🧬 SyndromeScope
← Back to search
Endocrinology · Endocrinology / Renal tubular disorders

Bartter syndrome

also: Hypokalemic salt-losing tubulopathy

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

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
Alternative names & eponyms
Hypokalemic salt-losing tubulopathy

Etiology & mechanism

Defective thick ascending limb sodium chloride transport.

Gene(s) involved (7)

Symptoms & signs (9)

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

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

Other syndromes that share symptoms with this one.

Drag nodes, scroll to zoom, click a node to open that syndrome.

Loading…
Loading…