O Hiperaldosteronismo Familiar (HF) é a forma herdada de hiperaldosteronismo primário (HP), que inclui, até agora, três subtipos identificados: O HF tipo I (HF-I) é caracterizado por pressão alta (hipertensão) que começa cedo, um excesso de aldosterona que melhora com glicocorticoides e depende do hormônio ACTH (adrenocorticotrófico), níveis variáveis de potássio baixo (hipocalemia), e produção excessiva de 18-oxocortisol e 18-hidroxicortisol. O HF tipo II (HF-II) é caracterizado por pressão alta (hipertensão) com gravidade variável e um excesso de aldosterona que não diminui com dexametasona. E o HF tipo III (HF-III) é caracterizado por nível muito baixo de potássio (hipocalemia profunda), pressão alta grave que começa cedo (hipertensão grave de início precoce), excesso de aldosterona que não melhora com glicocorticoides, e produção excessiva de 18-oxocortisol e 18-hidroxicortisol.
Introdução
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O Hiperaldosteronismo Familiar (HF) é a forma herdada de hiperaldosteronismo primário (HP), que inclui, até agora, três subtipos identificados: O HF tipo I (HF-I) é caracterizado por pressão alta (hipertensão) que começa cedo, um excesso de aldosterona que melhora com glicocorticoides e depende do hormônio ACTH (adrenocorticotrófico), níveis variáveis de potássio baixo (hipocalemia), e produção excessiva de 18-oxocortisol e 18-hidroxicortisol. O HF tipo II (HF-II) é caracterizado por pressão alta (hipertensão) com gravidade variável e um excesso de aldosterona que não diminui com dexametasona. E o HF tipo III (HF-III) é caracterizado por nível muito baixo de potássio (hipocalemia profunda), pressão alta grave que começa cedo (hipertensão grave de início precoce), excesso de aldosterona que não melhora com glicocorticoides, e produção excessiva de 18-oxocortisol e 18-hidroxicortisol.
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1/10kPouco freq.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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. Padrão de herança: Autosomal dominant.
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
Membrane
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.
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
Mitochondrion inner membrane
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.
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
Mitochondrion inner membrane
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).
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
Cell membrane
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.
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
Cell membraneBasolateral cell membraneCell projection, dendritic spine membraneCell projection, axon
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.
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
Membrane
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.
Variantes genéticas (ClinVar)
831 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 331 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
14 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
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Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Publicações mais relevantes
One-stop evaluation using [68Ga]Ga-Pentixafor PET integrated with contrast-enhanced CT for visualization and localization of adrenal nodules in patients with primary aldosteronism.
To evaluate the diagnostic utility of integrating [68Ga]Ga-Pentixafor PET with contrast-enhanced CT (CECT) for the visualization and localization of adrenal lesions in patients with primary aldosteronism (PA). Thirty-five patients with clinically suspected PA who underwent [68Ga]Ga-Pentixafor PET and integrated CECT scans were retrospectively enrolled in this study. Adrenal lesions were identified and segmented using non-threshold methods. PET parameters (SUVmax, lesion-to-contralateral adrenal ratio [LCR], lesion-to-liver ratio [LLR]) and CT parameters (attenuation values, absolute and relative washout) were measured, and their correlations were analyzed. Abdominopelvic CT angiography was reconstructed to rule out vasogenic hypertension, and three-dimensional volume reconstruction from CECT data was applied for the visualization and localization of adrenal lesions. Additionally, a logistic regression model with cross-validation was constructed to predict aldosterone-producing adenomas (APA). Among these 35 patients, a total of 56 adrenal lesions including APA (n = 26), idiopathic hyperplasia (IHA, n = 26), nonfunctioning adenomas (NFA, n = 3), and familial hyperaldosteronism (n = 1) were identified and segmented from both [68Ga]Ga-Pentixafor PET and CECT images. APA demonstrated significantly higher SUVmax, LCR, and LLR, as well as lower delayed-phase CT values and greater absolute/relative washout compared with non-APA lesions (P < 0.05). One (1/35) patient exhibited mild renal artery stenosis, while no patients were found to have other renal abnormalities. A multivariable model incorporating SUVmax, relative washout, and diameter of lesions, achieved excellent discrimination between APA and non-APA lesions (area under the curve [AUC] = 0.912), outperforming individual parameters. The integration of [68Ga]Ga-Pentixafor PET with CECT provides a non-invasive, comprehensive diagnostic approach for PA, enhancing lesion detection, subtype classification, and surgical planning, which may be incorporated into clinical practice.
Early-onset hypertension associated with a CACNA1H variant of uncertain significance: a case report and literature review.
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.
Familial Hyperaldosteronism Type IV in a Mother-Daughter Pair.
New mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.
Primary aldosteronism (PA) is an endocrine disorder characterized by the autonomous, excessive production of aldosterone from the adrenal glands. Familial hyperaldosteronism (FH) is one type of PA. FH is further subclassified into types I through IV according to different gene mutations. This paper reports a case of unilateral adrenal hyperplasia with germline CACNA1H mutation, p.His515Tyr and p.Tyr613Phe, confirmed by endocrine test, whole exome sequencing and Sanger sequencing 4 years after onset. The variants located within N-terminal close to the first transmembrane domain of the protein that was highly conserved across different species. Polyphen2 and PROVEAN predicted p.Tyr613Phe to be probably damaging and deleterious. These findings broaden the genetic spectrum of PA and offer novel insights into the molecular mechanisms driving excessive aldosterone production. Therefore, genetic sequencing is recommended for PA patients whose etiology remains unclear after standard clinical evaluation.
Primary Aldosteronism: Small Molecule Antagonists of Mutant KCNJ5 Potassium Channels.
Mutations in the KCNJ5 (potassium inwardly rectifying channel subfamily J member 5) gene, encoding an inwardly rectifying potassium channel, can drive aldosterone overproduction in a subset of aldosterone-producing adenomas and in familial hyperaldosteronism type III. Our objective was to identify small molecule compounds that specifically antagonize mutant KCNJ5 channels. Virtual screening of over 6 million small molecules identified compounds that putatively bind to KCNJ5 channels. The effect of 108 of these candidates was evaluated in vitro in human adrenocortical cells (HAC15) with inducible expression of wild-type or mutated forms of KCNJ5. Assessment encompassed cell viability, flow cytometry, gene expression, and adrenal steroid quantification via liquid chromatography-tandem mass spectrometry. Compounds antagonizing mutated KCNJ5 function were identified by evaluating their ability to rescue adrenal cell death induced by overexpression of mutant KCNJ5. A spiroquinoline compound, referred to as compound 81 (C81), effectively rescued cell death induced by KCNJ5 L168R in both monolayer and spheroid HAC15 cell cultures. C81 treatment caused a 69% to 85% reduction in CYP11B2 (aldosterone synthase) mRNA levels induced by KCNJ5 L168R, G151R, or T158A expression, compared with untreated cells. C81 also reduced aldosterone secretion by 65% in cells expressing KCNJ5 L168R and decreased 18-oxocortisol and 18-hydroxycortisol production by 78% and 90%, respectively. However, C81 had no significant effect on steroid secretion in cells overexpressing wild-type KCNJ5. C81 shows potential as a small molecule antagonist to specifically target pathological aldosterone secretion in familial hyperaldosteronism type III or KCNJ5-mutated aldosterone-producing adenomas. These findings suggest new avenues for genotype-based primary aldosteronism diagnostics and targeted treatments, contributing to personalized patient care.
Publicações recentes
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.
Early-onset hypertension associated with a CACNA1H variant of uncertain significance: a case report and literature review.
New mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.
Primary Aldosteronism: Small Molecule Antagonists of Mutant KCNJ5 Potassium Channels.
Familial Hyperaldosteronism Type IV in a Mother-Daughter Pair.
📚 EuropePMC72 artigos no totalmostrando 103
One-stop evaluation using [68Ga]Ga-Pentixafor PET integrated with contrast-enhanced CT for visualization and localization of adrenal nodules in patients with primary aldosteronism.
Japanese journal of radiologyEarly-onset hypertension associated with a CACNA1H variant of uncertain significance: a case report and literature review.
BMC cardiovascular disordersNew mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.
Frontiers in medicinePrimary Aldosteronism: Small Molecule Antagonists of Mutant KCNJ5 Potassium Channels.
Hypertension (Dallas, Tex. : 1979)Familial Hyperaldosteronism Type IV in a Mother-Daughter Pair.
American journal of hypertensionGlucocorticoid Remediable Aldosteronism in a Family with a Strong History of Cerebral Aneurysms and Hypertension.
Prague medical report[Analysis of a family with familial hyperaldosteronism type Ⅳ due to a mutation in the CACNA1H gene].
Zhonghua yi xue za zhiFamilial hyperaldosteronism as a cause of secondary hypertension: a case report in pediatric age.
NefrologiaAdrenal causes of endocrine hypertension in childhood or adolescence.
Journal of endocrinological investigationDecoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.
American journal of hypertensionA Case of Primary Aldosteronism Masquerading as Bartter and Gitelman Syndromes.
CureusGenetic testing for familial hyperaldosteronism type 1 in Aotearoa/New Zealand.
Internal medicine journalGenetic Testing for Primary Aldosteronism in SPAIN: Results From the SPAIN-ALDO Registry and Review of the Literature.
The Journal of clinical endocrinology and metabolismMonogenic Hypertension Linked to the Renin-Angiotensin-Aldosterone System.
Anatolian journal of cardiologyReport on three cases of familial primary aldosteronism type IV.
Journal of hypertensionKCNJ5 mutations in familial and non-familial primary aldosteronism.
European journal of endocrinologyFamilial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.
European journal of endocrinologyDifferences in the clinical and hormonal presentation of patients with familial and sporadic primary aldosteronism.
Frontiers in endocrinologyEfficacy comparison between iliosacral screw fixation of the posterior pelvic ring fracture with the assistance of modified percutaneous three-dimensional printing guide template and conventional fluoroscopy.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesWhat We Know about and What Is New in Primary Aldosteronism.
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Biomaterials[Mechanism of miR-186-5p Regulating PRKAA2 to Promote Ferroptosis in Lung Adenocarcinoma Cells].
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Journal of materials chemistry. BRewriting DNA in the body lowers cholesterol.
Science (New York, N.Y.)Therapeutic management of congenital forms of endocrine hypertension.
European journal of endocrinologyCACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals.
Hypertension (Dallas, Tex. : 1979)Pathology and gene mutations of aldosterone-producing lesions.
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The Kaohsiung journal of medical sciencesRelevance of KCNJ5 in Pathologies of Heart Disease.
International journal of molecular sciencesCaV3.2 (CACNA1H) in Primary Aldosteronism.
Handbook of experimental pharmacologySystematic Review of Therapeutic Agents and Long-Term Outcomes of Familial Hyperaldosteronism Type 1.
Hypertension (Dallas, Tex. : 1979)[Current status and reflections of familial hyperaldosteronism].
Zhonghua nei ke za zhiPathophysiologic approach in genetic hypokalemia: An update.
Annales d'endocrinologieDiagnosis, treatment and genetic analysis of a case of familial aldosteronism type II with WFS1 gene mutation.
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Nature communicationsPathophysiology of bilateral hyperaldosteronism.
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Archives of endocrinology and metabolismGenetics of Primary Aldosteronism.
Hypertension (Dallas, Tex. : 1979)Characteristics and Outcomes in Primary Aldosteronism Patients Harboring Glucocorticoid-Remediable Aldosteronism.
BiomedicinesProgress on Genetic Basis of Primary Aldosteronism.
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Proceedings of the National Academy of Sciences of the United States of AmericaCushing Syndrome in a Pediatric Patient With a KCNJ5 Variant and Successful Treatment With Low-dose Ketoconazole.
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European journal of endocrinologyA somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma.
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Clinical endocrinologyRecent Developments in Primary Aldosteronism.
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The Journal of steroid biochemistry and molecular biologyProspective validation of an automated chemiluminescence-based assay of renin and aldosterone for the work-up of arterial hypertension.
Clinical chemistry and laboratory medicineBilateral Idiopathic Adrenal Hyperplasia: Genetics and Beyond.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeAn Update on Familial Hyperaldosteronism.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeHyperplasia in glands with hormone excess.
Endocrine-related cancerInherited forms of mineralocorticoid hypertension.
Best practice & research. Clinical endocrinology & metabolismPrimary aldosteronism: challenges in diagnosis and management.
Endocrinology and metabolism clinics of North AmericaThe molecular basis of primary aldosteronism: from chimeric gene to channelopathy.
Current opinion in pharmacologyAssociações
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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.
- One-stop evaluation using [68Ga]Ga-Pentixafor PET integrated with contrast-enhanced CT for visualization and localization of adrenal nodules in patients with primary aldosteronism.
- Early-onset hypertension associated with a CACNA1H variant of uncertain significance: a case report and literature review.
- Familial Hyperaldosteronism Type IV in a Mother-Daughter Pair.
- New mutation of CACNA1H p.Tyr613Phe in hyperaldosteronism: a case report.
- Primary Aldosteronism: Small Molecule Antagonists of Mutant KCNJ5 Potassium Channels.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:235936(Orphanet)
- MONDO:0016525(MONDO)
- GARD:20630(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1640860(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.
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