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Pseudohypoaldosteronism, type 2

MedGen UID:
259599
•Concept ID:
C1449844
•
Disease or Syndrome
Synonym: Pseudohypoaldosteronism, Type II
SNOMED CT: Pseudohypoaldosteronism, type 2 (15689008); Gordon hyperkalemia-hypertension syndrome (703254001); Gordon hyperkalaemia-hypertension syndrome (703254001)
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)
 
Genes (locations): CUL3 (2q36.2); KLHL3 (5q31.2); WNK1 (12p13.33); WNK4 (17q21.2)
 
Monarch Initiative: MONDO:0019162
OMIM®: 145260
OMIM® Phenotypic series: PS145260
Orphanet: ORPHA757

Disease characteristics

Excerpted from the GeneReview: Pseudohypoaldosteronism Type II
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
David H Ellison   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPseudohypoaldosteronism, type 2
Follow this link to review classifications for Pseudohypoaldosteronism, type 2 in Orphanet.

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
Prevalence, diagnosis, and management of secondary pseudohypoaldosteronism.
Memoli E, Lava SAG, Bianchetti MG, Vianello F, Agostoni C, Milani GP
Pediatr Nephrol 2020 Apr;35(4):713-714. Epub 2019 Dec 20 doi: 10.1007/s00467-019-04419-z. PMID: 31863208

Recent clinical studies

Etiology

Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500
11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension.
Melcescu E, Phillips J, Moll G, Subauste JS, Koch CA
Horm Metab Res 2012 Nov;44(12):867-78. Epub 2012 Aug 29 doi: 10.1055/s-0032-1321851. PMID: 22932914
WNK kinases and the control of blood pressure.
Cope G, Golbang A, O'Shaughnessy KM
Pharmacol Ther 2005 May;106(2):221-31. Epub 2005 Jan 26 doi: 10.1016/j.pharmthera.2004.11.010. PMID: 15866321

Diagnosis

Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers.
Yavas Abali Z, Yesil G, Kirkgoz T, Cicek N, Alpay H, Turan S, Bereket A, Guran T
Pediatr Nephrol 2020 Mar;35(3):405-407. Epub 2019 Sep 16 doi: 10.1007/s00467-019-04352-1. PMID: 31529157
Diagnostic approach to low-renin hypertension.
Monticone S, Losano I, Tetti M, Buffolo F, Veglio F, Mulatero P
Clin Endocrinol (Oxf) 2018 Oct;89(4):385-396. Epub 2018 Jun 6 doi: 10.1111/cen.13741. PMID: 29758100
Potassium modulates electrolyte balance and blood pressure through effects on distal cell voltage and chloride.
Terker AS, Zhang C, McCormick JA, Lazelle RA, Zhang C, Meermeier NP, Siler DA, Park HJ, Fu Y, Cohen DM, Weinstein AM, Wang WH, Yang CL, Ellison DH
Cell Metab 2015 Jan 6;21(1):39-50. doi: 10.1016/j.cmet.2014.12.006. PMID: 25565204Free PMC Article
Gordon Syndrome: a continuing story.
O'Shaughnessy KM
Pediatr Nephrol 2015 Nov;30(11):1903-8. Epub 2014 Dec 11 doi: 10.1007/s00467-014-2956-7. PMID: 25503323
11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension.
Melcescu E, Phillips J, Moll G, Subauste JS, Koch CA
Horm Metab Res 2012 Nov;44(12):867-78. Epub 2012 Aug 29 doi: 10.1055/s-0032-1321851. PMID: 22932914

Therapy

Hyperkalaemic acidosis: blood pressure is the diagnostic clue.
Zieg J, Thomasová D, Libik M, Sumnik Z, Bockenhauer D
Pediatr Nephrol 2025 Apr;40(4):967-970. Epub 2024 Nov 11 doi: 10.1007/s00467-024-06590-4. PMID: 39527282Free PMC Article
Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers.
Yavas Abali Z, Yesil G, Kirkgoz T, Cicek N, Alpay H, Turan S, Bereket A, Guran T
Pediatr Nephrol 2020 Mar;35(3):405-407. Epub 2019 Sep 16 doi: 10.1007/s00467-019-04352-1. PMID: 31529157
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations.
Bergaya S, Vidal-Petiot E, Jeunemaitre X, Hadchouel J
Curr Opin Nephrol Hypertens 2012 Jan;21(1):39-45. doi: 10.1097/MNH.0b013e32834d2fde. PMID: 22080857

Prognosis

Monogenic forms of low-renin hypertension: clinical and molecular insights.
Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500

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