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Pseudohypoaldosteronism type 1

MedGen UID:
82805
•Concept ID:
C0268436
•
Disease or Syndrome
Synonyms: Pseudohypoaldosteronism Type 1; Pseudohypoaldosteronism Type 1s; Pseudohypoaldosteronism Type I; Pseudohypoaldosteronism Type Is; Pseudohypoaldosteronism, Type I; Pseudohypoaldosteronisms, Type I; Type 1, Pseudohypoaldosteronism; Type I Pseudohypoaldosteronism; Type I, Pseudohypoaldosteronism; Type Is, Pseudohypoaldosteronism
SNOMED CT: Pseudohypoaldosteronism, type 1 (43941006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019161
OMIM® Phenotypic series: PS177735
Orphanet: ORPHA756

Definition

A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPseudohypoaldosteronism type 1

Professional guidelines

PubMed

Successful Management of Systemic Pseudohypoaldosteronism Type 1 in an Infant.
Nanda PM, Sharma R, Jain V
Indian Pediatr 2023 Feb 15;60(1):149-150. PMID: 36786185
Difficulties in the diagnosis and management of eight infants with secondary pseudohypoaldosteronism.
Günay F, Şıklar Z, Berberoğlu M
Turk J Pediatr 2022;64(3):490-499. doi: 10.24953/turkjped.2021.1443. PMID: 35899562
Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, Banerjee I, Padidela R, Ramakrishnan R, Owen C, Cheetham T, Dimitri P
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):959-967. doi: 10.1515/jpem-2018-0538. PMID: 31301676

Recent clinical studies

Etiology

Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.
Adachi M, Tajima T, Muroya K
CEN Case Rep 2020 May;9(2):133-137. Epub 2020 Jan 3 doi: 10.1007/s13730-019-00441-0. PMID: 31900739Free PMC Article
Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, Banerjee I, Padidela R, Ramakrishnan R, Owen C, Cheetham T, Dimitri P
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):959-967. doi: 10.1515/jpem-2018-0538. PMID: 31301676
Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1.
Nam HK, Nam MH, Kim HR, Rhie YJ, Yoo KH, Lee KH
Ann Clin Lab Sci 2017 Jan;47(1):83-87. PMID: 28249922
Pulmonary complications of endocrine and metabolic disorders.
Milla CE, Zirbes J
Paediatr Respir Rev 2012 Mar;13(1):23-8. Epub 2011 Feb 22 doi: 10.1016/j.prrv.2011.01.004. PMID: 22208790
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.
Geller DS, Zhang J, Zennaro MC, Vallo-Boado A, Rodriguez-Soriano J, Furu L, Haws R, Metzger D, Botelho B, Karaviti L, Haqq AM, Corey H, Janssens S, Corvol P, Lifton RP
J Am Soc Nephrol 2006 May;17(5):1429-36. Epub 2006 Apr 12 doi: 10.1681/ASN.2005111188. PMID: 16611713

Diagnosis

One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.
Yakubov R, Ayman A, Kremer AK, van den Akker M
J Med Case Rep 2019 Dec 29;13(1):386. doi: 10.1186/s13256-019-2319-x. PMID: 31883531Free PMC Article
30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.
Zennaro MC, Fernandes-Rosa F
J Endocrinol 2017 Jul;234(1):T93-T106. Epub 2017 Mar 27 doi: 10.1530/JOE-17-0089. PMID: 28348114
Pseudohypoaldosteronism type 1 in an infant.
Mettananda DS, de Silva KS
Ceylon Med J 2011 Jun;56(2):71-2. doi: 10.4038/cmj.v56i2.3114. PMID: 21789870
Implication of ENaC in salt-sensitive hypertension.
Hummler E
J Steroid Biochem Mol Biol 1999 Apr-Jun;69(1-6):385-90. doi: 10.1016/s0960-0760(99)00073-4. PMID: 10419016
Molecular biology of Na+ absorption.
Barbry P, Hofman P
Am J Physiol 1997 Sep;273(3 Pt 1):G571-85. doi: 10.1152/ajpgi.1997.273.3.G571. PMID: 9316461

Therapy

Dietary potassium restriction attenuates urinary sodium wasting in the generalized form of pseudohypoaldosteronism type 1.
Adachi M, Tajima T, Muroya K
CEN Case Rep 2020 May;9(2):133-137. Epub 2020 Jan 3 doi: 10.1007/s13730-019-00441-0. PMID: 31900739Free PMC Article
Pseudohypoaldosteronism type 1: management issues.
Sharma R, Pandey M, Kanwal SK, Zennaro MC
Indian Pediatr 2013 Mar;50(3):331-3. doi: 10.1007/s13312-013-0070-8. PMID: 23680607
Pseudohypoaldosteronism type 1 in an infant.
Mettananda DS, de Silva KS
Ceylon Med J 2011 Jun;56(2):71-2. doi: 10.4038/cmj.v56i2.3114. PMID: 21789870
Critical points in the management of pseudohypoaldosteronism type 1.
Güran T, Değirmenci S, Bulut İK, Say A, Riepe FG, Güran Ö
J Clin Res Pediatr Endocrinol 2011;3(2):98-100. Epub 2011 Jun 8 doi: 10.4274/jcrpe.v3i2.20. PMID: 21750640Free PMC Article
The renal epithelial sodium channel: genetic heterogeneity and implications for the treatment of high blood pressure.
Sagnella GA, Swift PA
Curr Pharm Des 2006;12(18):2221-34. doi: 10.2174/138161206777585157. PMID: 16787251

Prognosis

A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
Efthymiadou A, Gautschi I, van Bemmelen MX, Sertedaki A, Giannakopoulos A, Chrousos G, Schild L, Chrysis D
Am J Physiol Endocrinol Metab 2023 Jul 1;325(1):E1-E9. Epub 2023 May 3 doi: 10.1152/ajpendo.00332.2022. PMID: 37134141
A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1.
Huneif MA, Alhazmy ZH, Shoomi AM, Alghofely MA, Heena H, Mushiba AM, AlSaheel A
J Clin Res Pediatr Endocrinol 2022 Jun 7;14(2):244-250. Epub 2021 Apr 8 doi: 10.4274/jcrpe.galenos.2021.2020.0175. PMID: 33829730Free PMC Article
Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
Gopal-Kothandapani JS, Doshi AB, Smith K, Christian M, Mushtaq T, Banerjee I, Padidela R, Ramakrishnan R, Owen C, Cheetham T, Dimitri P
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):959-967. doi: 10.1515/jpem-2018-0538. PMID: 31301676
Clinical Manifestation and Molecular Analysis of Three Korean Patients with the Renal Form of Pseudohypoaldosteronism Type 1.
Nam HK, Nam MH, Kim HR, Rhie YJ, Yoo KH, Lee KH
Ann Clin Lab Sci 2017 Jan;47(1):83-87. PMID: 28249922
Pseudohypoaldosteronism type 1: management issues.
Sharma R, Pandey M, Kanwal SK, Zennaro MC
Indian Pediatr 2013 Mar;50(3):331-3. doi: 10.1007/s13312-013-0070-8. PMID: 23680607

Clinical prediction guides

The small molecule activator S3969 stimulates the epithelial sodium channel by interacting with a specific binding pocket in the channel's β-subunit.
Sure F, Einsiedel J, Gmeiner P, Duchstein P, Zahn D, Korbmacher C, Ilyaskin AV
J Biol Chem 2024 Apr;300(4):105785. Epub 2024 Feb 23 doi: 10.1016/j.jbc.2024.105785. PMID: 38401845Free PMC Article
Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.
Gao Z, Sun J, Cai C, Gong X, Ma L
Arch Endocrinol Metab 2023 May 12;67(4):e000620. doi: 10.20945/2359-3997000000620. PMID: 37252702Free PMC Article
Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel.
Schaedel C, Marthinsen L, Kristoffersson AC, Kornfält R, Nilsson KO, Orlenius B, Holmberg L
J Pediatr 1999 Dec;135(6):739-45. doi: 10.1016/s0022-3476(99)70094-6. PMID: 10586178
Molecular biology of Na+ absorption.
Barbry P, Hofman P
Am J Physiol 1997 Sep;273(3 Pt 1):G571-85. doi: 10.1152/ajpgi.1997.273.3.G571. PMID: 9316461
Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping.
Strautnieks SS, Thompson RJ, Hanukoglu A, Dillon MJ, Hanukoglu I, Kuhnle U, Seckl J, Gardiner RM, Chung E
Hum Mol Genet 1996 Feb;5(2):293-9. doi: 10.1093/hmg/5.2.293. PMID: 8824886

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