Bartter syndrome

Also known as: Hypokalemic salt-losing tubulopathy

Salt-losing tubulopathy with hypokalemic alkalosis and normal blood pressure.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Renal tubular disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, antenatal to childhood
Gene(s) involved: BSND, CASR, CLCNKA, CLCNKB, KCNJ1, MAGED2, SLC12A1

Etiology & mechanism

Defective thick ascending limb sodium chloride transport.

Gene(s) involved (7)

BSNDCASRCLCNKACLCNKBKCNJ1MAGED2SLC12A1

Symptoms & signs (9)

crampsfailure to thrivehypokalemiametabolic alkalosismuscle weaknessnephrocalcinosispolydipsiapolyhydramniospolyuria

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