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pseudohypoaldosteronism type 2 (Gordon syndrome)
Types 2A, 2B & 2C
Pathology:
1) increased renal salt reabsorption
a) increased intravascular volume
b) hypertension
2) decreased renal K+ excretion
-> hyperkalemia
3) decreased renal H+ excretion
-> mild metabolic acidosis
4) increased Cl- reabsorption in the distal tubule
a) may be primary defect
b) other changes may be compensatory
Genetics:
1) autosomal dominant
2) defect in WNK1 gene or WNK4 gene
Clinical manifestations:
-> hypertension
Laboratory:
- serum K+: hyperkalemia
- serum choride, serum bicarbonate:
- hyyperchloremic metabolic acidosis
- plasma renin: low
- plasma aldosterone: low
Management:
- thiazide diuretics
Related
serine/threonine protein kinase WNK1; erythrocyte 65 kD protein; p65; kinase deficient protein; protein kinase lysine-deficient 1; protein kinase with no lysine 1; hWNK1 (WNK1, HSN2, KDP, KIAA0344, PRKWNK1)
serine/threonine protein kinase WNK4;; protein kinase lysine-deficient 4; protein kinase with no lysine 4 (WNK4, PRKWNK4)
General
genetic disease of the endocrine system
pseudohypoaldosteronism
Database Correlations
OMIM correlations
MORBIDMAP 605232
References
- Journal Watch 21(18):144, 2001
Wilson et al Science 293:1107, 2001
Marx J. Science 293:1030, 2001
- Medical Knowledge Self Assessment Program (MKSAP) 15,
American College of Physicians, Philadelphia 2009