Gitelman syndrome

Also known as: Familial hypokalemia–hypomagnesemia

Thiazide-like tubulopathy with hypokalemia, hypomagnesemia and hypocalciuria.

Medical 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

Etiology & mechanism

Loss of the distal sodium chloride cotransporter.

Gene(s) involved (2)

CLCNKBSLC12A3

Symptoms & signs (9)

chondrocalcinosiscrampsfatiguehypokalemiahypomagnesemiamuscle weaknesspalpitationssalt cravingtetany

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.