Conditions / Genetic
Bartter disease type 4a
info · Genetic · ICD-10: E26.8
A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32.
Signs and symptoms
- Polydipsia
- Sensorineural hearing impairment
- Hypokalemia
- Impaired renal concentrating ability
- Polyuria
- Hypochloremia
- Tubulointerstitial fibrosis
- Renal insufficiency
- Hypotonia
- Generalized hypotonia
Also known as: BARTS4A; BSND; Bartter syndrome type 4a; neonatal Bartter syndrome with sensorineural deafness