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

Question 1

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

Accepted Answer

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)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Bartter-Syndrom, Typ 4B

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613090

Question 4

Which enzymes are involved?

Accepted Answer

Chloride channel protein ClC-Ka, Chloride channel protein ClC-Kb

Disease	BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B
OMIM	613090 OMIM = Online Mendelian Inheritance of Men
Orphanet	112
Protein (UniProt)	Chloride channel protein ClC-Ka, Chloride channel protein ClC-Kb
Gene locus	1p36.13
ICD	E26.8
Summary	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