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BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

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