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.
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.
Treatment:
Gitelman syndrome is treatable through medications. These include a liberal intake of dietary sodium, potassium sparing diuretics, and magnesium and potassium supplements.
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.
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.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
