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Endocrinology · Endocrinology / Renal tubular disorders

Gitelman syndrome

also: Familial hypokalemia–hypomagnesemia

Thiazide-like tubulopathy with hypokalemia, hypomagnesemia and hypocalciuria.

Specialty
Endocrinology
Subspecialty
Endocrinology / Renal tubular disorders
Sex & age distribution
Male: affected; Female: affected equally; Children: yes, late childhood or adulthood
Gene(s) involved
CLCNKB, SLC12A3
Alternative names & eponyms
Familial hypokalemia–hypomagnesemia

Etiology & mechanism

Loss of the distal sodium chloride cotransporter.

Gene(s) involved (2)

Symptoms & signs (9)

In plain terms, someone with Gitelman syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

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Overlapping symptoms

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