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
O que você precisa saber de cara
Hiperaldosteronismo familiar é um grupo de condições herdadas nas quais as glândulas adrenais, que são pequenas glândulas localizadas acima de cada rim, produzem excesso do hormônio aldosterona. A aldosterona ajuda a controlar a quantidade de sal retida pelos rins. O excesso de aldosterona faz com que os rins retenham mais sal do que o normal, o que, por sua vez, aumenta os níveis de fluidos no corpo e a pressão arterial. Pessoas com hiperaldosteronismo familiar podem desenvolver pressão arterial alta grave (hipertensão), frequentemente cedo na vida. Sem tratamento, a hipertensão aumenta o risco de derrames, ataques cardíacos e insuficiência renal.
O hiperaldosteronismo familiar é categorizado em três tipos, diferenciados por suas características clínicas e causas genéticas. No hiperaldosteronismo familiar tipo I, a hipertensão geralmente aparece na infância até o início da idade adulta e pode variar de leve a grave. Esse tipo pode ser tratado com medicamentos esteroides chamados glicocorticoides, por isso também é conhecido como aldosteronismo remediável por glicocorticoides (GRA). No hiperaldosteronismo familiar tipo II, a hipertensão costuma aparecer no início até a meia‑idade adulta e não melhora com tratamento por glicocorticoides. Na maioria dos indivíduos com hiperaldosteronismo familiar tipo III, as glândulas adrenais estão aumentadas até seis vezes o tamanho normal. Essas pessoas afetadas têm hipertensão grave que começa na infância. A hipertensão é difícil de tratar e frequentemente resulta em dano a órgãos como o coração e os rins. Raramente, indivíduos com tipo III apresentam sintomas mais leves, com hipertensão tratável e sem aumento das glândulas adrenais.
Existem outras formas de hiperaldosteronismo que não são familiares. Essas condições são causadas por diversos problemas nas glândulas adrenais ou nos rins. Em alguns casos, não se encontra uma causa para o aumento dos níveis de aldosterona.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoO 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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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.
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.
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.
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).
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.
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.
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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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].
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NefrologiaAdrenal causes of endocrine hypertension in childhood or adolescence.
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American journal of hypertensionA Case of Primary Aldosteronism Masquerading as Bartter and Gitelman Syndromes.
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The Journal of clinical endocrinology and metabolismMonogenic Hypertension Linked to the Renin-Angiotensin-Aldosterone System.
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European journal of endocrinologyFamilial hyperaldosteronism: an European Reference Network on Rare Endocrine Conditions clinical practice guideline.
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Handbook of experimental pharmacologySystematic Review of Therapeutic Agents and Long-Term Outcomes of Familial Hyperaldosteronism Type 1.
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Current opinion in pharmacologyAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Hiperaldosteronismo familiar e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma doença genética rara caracterizada pelo excesso contínuo de aldosterona produzido pelas glândulas adrenais. Esse hormônio desregulado faz com que o organismo retenha sal e perca potássio, levando ao surgimento de hipertensão precoce.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Hiperaldosteronismo familiar. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hiperaldosteronismo-familiar
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Hiperaldosteronismo familiar
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