Gitelman Syndrome
Gitelman Syndrome Causes
The cause of Gitelman syndrome is genetic ? a mutation in the SLC12A3 gene that disturbs the proper functioning of sodium-chloride co-transporter or NCCT.
Gitelman Syndrome Definition
Gitelman syndrome is a rare autosomal-recessive disease characterized by a defective functioning in the kidneys' distal convoluted tubule. This defect causes prevents magnesium, sodium, potassium and chloride from being absorbed by the bloodstream and is instead is released into the urine. The disease is also a variant of the Bartter's syndrome.
Gitelman Syndrome Diagnosis
A number of medical examinations can diagnose Gitelman syndrome. These are urinalysis, CBC, testing of 24-hour urine potassium, 24-hour urine aldosterone, serial electrolytes, plasma cortisol, plasma rennin, and a chemistry panel. A nephrology and endocrinology consultation is also essential in the diagnosis procedure.
Gitelman Syndrome Symptoms and Signs
The common symptoms of Gitelman syndrome include hypokalemia, hypochloremic metabolic alkalosis, and hypocalciuria. In some cases, hypomagnesemia is also present. In some cases, other symptoms present themselves, including craving for salt, fatigue, general weakness, cramps, polydipsia, nocturia, and dizziness. In its most severe forms, paralysis and tetany also present themselves.
Gitelman Syndrome Treatment
Gitelman syndrome is treatable through medications. These include a liberal intake of dietary sodium, potassium sparing diuretics, and magnesium and potassium supplements.