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Liddle's syndrome (pseudohyperaldosteronism)

Epidemiology: - rare Pathology: 1) defects in renal tubular transport 2) constitutive activation of the renal epithelial Na+ channel 3) diminished to negligible aldosterone secretion 4) the renal tubules behave as if they have been exposed to aldosterone - this may represent an exaggerated response to normal levels of mineralocorticoid 5) decreased renin secretion Genetics: 1) autosomal dominant [2] 2) mutations in the beta subunit & gamma subunits of the principal cell apical Na+ channel (SCNN1B, SCNN1G) Clinical manifestations: - hypertension - excess sodium retention Laboratory: 1) serum K+: hypokalemia 2) arterial blood gas, serum bicarbonate: - metabolic alkalosis [2] 3) urine K+: renal K+ wasting 4) plasma renin: decreased 5) serum aldosterone: decreased 6) 24 hour urinary free cortisol is normal Management: 1) Na+ restriction 2) amiloride 3) triamterene 100 mg/day 4) spironolactone

Related

hyperaldosteronism

General

genetic syndrome (multisystem disorder) genetic disease of the urogenital system kidney disease; renal disease

Database Correlations

OMIM 177200

References

  1. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1324, 1326
  2. Medical Knowledge Self Assessment Program (MKSAP) 15, 16 American College of Physicians, Philadelphia 2009, 2012
  3. Wikipedia: Liddle's syndrome http://en.wikipedia.org/wiki/Liddle's_syndrome
  4. Lin SH, Yang SS, Chau T. A practical approach to genetic hypokalemia. Electrolyte Blood Press. 2010 Jun;8(1):38-50 PMID: 21468196