BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B | |
613090
OMIM = Online Mendelian Inheritance of Men | |
112 | |
Chloride channel protein ClC-Ka, Chloride channel protein ClC-Kb | |
1p36.13 |
|
E26.8 | |
rare Digenic recessive mutation in both the CLCNKA and CLCNKB genes Types of Bartter syndrome: - Type I (OMIM 601678) - Type II (OMIM 241200) - Type III (OMIM 607364), classic Bartter syndrome - Type IVA (OMIM 602522) - Type IVB (OMIM 613090) - Type V (OMIM 300971) | |
Laboratory findings | Aldosterone inc (plasma) Chloride inc (urine) Chloride dec (serum) Potassium dec (serum) Potassium inc (urine) Prostaglandin E2 inc (urine) Renin activity (PRA) or renin inc (plasma) Sodium normal/dec (serum) Sodium normal/inc (urine) |
Symptoms | developmental delay failure to thrive hearing defect, deafness hydrops fetalis hypokalemia hyporeflexia hypotonia mental retardation motor retardation onset, infancy onset, neonatal polyhydramnion (maternal) polyuria prematurity, premature delivery renal failure, acute/chronic |