.

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Introdução

O que você precisa saber de cara

📋

O hiperaldosteronismo familiar (FH) é a forma hereditária de aldosteronismo primário (PA), que compreende três subtipos identificados até o momento: FH tipo I (FH-I) caracterizado por hipertensão de início precoce, hiperaldosteronismo dependente do hormônio adrenocorticotrófico remediável por glicocorticóide (ACTH), hipocalemia variável e superprodução de 18-oxocortisol e 18-hidroxicortisol; HF tipo II (HF-II) caracterizada por hipertensão de gravidade variável e hiperaldosteronismo não suprimível pela dexametasona; e FH tipo III (FH-III) caracterizada por hipocalemia profunda, hipertensão grave de início precoce, hiperaldosteronismo não remediável com glicocorticóides e superprodução de 18-oxocortisol e 18-hidroxicortisol.

Publicações científicas
190 artigos
Último publicado: 2026 Mar 6
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SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
14 sintomas
🫘
Rins
6 sintomas
❤️
Coração
5 sintomas
🦴
Ossos e articulações
2 sintomas
👂
Ouvidos
1 sintomas
💪
Músculos
1 sintomas

+ 18 sintomas em outras categorias

Características mais comuns

Hemorragia intracraniana
Zumbido
Epistaxe
Adenoma adrenocortical secretor
Polidipsia
Paralisia cerebral
49sintomas
Sem dados (49)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.

Hemorragia intracranianaIntracranial hemorrhage
ZumbidoTinnitus
EpistaxeEpistaxis
Adenoma adrenocortical secretorSecretory adrenocortical adenoma
PolidipsiaPolydipsia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa3
Total histórico190PubMed
Últimos 10 anos200publicações
Pico202479 papers
Linha do tempo
2023Hoje · 2026🧪 1999Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

6 genes identificados com associação a esta condição.

CACNA1DVoltage-dependent L-type calcium channel subunit alpha-1DDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkyla

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (4)
NCAM1 interactionsRegulation of insulin secretionAdrenaline,noradrenaline inhibits insulin secretionSensory processing of sound by inner hair cells of the cochlea
MECANISMO DE DOENÇA

Sinoatrial node dysfunction and deafness

A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia.

OUTRAS DOENÇAS (2)
aldosterone-producing adenoma with seizures and neurological abnormalitiessinoatrial node dysfunction and deafness
HGNC:1391UniProt:Q01668
CYP11B2Cytochrome P450 11B2, mitochondrialCandidate gene tested inTolerante
FUNÇÃO

A cytochrome P450 monooxygenase that catalyzes the biosynthesis of aldosterone, the main mineralocorticoid in the human body responsible for salt and water homeostasis, thus involved in blood pressure regulation, arterial hypertension, and the development of heart failure (PubMed:11856349, PubMed:12530636, PubMed:1518866, PubMed:15356073, PubMed:1594605, PubMed:1775135, PubMed:22446688, PubMed:23322723, PubMed:9814482, PubMed:9814506). Catalyzes three sequential oxidative reactions of 11-deoxyco

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (3)
Endogenous sterolsGlucocorticoid biosynthesisMineralocorticoid biosynthesis
MECANISMO DE DOENÇA

Corticosterone methyloxidase 1 deficiency

Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal.

EXPRESSÃO TECIDUAL(Tecido-específico)
Glândula adrenal
89.4 TPM
Testículo
0.2 TPM
Cervix Ectocervix
0.0 TPM
Baço
0.0 TPM
Fígado
0.0 TPM
OUTRAS DOENÇAS (4)
corticosterone methyloxidase type 1 deficiencycorticosterone methyloxidase type 2 deficiencyglucocorticoid-remediable aldosteronismearly-onset familial hypoaldosteronism
HGNC:2592UniProt:P19099
CYP11B1Cytochrome P450 11B1, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids (PubMed:12530636, PubMed:1518866, PubMed:1775135, PubMed:18215163, PubMed:23322723). Catalyzes a variety of reactions that are essential for many species, including detoxification, defense, and the formation of endogenous chemicals like steroid hormones. Steroid 11beta, 18- and 19-hydroxylase with preferred regioselectivity at 11beta, then 18, and lastly 19 (By similarity). Catalyzes the hydroxylation of 11-deoxyc

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (2)
Endogenous sterolsGlucocorticoid biosynthesis
MECANISMO DE DOENÇA

Adrenal hyperplasia 4

A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).

EXPRESSÃO TECIDUAL(Tecido-específico)
Glândula adrenal
4787.3 TPM
Testículo
6.4 TPM
Cervix Ectocervix
0.9 TPM
Fallopian Tube
0.5 TPM
Bladder
0.5 TPM
OUTRAS DOENÇAS (2)
glucocorticoid-remediable aldosteronismcongenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
HGNC:2591UniProt:P15538
CACNA1HVoltage-dependent T-type calcium channel subunit alpha-1HDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:27149520, PubMed:9670923, PubMed:9930755). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probabl

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (3)
NCAM1 interactionsSmooth Muscle ContractionMechanical load activates signaling by PIEZO1 and integrins in osteocytes
MECANISMO DE DOENÇA

Epilepsy, idiopathic generalized 6

A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.

OUTRAS DOENÇAS (3)
hyperaldosteronism, familial, type IVchildhood absence epilepsyepilepsy, childhood absence, susceptibility to, 6
HGNC:1395UniProt:O95180
CLCN2Chloride channel protein 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Voltage-gated and osmosensitive chloride channel. Forms a homodimeric channel where each subunit has its own ion conduction pathway. Conducts double-barreled currents controlled by two types of gates, two fast glutamate gates that control each subunit independently and a slow common gate that opens and shuts off both subunits simultaneously. Displays inward rectification currents activated upon membrane hyperpolarization and extracellular hypotonicity (PubMed:16155254, PubMed:17567819, PubMed:19

LOCALIZAÇÃO

Cell membraneBasolateral cell membraneCell projection, dendritic spine membraneCell projection, axon

VIAS BIOLÓGICAS (1)
Stimuli-sensing channels
MECANISMO DE DOENÇA

Epilepsy, idiopathic generalized 11

A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.

VIAS REACTOME (1)
OUTRAS DOENÇAS (4)
leukoencephalopathy with mild cerebellar ataxia and white matter edemafamilial hyperaldosteronism type IIjuvenile myoclonic epilepsyepilepsy, idiopathic generalized, susceptibility to, 11
HGNC:2020UniProt:P51788
KCNJ5G protein-activated inward rectifier potassium channel 4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium. This potassium channel is control

LOCALIZAÇÃO

Membrane

VIAS BIOLÓGICAS (2)
Activation of G protein gated Potassium channelsInhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
MECANISMO DE DOENÇA

Long QT syndrome 13

A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

EXPRESSÃO TECIDUAL(Tecido-específico)
Glândula adrenal
62.9 TPM
Pituitária
25.4 TPM
Baço
10.2 TPM
Pâncreas
8.2 TPM
Rim - Medula
6.3 TPM
OUTRAS DOENÇAS (5)
familial hyperaldosteronism type IIIlong QT syndrome 13familial atrial fibrillationAndersen-Tawil syndrome
HGNC:6266UniProt:P48544

Variantes genéticas (ClinVar)

831 variantes patogênicas registradas no ClinVar.

🧬 CACNA1D: NM_001128840.3(CACNA1D):c.698G>A (p.Gly233Asp) ()
🧬 CACNA1D: NM_001128840.3(CACNA1D):c.3323A>G (p.Tyr1108Cys) ()
🧬 CACNA1D: NM_001128840.3(CACNA1D):c.881T>G (p.Ile294Ser) ()
🧬 CACNA1D: NM_001128840.3(CACNA1D):c.2241C>G (p.Phe747Leu) ()
🧬 CACNA1D: NM_001128840.3(CACNA1D):c.6029A>G (p.Asp2010Gly) ()
Ver todas no ClinVar

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Publicações mais relevantes

Timeline de publicações
96 papers (10 anos)
#1

Germline and somatic genetic drivers of adrenocortical tumours.

Best practice & research. Clinical endocrinology & metabolism2026 Mar 18

Adrenal tumours affect 1-4% of the population, with a prevalence increasing with age, tumours arising from the adrenal cortex being the most frequent, unlike the adrenomedullary tumours. Adrenocortical tumours are defined by their benign or malignant potential, and unilateral or bilateral, hormone-producing or non-functioning nature. As any tumoral formation, all adrenocortical tumours are clonal proliferations driven by genetic events, whether by a germline predisposition or by somatic alterations. By summarizing the genetic findings of the last 30 years of adrenocortical research, this review covers both the known germline causes of inherited bilateral nodular adrenocortical diseases, familial forms of hyperaldosteronism and adrenocortical carcinomas, and the somatic variants and copy-number variations found in sporadic adrenocortical adenomas and carcinomas, emphasizing on the signalling pathways involved. It also gives practical recommendations for genetic screening in routine clinical practice and clues for future research on the genetic basis of adrenocortical tumorigenesis.

#2

Primary Hyperaldosteronism: Epidemiology, Diagnosis, and Clinical Associations.

Epidemiologia (Basel, Switzerland)2026 Mar 02

Primary aldosteronism (PA), the leading cause of secondary hypertension, results from autonomous aldosterone hypersecretion. It is characterized by increased extracellular volume, elevated cardiac output, and greater arterial stiffness compared with essential hypertension, reflecting aldosterone-mediated hemodynamic dysregulation. The prevalence and morbidity of PA are increasingly acknowledged; however, PA continues to be underdiagnosed because of limited screening and diagnostic complexity. A narrative review was conducted using PubMed (2015-2025), with terms targeting PA epidemiology, excluding treatment-focused studies. From 971 articles, 133 relevant studies (original research studies, reviews, meta-analyses) were included, addressing prevalence, risk factors, comorbidities, genetics, and diagnostic issues. PA prevalence in hypertensive populations is 5-10%, rising to 17.8% in young-onset and 20-30% in resistant hypertension. Screening indications include resistant/severe hypertension, hypokalemia, adrenal incidentaloma, young-onset disease, obstructive sleep apnea (59.8% comorbidity in hypertensive PA), and familial history, while a link may exist with papillary thyroid cancer. The aldosterone-renin ratio (ARR) is the primary screening tool, limited by assay variability and confounders (e.g., sodium intake). Confirmatory testing (such as with the saline infusion test) is often challenging to perform in routine practice. Adrenal venous sampling (AVS) is useful for subtyping unilateral (aldosterone-producing adenoma; APA; ~35-50%) vs. bilateral (idiopathic hyperaldosteronism; IHA) disease, despite technical challenges. Somatic mutations (e.g., KCNJ5, more frequent in Asians) and rare familial forms drive PA. Complications include cardiovascular events (Major Adverse Cardiovascular Events; MACE: 13.6% at 5.8 years), stroke, renal impairment (decreased eGFR, proteinuria), metabolic disorders (diabetes, obesity), and novel associations (vertebral fractures, renal stones, normal-tension glaucoma). Psychiatric comorbidities (depression/anxiety in 30-70% of patients) have been associated with central mineralocorticoid receptor effects, with sleep disturbances being prominent in females. Subclinical PA predicts hypertension and arterial stiffness. Improved screening protocols, standardized ARR cutoffs, and advanced imaging and genetic analyses are needed to enhance PA detection. Future research should validate cost-effective screening and clarify psychiatric-metabolic links for optimized management.

#3

Description of the novel variant c.784delG;p. (Ala262Profs*68) at BSND gene and its association with Bartter Syndrome Type Iva.

Biomedical reports2026 Apr

Bartter syndrome (BS) is a group of diseases caused by variants in genes related to salt reabsorption in the thick ascending limb of the loop of Henle. It causes dysregulation in salt homeostasis and is characterized by hyperplasia and hypertrophy of the juxtaglomerular apparatus, hyperaldosteronism, hypokalemic alkalosis and impaired growth and development. BS type IVa is caused by variants in BSND, which encodes Barttin, a subunit for chloride channels (CLC). This specific subtype also causes sensorineural deafness due to its impact on CLC-kidney a (Ka), a channel important for the production of endolymph in the inner ear. In the present study, the case of a Brazilian girl diagnosed with BS Iva was presented, whose molecular diagnosis revealed a novel variant, c.784delG;p.(Ala262Profs*68), compound heterozygous with c.139G>A;p.Gly47Arg. This novel variant appears to be the first BS IVa causing variant described in exon 4, which encodes for the later part of the cytoplasmatic C-terminal unstructured tail. In silico analysis of this variant predicted the resulting frameshift as disease causing, due to alteration in significant portion of the protein. While the authors suggest this variant may cause erroneous membrane sorting of the CLC type channels, further studies are necessary to elucidate the mechanism.

#4

Clinical implications of aldosterone responsiveness to adrenocorticotropic hormone stimulation in two major subtypes of primary aldosteronism.

Clinical and experimental hypertension (New York, N.Y. : 1993)2026 Dec 31

This study examined differences in aldosterone responsiveness to adrenocorticotropic hormone (ACTH) between the unilateral aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism (IHA) subtypes of primary aldosteronism (PA) and the impacts on vascular function and treatment outcomes. This retrospective study enrolled 97 patients with PA (63 with APA and 34 with IHA) who underwent adrenal venous sampling (AVS) with ACTH stimulation. During AVS, baseline and ACTH-stimulated plasma aldosterone concentration (PAC) and cortisol levels were also assessed. Vascular function was assessed by measuring flow-mediated dilation (FMD). APA tissues were analyzed for KCNJ5 mutations. Among 97 patients with PA, those with APA showed higher baseline and ACTH-stimulated plasma aldosterone concentration levels, which correlated inversely with FMD. In patients with IHA, the logarithmic difference between PAC measurements before and after ACTH stimulation correlated positively with the blood pressure-normalization effect after mineralocorticoid receptor antagonist (MRA) therapy, with a cutoff value of 2.140 for predicting treatment response. These findings suggest that ACTH-stimulated aldosterone may offer a useful marker for personalized management of PA, particularly in assessing vascular health and guiding MRA treatment. Aldosterone regulation plays a crucial role in maintaining intravascular and effective circulating plasma volume and potassium homeostasis. However, inappropriate regulation of aldosterone secretion results in adverse cardiovascular and metabolic consequences and can be encountered in several different phenotypes. Assessing plasma renin activity, in the presence or not of hypertension, is a simple method to approach hyperaldosteronism and define different etiologies. Several breakthroughs in genetic and histopathological research have resulted in a major paradigm shift in understanding the causes of primary aldosteronism (PA). Germline and somatic mutations in membrane channels, such as potassium channels, that maintain the resting potential of zona glomerulosa cells have been implicated in a large subset of aldosterone producing adenomas. Approaching the diagnosis of PA with an initial screening test of aldosterone/renin ratio (ARR) is recommended; an (ARR) >20 with concomitantly suppressed renin levels, is highly suggestive of PA. Confirmation of PA using established suppression tests in borderline cases should prompt further subtype evaluation, including imaging and, when appropriate, adrenal venous sampling to establish the source of aldosterone excess. Adrenal venous sampling (AVS) has been utilized to confirm the source of aldosterone secretion, as unilateral or bilateral, and prevent erroneous diagnoses and treatment plans. However, some emerging data suggest that the use of AVS may not influence outcomes as much as previously considered. In cases of unilateral PA, surgical treatment typically results in the cure of hyperaldosteronism, and substantial improvements in blood pressure and potassium homeostasis. In cases of bilateral disease, and in unilateral diseases where surgery is not feasible, medical management with mineralocorticoid receptor antagonists is usually effective. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.

#5

Early-onset hypertension associated with a CACNA1H variant of uncertain significance: a case report and literature review.

BMC cardiovascular disorders2026 Feb 04

The prevalence of early-onset hypertension is rising annually and is accompanied by progressive target organ damage, contributing to a higher risk of cardiovascular mortality. In patients with early-onset hypertension characterized by refractory hypertension, elevated plasma aldosterone levels, and a family history of hypertension, monogenic hereditary hypertension, such as familial hyperaldosteronism, should be suspected, although this condition is rare. A 36-year-old male patient with hypertension fails to achieve target blood pressure despite receiving four antihypertensive medications, including a diuretic. The patient exhibited elevated plasma aldosterone levels, while the aldosterone-to-renin ratio and serum potassium levels remain within normal ranges. Further genetic analysis identifies a heterozygous variant of uncertain significance in the CACNA1H gene (nucleotide change: c.3988G > A, amino acid change: p.V1330I, chromosomal location: chr16:1260601). This genetic variant has not been previously reported. The CACNA1H gene is associated with familial hyperaldosteronism type IV. Sanger sequencing validation and family pedigree analysis were performed, confirming an autosomal dominant inheritance pattern among family members. For patients with early-onset hypertension characterized by refractory hypertension, elevated plasma aldosterone levels, and a family history of hypertension, monogenic forms of hypertension, such as familial hyperaldosteronism, should be suspected. However, For patients with negative ARR but atypical clinical manifestations of elevated aldosterone levels, exclusive reliance on common biochemical markers, such as the aldosterone-to-renin ratio and serum potassium levels, may lead to misdiagnosis or underdiagnosis. Therefore, in addition to routine biochemical markers, genetic testing should be considered a complementary diagnostic tool for patients with early-onset hypertension and a family history of hypertension.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Germline and somatic genetic drivers of adrenocortical tumours.

Best practice & research. Clinical endocrinology & metabolism
2026

Primary Hyperaldosteronism: Epidemiology, Diagnosis, and Clinical Associations.

Epidemiologia (Basel, Switzerland)
2026

Description of the novel variant c.784delG;p. (Ala262Profs*68) at BSND gene and its association with Bartter Syndrome Type Iva.

Biomedical reports
2026

Clinical implications of aldosterone responsiveness to adrenocorticotropic hormone stimulation in two major subtypes of primary aldosteronism.

Clinical and experimental hypertension (New York, N.Y. : 1993)
2026

Early-onset hypertension associated with a CACNA1H variant of uncertain significance: a case report and literature review.

BMC cardiovascular disorders
2026

Pathogenesis of primary aldosteronism.

Vitamins and hormones
2026

Diagnosis of primary aldosteronism: Renin activity, renin concentration and aldosterone/renin ratio.

Vitamins and hormones
2026

Adrenal histologic and genetic characteristics of primary aldosteronism in late adulthood.

European journal of endocrinology
2025

The adrenal gland and primary aldosteronism: anatomy, steroidogenesis, regulation, and genetic insights.

Frontiers in endocrinology
2025

New mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.

Frontiers in medicine
2026

Rho/ROCK signaling and α-catenin mediate β-catenin-driven hyperplasia in the adrenal cortex via adherens junctions.

The Journal of clinical investigation
2026

[Endocrinology : what's new in 2025].

Revue medicale suisse
2026

Regulation of Aldosterone Secretion by Substance P and the Neurokinin Type 1 Receptor in Aldosterone-Producing Adenomas.

Journal of the American Heart Association
2026

A novel 2D and 3D model for primary adrenocortical carcinoma of advanced and metastasized stage co-secreting cortisol, aldosterone, testosterone, 18-oxocortisol and 18-hydroxycortisol.

Endocrine-related cancer
2025

Papillary thyroid carcinoma and primary aldosteronism: A new syndrome or a mere association?

World journal of clinical cases
2025

When teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood.

The Pan African medical journal
2026

FOS and JUN regulate oxidative stress and steroidogenesis in human aldosterone-producing adenomas.

Redox biology
2026

GWAS and Replication Analysis of Apparent Treatment-Resistant Hypertension.

Hypertension (Dallas, Tex. : 1979)
2026

Recurrent CACNA1HE282K is a gain-of-function mutation associated with primary hyperaldosteronism.

European journal of endocrinology
2025

Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up.

Frontiers in genetics
2025

Refractory hypercalcemic crisis: A case of primary hyperparathyroidism with Gitelman syndrome.

The Journal of international medical research
2025

Subclinical primary aldosteronism.

Archives of endocrinology and metabolism
2025

Regulation of Klotho Production by Mineralocorticoid Receptor Signaling in Renal Cell Lines.

Biomolecules
2025

Exploring Etiologies of Hypokalemic Paralysis: A Case Series.

The Journal of the Association of Physicians of India
2026

Acid-sensing ion channel 1a deficiency drives endocrine hypertension in male mice.

The Journal of physiology
2025

Primary aldosteronism complicated by early-onset heart failure in a young male with a coexisting DMD variant: A case report and literature review.

Medicine
2025

Molecular investigation of primary aldosteronism: exploring genetic heterogeneity in understudied populations.

Archives of endocrinology and metabolism
2025

Osmolarity Controls Oscillatory Calcium Signaling to Reduce Autonomous Aldosterone Production in Zona Glomerulosa Cells.

Endocrinology
2025

Novel Compound Heterozygous Mutation in the KCNJ1 Gene Causes Bartter Syndrome.

Nephrology (Carlton, Vic.)
2025

Adipose tissue signaling in aldosterone-producing adenomas: paracrine and endocrine effects.

European journal of endocrinology
2025

Glucocorticoid Remediable Aldosteronism in a Family with a Strong History of Cerebral Aneurysms and Hypertension.

Prague medical report
2025

[The relationship between surgical outcomes and KCNJ5 mutations and pathological classification in patients with unilateral primary aldosteronism].

Zhonghua xin xue guan bing za zhi
2025

[Analysis of a family with familial hyperaldosteronism type Ⅳ due to a mutation in the CACNA1H gene].

Zhonghua yi xue za zhi
2025

Histopathological features of aldosterone-producing lesions according to their different somatic genetic mutations.

Vitamins and hormones
2025

Somatic Mutations in MCOLN3 Are Associated With Aldosterone-Producing Adenomas.

Hypertension (Dallas, Tex. : 1979)
2026

An interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.

Hormones (Athens, Greece)
2025

Perirenal Adipose Tissue and Hypertension: Observational and Genetic Analyses.

Hypertension (Dallas, Tex. : 1979)
2025

Prolonged hypokalemia long after causative factor elimination in pseudo-Bartter/Gitelman syndrome.

Clinical and experimental nephrology
2025

[A case of extremely premature infant with type Ⅱ Bartter syndrome characterized by hyperkalemia].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

The Significance of High Expression of Circulating miR-222-3p in Patients With Unilateral Primary Aldosteronism.

The Journal of clinical endocrinology and metabolism
2025

Amnioreduction as a therapeutic strategy for MAGED2 -related Bartter syndrome: prolonging gestation and improving outcomes through genetic-guided prenatal management.

Clinical dysmorphology
2025

Case Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism.

Frontiers in pediatrics
2025

Generation of a Bartter syndrome type 3 patient-derived induced pluripotent stem cell line ISRM-BS3-UM18-iPSC (HHUUKDi014-A).

Stem cell research
2026

Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants.

Pediatric nephrology (Berlin, Germany)
2025

Improved and individualized approach to adrenal surgery.

Endocrine-related cancer
2025

Adrenal causes of endocrine hypertension in childhood or adolescence.

Journal of endocrinological investigation
2025

Searching for peripheral proteomic markers of primary aldosteronism.

Endocrine
2025

Proteomic signatures to detect unilateral primary aldosteronism in hypertensive patients.

European journal of clinical investigation
2025

Connecting the dots: renin-angiotensin-aldosterone system, vitamin D, and hypertension.

Journal of hypertension
2025

Intronic variants impacting SLC12A1 gene splicing in Bartter syndrome type 1: Characterization of a novel deep intronic variant via Whole-genome sequencing and minigene analysis.

Gene
2025

Intercalated Cell ClC-K2 Channel Contributes to Systemic Cl- Balance and Acid-Base Homeostasis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

Early reduction of skin potassium without sodium accumulation in the pathogenesis of salt sensitivity in primary aldosteronism.

Frontiers in pharmacology
2025

ABCC3 Is a Differential Marker of CYP11B2-Negative Zona Glomerulosa Cells in Human Adrenal Cortex.

Endocrine pathology
2025

Beclin-1-dependent autophagy protects perivascular adipose tissue function from hyperaldosteronism effects.

American journal of physiology. Heart and circulatory physiology
2025

Advances in the biochemical diagnostics of primary aldosteronism: from immunoassays to steroidomics and proteomics.

Frontiers in endocrinology
2025

Prevalence of KCNJ5 mutations in aldosterone-producing adenomas among Malaysian primary aldosteronism patients: Genotype-phenotype correlation.

The Malaysian journal of pathology
2025

Association between ARMC5 mutation with bilateral macronodular adrenal hyperplasia and primary aldosteronism: A case report.

Clinical nephrology
2025

Serum microRNAs as peripheral markers of primary aldosteronism.

Frontiers in endocrinology
2025

Fetal umbilical vein thrombosis associated with fetal bartter syndrome: an unusual case report and literature review.

BMC pregnancy and childbirth
2025

Causal association between genetically predicted primary aldosteronism and aortic aneurysm and aortic dissection: A Mendelian randomization study.

Medicine
2025

Hypocalcemic Tetany Transiently "Cured" by Pregnancy: A Case Report.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2025

Identification of hypertension subtypes using microRNA profiles and machine learning.

European journal of endocrinology
2025

MicroRNA-24-3p targeting Top1 in perirenal fat is involved in circulating inflammation and high cardiovascular disease risk in patients with primary aldosteronism.

Journal of translational medicine
2025

Rare Case of Adult-Onset Gitelman Syndrome in a Patient With Multiple Comorbidities: A Case Report.

Clinical case reports
2025

Plasmacytoid Dendritic Cell Content Is Associated With Plasma Aldosterone Concentration in Patients With Primary Aldosteronism.

American journal of hypertension
2025

Evaluation of Aldosterone Suppression by Cinnarizine, a Putative Cav1.3 Inhibitor.

The Journal of clinical endocrinology and metabolism
2025

Multiomics reveal key inflammatory drivers of severe obesity: IL4R, LILRA5, and OSM.

Cell genomics
2025

Multiomics analysis unveils the cellular ecosystem with clinical relevance in aldosterone-producing adenomas with KCNJ5 mutations.

Proceedings of the National Academy of Sciences of the United States of America
2025

Unilateral Primary Aldosteronism Lacking KCNJ5 Somatic Mutations Is Associated With an Elevated Risk of New-Onset Diabetes.

Diabetes
2025

Bartter syndrome as natural experiment if furosemide (re)opens the ductus arteriosus.

Pediatric research
2025

Modulation of Calcium Signaling on Demand to Decipher the Molecular Mechanisms of Primary Aldosteronism.

Hypertension (Dallas, Tex. : 1979)
2024

An early onset Gitelman syndrome presenting in a boy with failure to thrive with recurrent hypokalemia and hypomagnesemia: a case report.

The Pan African medical journal
2024

Shifting paradigms in primary aldosteronism: reconsideration of screening strategy via integrating pathophysiological insights.

Frontiers in endocrinology
2024

Neonatal pseudo-hypoaldosteronism type 1 with a novel NR3C2 gene variant.

Sudanese journal of paediatrics
2025

Clinical Utility of Dual-Time 68Ga-Pentixafor PET/CT in Diagnosing and Subtyping Primary Aldosteronism.

Clinical endocrinology
2025

EGR1 regulates oxidative stress and aldosterone production in adrenal cells and aldosterone-producing adenomas.

Redox biology
2025

Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.

American journal of hypertension
2025

Integrative bioinformatics approach identifies novel drug targets for hyperaldosteronism, with a focus on SHMT1 as a promising therapeutic candidate.

Scientific reports
2025

KCNJ5 Somatic Mutations Are Associated With Better Long-term Outcomes in Patients With Unilateral Primary Aldosteronism.

The Journal of clinical endocrinology and metabolism
2025

Renin-independent aldosteronism and metabolic dysfunction-associated steatotic liver disease and cirrhosis: A genetic association study.

Clinical nutrition (Edinburgh, Scotland)
2025

ATP2A3 in Primary Aldosteronism: Machine Learning-Based Discovery and Functional Validation.

Hypertension (Dallas, Tex. : 1979)
2025

Clinical comparison and genetic analysis in pheochromocytoma with primary aldosteronism.

Endocrine journal
2024

Chronological outcomes of renal function after adrenalectomy in patients with primary aldosteronism across age groups.

Frontiers in endocrinology
2025

Attenuation of Hypertension and protection of vascular inflammation in hyperaldosteronism: GPER1 as potential therapeutic candidate when MR antagonist is less satisfying?

Endocrine
2024

Influence of smoking on cardiometabolic profile and surgical outcomes in patients with primary aldosteronism: a cohort study.

European journal of endocrinology
2024

Targeted multiplex proteomics for the development and validation of biomarkers in primary aldosteronism subtyping.

European journal of endocrinology
2024

Comparative Analysis of Liquid Chromatography-Tandem Mass Spectrometry and Radioimmunoassay in Determining Plasma Aldosterone Concentration and Plasma Renin Activity for Primary Aldosteronism Screening.

Endocrinology and metabolism (Seoul, Korea)
2025

Evolutionary Characteristics in Primary Aldosteronism Patients.

Hypertension (Dallas, Tex. : 1979)
2024

Finerenone as a Novel Treatment for Gitelman Syndrome: A Case Study of a 35-Year-Old Male with Adrenal Mass and Hypokalemia.

The American journal of case reports
2025

Pseudo-Bartter syndrome: A CFTR-related disorder?

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
2024

Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship - a case report.

BMC pediatrics
2024

Aldosterone-induced salt appetite requires HSD2 neurons.

JCI insight
2025

Cardiovascular and arrhythmic manifestations of Bartter's and Gitelman's syndromes: do not forget the heart. A narrative literature review.

Journal of hypertension
2025

Two-hit model for the development of aldosterone-producing adenoma: supporting from two new cases.

Journal of hypertension
2024

Somatic GNAQ, CTNNB1, and CACNA1C Mutations in Cat Aldosterone-Secreting Tumors.

Hypertension (Dallas, Tex. : 1979)
2024

Circulating miRNAs and Machine Learning for Lateralizing Primary Aldosteronism.

Hypertension (Dallas, Tex. : 1979)
2024

ClC-Kb pore mutation disrupts glycosylation and triggers distal tubular remodeling.

JCI insight
2024

Immunohistochemical expression of CYP11A1, CYP11B, CYP17, and HSD3B2 in functional and nonfunctional canine adrenocortical tumors.

Journal of veterinary internal medicine
2024

Clinical Features and Unusual Heterozygous Mutations in Patients with Renal Hypokalemia.

Clinical laboratory
2024

Primary Aldosteronism Influences Cardiac Structure, Function, and Disease Risk: Evidence From Mendelian Randomization Analysis.

Journal of clinical hypertension (Greenwich, Conn.)
2024

Water and Electrolyte Content in Hypertension in the Skin (WHYSKI) in Primary Aldosteronism.

Hypertension (Dallas, Tex. : 1979)
2024

Screening and treatment of endocrine hypertension focusing on adrenal gland disorders: a narrative review.

Journal of Yeungnam medical science
2024

An Unusual Case of Myoglobin Cast Nephropathy in a Patient with Bartter Syndrome: A Rare Entity.

The Journal of the Association of Physicians of India
2024

Untangling the Uncertain Role of Overactivation of the Renin-Angiotensin-Aldosterone System with the Aging Process Based on Sodium Wasting Human Models.

International journal of molecular sciences
2024

SLC12A1 variant c.1684+1 G>A causes Bartter syndrome type 1 by promoting exon 13 skipping.

Nephrology (Carlton, Vic.)
2024

Exploring the pathogenesis linking primary aldosteronism and obstructive sleep apnea via bioinformatic analysis.

Medicine
2024

Genetic testing for familial hyperaldosteronism type 1 in Aotearoa/New Zealand.

Internal medicine journal
2024

A New Case Report of a CLCNKB Complex Heterozygous Mutation in Adult-Onset Type III Bartter Syndrome.

Clinical laboratory
2024

[Two cases of Dent disease type 1 with Bartter-like phenotype and literature review].

Zhonghua yi xue za zhi
2024

[Research progress of KCNJ5 gene in aldosterone-producing adenoma].

Sheng li xue bao : [Acta physiologica Sinica]
2025

A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.

Clinica chimica acta; international journal of clinical chemistry
2025

Primary Aldosteronism and Hypokalemia-induced Rhabdomyolysis in a Patient with Aldosterone-producing Adenoma: A Case Report and Literature Review.

Internal medicine (Tokyo, Japan)
2024

Unveiling the Causal Relationship of Cardiovascular Burden in Primary Aldosteronism by Genome-Wide Association and Mendelian Randomization: A Possible Solution?

Journal of the American Heart Association
2024

Primary Aldosteronism and Risk of Cardiovascular Outcomes: Genome-Wide Association and Mendelian Randomization Study.

Journal of the American Heart Association
2025

Genetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature.

The Journal of clinical endocrinology and metabolism
2024

Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review.

Frontiers in genetics
2024

Impact of primary aldosteronism on kidney function: results from the SPAIN-ALDO registry.

Journal of hypertension
2025

X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.

Genetics in medicine : official journal of the American College of Medical Genetics
2024

Rare correlation of somatic PRKACA mutations with pregnancy-associated aldosterone- and cortisol-producing adenomas: a case report and literature review.

BMC endocrine disorders
2024

Paradoxes in magnesium transport in type 1 Bartter's syndrome and Gitelman's syndrome: a modeling analysis.

American journal of physiology. Renal physiology
2024

[Two Cases of Pseudo-Bartter Syndrome in Childhood: When to Suspect a Rare Onset Pattern of Cystic Fibrosis].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
2024

Macrophages preserve endothelial cell specialization in the adrenal gland to modulate aldosterone secretion and blood pressure.

Cell reports
2024

Postnatal renal tubule development: roles of tubular flow and flux.

Current opinion in nephrology and hypertension
2024

Double CYP11B1/CYP11B2 Immunohistochemistry and Detection of KCNJ5 Mutations in Primary Aldosteronism.

The Journal of clinical endocrinology and metabolism
2024

Bartter Syndrome Presenting as Arginine-Vasopressin Resistance: A Report of 2 Cases.

The American journal of case reports
2024

Monogenic Hypertension Linked to the Renin-Angiotensin-Aldosterone System.

Anatolian journal of cardiology
2024

Report on three cases of familial primary aldosteronism type IV.

Journal of hypertension
2024

[Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2024

Protein Quality Control of NKCC2 in Bartter Syndrome and Blood Pressure Regulation.

Cells
2024

KCNJ5 mutations in familial and non-familial primary aldosteronism.

European journal of endocrinology
2024

The influence of cortisol co-secretion on clinical characteristics and postoperative outcomes in unilateral primary aldosteronism.

Frontiers in endocrinology
2024

Polymyxin B-induced Bartter syndrome.

BMJ case reports
2024

The association between blood pressure variability and renal damage in patients with primary aldosteronism.

Journal of clinical hypertension (Greenwich, Conn.)
2024

Cardiovascular Outcomes of KCNJ5 Mutated Aldosterone-Producing Adenoma: A Systematic Review.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
2024

Review of childhood genetic nephrolithiasis and nephrocalcinosis.

Frontiers in genetics
2024

17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.

Internal medicine (Tokyo, Japan)
2024

Zona Glomerulosa-Derived Klotho Modulates Aldosterone Synthase Expression in Young Female Mice.

Endocrinology
2024

Familial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.

European journal of endocrinology
2024

Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.

Endocrine journal
2024

Practical consensus for the treatment and follow-up of primary aldosteronism: a multidisciplinary consensus document.

Endocrine
2024

Double somatic mutations in CTNNB1 and GNA11 in an aldosterone-producing adenoma.

Frontiers in endocrinology
2024

Differences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism.

Frontiers in endocrinology
2024

AUP1 Regulates the Endoplasmic Reticulum-Associated Degradation and Polyubiquitination of NKCC2.

Cells
2024

Screening and diagnosis of primary aldosteronism. Consensus document of all the Spanish Societies involved in the management of primary aldosteronism.

Endocrine
2024

MicroRNAs in aldosterone production and action.

Vitamins and hormones
2024

Bartter syndrome-like phenotype in a patient with type 2 diabetes mellitus.

BMJ case reports
2024

Chronic activation of adrenal Gq signaling induces Cyp11b2 expression in the zona fasciculata and hyperaldosteronism.

Molecular and cellular endocrinology
2024

Unilateral Primary Aldosteronism: Long-Term Disease Recurrence After Adrenalectomy.

Hypertension (Dallas, Tex. : 1979)
2024

A case of pseudo-Bartter/Gitelman syndrome caused by long-term laxative abuse, leading to end-stage kidney disease.

CEN case reports
2024

Pseudo-Bartter syndrome as the initial presentation of cystic fibrosis in children: an important diagnosis not to be missed.

BMJ case reports
2024

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.

BMC medical genomics
2024

Renin as a Biomarker to Guide Medical Treatment in Primary Aldosteronism Patients. Findings from the SPAIN-ALDO Registry.

High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension
2024

No extra-adrenal aldosterone production in various human cell lines.

Journal of molecular endocrinology
2024

Multifocal, Asymmetric Bilateral Primary Aldosteronism Cannot be Excluded by Strong Adrenal Vein Sampling Lateralization: An International Retrospective Cohort Study.

Hypertension (Dallas, Tex. : 1979)
2024

Successful antenatal treatment of MAGED2-related Bartter syndrome and review of treatment options and efficacy.

Prenatal diagnosis
2024

Clinical analysis of salt-wasting in infants due to genetic aetiology.

Endokrynologia Polska
2024

Epigenetic alterations of 11beta-hydroxysteroid dehydrogenase 1 gene in the adipose tissue of patients with primary aldosteronism.

Endocrine journal
2023

Cross-Disciplinary Approach of Adrenal Tumors: Insights into Primary Aldosteronism-Related Mineral Metabolism Status and Osteoporotic Fracture Risk.

International journal of molecular sciences
2023

Primary aldosteronism and lower-extremity arterial disease: a two-sample Mendelian randomization study.

Cardiovascular diabetology
2024

Water and Electrolyte Content in Salt-Dependent HYpertension in the SKIn (WHYSKI): Effect of Surgical Cure of Primary Aldosteronism.

High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension
2024

Bartter Syndrome Unveiled: Unraveling the Masquerade of Neuroregression.

Indian journal of pediatrics
2024

Urine steroid metabolomics as a diagnostic tool in primary aldosteronism.

The Journal of steroid biochemistry and molecular biology
2024

The predictors of long-term outcomes after targeted therapy for primary Aldosteronism.

Journal of the Formosan Medical Association = Taiwan yi zhi
2024

Single-Nucleus Analysis Reveals Tumor Heterogeneity of Aldosterone-Producing Adenoma.

Hypertension (Dallas, Tex. : 1979)
2023

Long-Term Indomethacin Treatment in a Chinese Child with Gitelman Syndrome: Case Report and Literature Review on its Efficacy and Tolerance.

The American journal of case reports
2023

Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.

International journal of molecular sciences
2024

Recurrent transient severe hypocalcaemia in two siblings with type 1 Bartter syndrome.

Nephrology (Carlton, Vic.)
2023

[Mechanism of miR-186-5p Regulating PRKAA2 to Promote Ferroptosis 
in Lung Adenocarcinoma Cells].

Zhongguo fei ai za zhi = Chinese journal of lung cancer
2023

Liddle syndrome presenting with normal aldosterone levels: A case report.

Medicine
2024

Is adrenal venous sampling always necessary to differentiate between unilateral and bilateral primary aldosteronism? Lesson from the SPAIN-ALDO register.

Endocrine
2023

Rewriting DNA in the body lowers cholesterol.

Science (New York, N.Y.)
2023

Genome mining yields putative disease-associated ROMK variants with distinct defects.

PLoS genetics
2023

Therapeutic management of congenital forms of endocrine hypertension.

European journal of endocrinology
2023

CACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals.

Hypertension (Dallas, Tex. : 1979)
2023

Uncommon Presentation of Cystic Fibrosis: A Case Report and Literature Review.

Cureus
2024

Clinical Research on Rett Syndrome: Central Hypoxemia and Hypokalemic Metabolic Alkalosis.

Alternative therapies in health and medicine
2023

Pathology and gene mutations of aldosterone-producing lesions.

Endocrine journal
2023

Bartter Syndrome: A Systematic Review of Case Reports and Case Series.

Medicina (Kaunas, Lithuania)
2023

Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism.

Nature genetics
2023

Mechanism of DYRK1a in myocardial ischemia-reperfusion injury by regulating ferroptosis of cardiomyocytes.

The Kaohsiung journal of medical sciences
2023

Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities.

JCI insight
2023

Emerging association between KCNJ5 mutations and vascular failure in primary aldosteronism.

Hypertension research : official journal of the Japanese Society of Hypertension
2023

Pattern of hereditary renal tubular disorders in Egyptian children.

The Turkish journal of pediatrics
2024

ATP1A1-linked diseases require a malfunctioning protein product from one allele.

Biochimica et biophysica acta. Molecular cell research
2023

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.

Genome medicine
2023

Primary aldosteronism: molecular medicine meets public health.

Nature reviews. Nephrology
2023

A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate.

Birth defects research
2023

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.

Scientific reports
2023

Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.

Archives of medical research
2024

Adrenal Anion Channels: New Roles in Zona Glomerulosa Physiology and in the Pathophysiology of Primary Aldosteronism.

Handbook of experimental pharmacology
2023

KCNJ5 mutation is a predictor for recovery of endothelial function after adrenalectomy in patients with aldosterone-producing adenoma.

Hypertension research : official journal of the Japanese Society of Hypertension
2023

Decaying kidney function during cirrhosis correlates with remodeling of distal colon aldosterone target gene expression.

American journal of physiology. Gastrointestinal and liver physiology
2023

Relevance of KCNJ5 in Pathologies of Heart Disease.

International journal of molecular sciences
2023

Effect of Obesity on Clinical Characteristics of Primary Aldosteronism Patients at Diagnosis and Postsurgical Response.

The Journal of clinical endocrinology and metabolism
2023

CaV3.2 (CACNA1H) in Primary Aldosteronism.

Handbook of experimental pharmacology
2023

Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.

Nature genetics
2023

A Novel Enzymatic Hydrolysis Method for Urine Aldosterone Quantification: A Case for Reassessing Clinical Cut-Offs of Primary Aldosteronism.

Clinical chemistry
2023

Gitelman Syndrome: A Case Report.

Cureus
2023

Renin-independent aldosteronism and chronic kidney disease in diabetes: Observational and Mendelian randomization analyses.

Metabolism: clinical and experimental

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Germline and somatic genetic drivers of adrenocortical tumours.
    Best practice & research. Clinical endocrinology & metabolism· 2026· PMID 41876309mais citado
  2. Primary Hyperaldosteronism: Epidemiology, Diagnosis, and Clinical Associations.
    Epidemiologia (Basel, Switzerland)· 2026· PMID 41873981mais citado
  3. Description of the novel variant c.784delG;p. (Ala262Profs*68) at BSND gene and its association with Bartter Syndrome Type Iva.
    Biomedical reports· 2026· PMID 41821755mais citado
  4. Clinical implications of aldosterone responsiveness to adrenocorticotropic hormone stimulation in two major subtypes of primary aldosteronism.
    Clinical and experimental hypertension (New York, N.Y. : 1993)· 2026· PMID 41761656mais citado
  5. Early-onset hypertension associated with a CACNA1H variant of uncertain significance: a case report and literature review.
    BMC cardiovascular disorders· 2026· PMID 41639773mais citado
  6. One-stop evaluation using [(68)Ga]Ga-Pentixafor PET integrated with contrast-enhanced CT for visualization and localization of adrenal nodules in patients with primary aldosteronism.
    Jpn J Radiol· 2026· PMID 41790412recente
  7. New mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.
    Front Med (Lausanne)· 2025· PMID 41601799recente
  8. Primary Aldosteronism: Small Molecule Antagonists of Mutant KCNJ5 Potassium Channels.
    Hypertension· 2026· PMID 41263073recente
  9. Familial Hyperaldosteronism Type IV in a Mother-Daughter Pair.
    Am J Hypertens· 2026· PMID 41191643recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:371861(Orphanet)
  2. MONDO:0016525(MONDO)
  3. GARD:20630(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q25339349(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Hiperaldosteronismo genético
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Hiperaldosteronismo genético

ORPHA:371861 · MONDO:0016525
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