Gitelman syndrome

Introduction

variant of Bartter's syndrome with hypomagnesemia & hypocalciuria

Genetics

• autosomal recessive
• mutation in the thiazide-sensitive Na+Cl- cotransporter of the distal tubule (SLC12A3)

Clinical manifestations

• patients generally present in late adolescence or early adulthood
• patients are often asymptomatic
• transient periods of muscular weakness & tetany, usually accompanied by abdominal pain, vomiting & fever
• normal blood pressure
• phenotype is highly heterogeneous in terms of age at onset & severity
• laboratory features might also change during life
• overlapping features with Bartter syndrome

Laboratory

• arterial blood gas, serum K+: hypokalemic metabolic alkalosis
• serum magnesium: hypomagnesemia
• serum Ca+2 may be high normal
• urine Ca+2: hypocalciuria
• urine chloride > 20 meq/L
• plasma renin activity increased
• SLC12A3 gene mutation

More general terms

• genetic syndrome (multisystem disorder)
• genetic disease of the kidney

Additional terms

• Bartter syndrome
• hyperaldosteronism
• solute carrier family 12 member 3; thiazide-sensitive Na+Cl- cotransporter; Na+Cl- symporter (SLC12A3, TSC)

Database

• OMIM: https://mirror.omim.org/entry/263800
• OMIM: https://mirror.omim.org/entry/600968