Bartter disease type 2

info · Genetic · ICD-10: E26.8

A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.

Signs and symptoms

Hypercalciuria
Increased circulating renin concentration
Hypokalemia
Increased circulating aldosterone concentration
Hypokalemic metabolic alkalosis
Nephrocalcinosis
Hyposthenuria
Hypochloremia
Short stature
Seizure

Also known as: BARTS2; Bartter syndrome type 2; Bartter syndrome type 2 antenatal; hyperprostaglandin E syndrome 2; hypokalemic alkalosis with hypercalciuria 2 antenatal