Bartter disease type 1

info · Genetic · ICD-10: E26.8

A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.

Signs and symptoms

Increased circulating aldosterone concentration
Dehydration
Premature birth
Polyhydramnios
Hypercalciuria
Small for gestational age
Hypokalemia
Hyperactive renin-angiotensin system
Nephrocalcinosis
Hyposthenuria

Also known as: BARTS1; Bartter syndrome type 1; Bartter syndrome type 1 antenatal; hyperprostaglandin E syndrome 1; hypokalemic alkalosis with hypercalciuria 1 antenatal