DISEASE SCANNER
Global Incurable Diseases Tracker
Gitelman Syndrome
A renal tubular disorder caused by SLC12A3 mutations affecting thiazide-sensitive NaCl cotransporter. Characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Milder than Bartter syndrome, often diagnosed in adolescence/adulthood.
50.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Good with treatment. Lifelong potassium and magnesium supplementation required. Growth normal with therapy. Chronic fatigue may persist. Normal lifespan with compliance.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Lifelong potassium and magnesium supplementation. Potassium-sparing diuretics. NSAIDs sometimes used. Generally good prognosis with treatment. Avoidance of precipitating factors (diuretics, laxatives).
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.