Conditions / Genetic
Bartter disease type 4b
info · Genetic · ICD-10: E26.8
A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes.
Signs and symptoms
- Hypochloremia
- Renal insufficiency
- Hypotonia
- Generalized hypotonia
- Motor delay
- Hypernatriuria
- Failure to thrive
- Increased circulating aldosterone concentration
- Hyperchloriduria
- Intellectual disability
Also known as: BARTS4B; Bartter syndrome, type 4b, digenic; neonatal Bartter syndrome type 4B with sensorineural deafness