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Acute quadriparesis revealing Gitelman syndrome: a case report
Harshika Khaim Chandani1, Aasiya Ather2, Erum Siddiqui1
1Department of Medicine, Jinnah Sindh Medical University, Karachi, Pakistan.
Annals of Medicine and Surgery (2012)
|July 11, 2026
Summary
Gitelman syndrome (GS) can cause acute paralysis, mimicking neurological emergencies. Early diagnosis through biochemical markers like hypokalemia, hypomagnesemia, and hypocalciuria is vital for timely treatment and preventing complications.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Gitelman syndrome (GS) is a rare autosomal recessive renal tubulopathy caused by SLC12A3 gene mutations.
- It is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.
- GS has a potential public health relevance due to its carrier frequency, despite being underdiagnosed.