Liddle's syndrome
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Epidemiology
- rare
- most frequently presents at a young age[2]
Pathology
- defects in renal tubular transport
- constitutive activation of the renal epithelial Na+ channel
- diminished to negligible aldosterone secretion
- the renal tubules behave as if they have been exposed to aldosterone - this may represent an exaggerated response to normal levels of mineralocorticoid
- decreased renin secretion
Genetics
- autosomal dominant[2]
- mutations in the beta subunit & gamma subunits of the principal cell apical Na+ channel (SCNN1B, SCNN1G)
- family history[2]
Clinical manifestations
- hypertension
- excess sodium retention
- most frequently presents at a young age, not ssociated with sudden onset[2]
Laboratory
- serum K+: hypokalemia
- arterial blood gas, serum bicarbonate:
- urine K+: renal K+ wasting
- plasma renin: decreased
- serum aldosterone: decreased
- 24 hour urinary free cortisol is normal
Differential diagnosis
- apparent mineralocorticoid excess syndrome
- associated with licorice
Management
More general terms
- genetic syndrome (multisystem disorder)
- genetic disease of the urogenital system
- kidney disease; renal disease
Additional terms
References
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1324, 1326
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Medical Knowledge Self Assessment Program (MKSAP) 15, 16 American College of Physicians, Philadelphia 2009, 2012
Medical Knowledge Self Assessment Program (MKSAP) 20 American College of Physicians, Philadelphia 2025 - ↑ Wikipedia: Liddle's syndrome http://en.wikipedia.org/wiki/Liddle's_syndrome
- ↑ Lin SH, Yang SS, Chau T. A practical approach to genetic hypokalemia. Electrolyte Blood Press. 2010 Jun;8(1):38-50 PMID: https://pubmed.ncbi.nlm.nih.gov/21468196