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Early-onset familial hypoaldosteronism

MedGen UID:
1842560
•Concept ID:
C5680171
•
Disease or Syndrome
Synonyms: Early-onset familial hyperreninemic hypoaldosteronism; early-onset familial hypoaldosteronism; Severe aldosterone synthase deficiency
 
Monarch Initiative: MONDO:0035320
Orphanet: ORPHA556030

Definition

A rare type of familial hypoaldosteronism characterized by early infantile onset of vomiting, diarrhea, severe dehydration, and failure to thrive. Analysis of plasma electrolytes shows hyponatremia, hyperkalemia, and acidosis. Plasma renin activity is elevated, and aldosterone levels are low. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Early-onset familial hypoaldosteronism

Professional guidelines

PubMed

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.
Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, Corvol P, Barbry P
J Hypertens 1997 Oct;15(10):1091-100. doi: 10.1097/00004872-199715100-00007. PMID: 9350583

Recent clinical studies

Diagnosis

Liddle's-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report.
Yamaguchi E, Yoshikawa K, Nakaya I, Kato K, Miyasato Y, Nakagawa T, Kakizoe Y, Mukoyama M, Soma J
BMC Nephrol 2018 May 23;19(1):122. doi: 10.1186/s12882-018-0916-3. PMID: 29792170Free PMC Article
Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.
Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, Corvol P, Barbry P
J Hypertens 1997 Oct;15(10):1091-100. doi: 10.1097/00004872-199715100-00007. PMID: 9350583

Therapy

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.
Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, Corvol P, Barbry P
J Hypertens 1997 Oct;15(10):1091-100. doi: 10.1097/00004872-199715100-00007. PMID: 9350583

Clinical prediction guides

Liddle's-like syndrome associated with nephrotic syndrome secondary to membranous nephropathy: the first case report.
Yamaguchi E, Yoshikawa K, Nakaya I, Kato K, Miyasato Y, Nakagawa T, Kakizoe Y, Mukoyama M, Soma J
BMC Nephrol 2018 May 23;19(1):122. doi: 10.1186/s12882-018-0916-3. PMID: 29792170Free PMC Article
Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.
Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, Corvol P, Barbry P
J Hypertens 1997 Oct;15(10):1091-100. doi: 10.1097/00004872-199715100-00007. PMID: 9350583

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