Highlighter is on. Drag to highlight text. Click a highlight to remove it.
ALL / Endocrinology
Gitelman's syndrome
Gitelman's syndrome
Gitelman's syndrome is due to a defect in the thiazide-sensitive Na+ Cl- transporter in the distal convoluted tubule.Features
- normotension
- hypokalaemia
- hypocalciuria
- hypomagnesaemia
- metabolic alkalosis
Diagnosis
- genetic testing for mutations in the SLC12A3 gene
Management
- oral potassium and magnesium supplementation
- potassium-sparing diuretics may be used if still hypokalaemic/symptomatic
+PassMedicine Notes
Gitelman's syndrome is due to a defect in the thiazide-sensitive Na+ Cl- transporter in the distal convoluted tubule.
Features- normotension
- hypokalaemia
- hypocalciuria
- hypomagnesaemia
- metabolic alkalosis
- genetic testing for mutations in the SLC12A3 gene
- oral potassium and magnesium supplementation
- potassium-sparing diuretics may be used if still hypokalaemic/symptomatic