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a disorder seen in older children and young adults characterized by hypokalemia, hypomagnesemia, hypocalciuria, and sometimes tetany.
Farlex Partner Medical Dictionary © Farlex 2012
Gitelman syndromeA clinically variable autosomal recessive disorder (OMIM:263800) characterised by hypomagnesaemia and hypocalciuria (its key features), hypokalemic alkalosis, and increased renin activity with normal blood pressure. Patients may be asymptomatic or have episodic muscular weakness and tetany, often accompanied by abdominal pain, vomiting and fever. It has overlapping features with Bartter syndrome.
Defects in SLC12A3, which encodes a sodium-chloride co-transporter important for maintaining electrolyte homeostasis, cause Gitelman syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
[Hillel J. Gitelman, U.S. nephrologist]
A rare autosomal recessive renal tubular disorder characterized by hypokalemia, magnesium deficiency, and metabolic alkalosis.
Medical Dictionary, © 2009 Farlex and Partners