pseudohypoaldosteronism type 2 (Gordon syndrome)

Introduction

Types 2A, 2B & 2C

Pathology

• increased renal salt reabsorption
  • increased intravascular volume
  • hypertension
• decreased renal K+ excretion
  • hyperkalemia
• decreased renal H+ excretion
  • mild metabolic acidosis
• increased Cl- reabsorption in the distal tubule
  • may be primary defect
  • other changes may be compensatory

Genetics

• autosomal dominant
• 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

More general terms

• pseudohypoaldosteronism
• genetic disease of the endocrine system

Additional terms

• 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)

Database

• OMIM: https://mirror.omim.org/entry/145260
• OMIM: https://mirror.omim.org/entry/601844
• OMIM: https://mirror.omim.org/entry/605232