BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A

Question 1

What is  BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A?

Accepted Answer

rare
autosomal recessive
mutation in the BSND gene
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 4A

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 602522

Question 4

Which enzymes are involved?

Accepted Answer

Barttin

Disease	BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A
Synonym	BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS; BSND
OMIM	602522 OMIM = Online Mendelian Inheritance of Men
Orphanet	112
Protein (UniProt)	Barttin
Gene locus	1p32.3
ICD	E26.8
Summary	rare autosomal recessive mutation in the BSND gene 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 dec (serum) Chloride (urine) Potassium (urine) Potassium dec (serum) Prostaglandin E2 inc (urine) Renin activity (PRA) or renin inc (plasma) Sodium dec (serum) Sodium (urine)
Symptoms	developmental delay failure to thrive hearing defect, deafness hydrops fetalis hypokalemia hyporeflexia hypotonia mental retardation metabolic alkalosis motor retardation onset, neonatal polyhydramnion (maternal) polyuria prematurity, premature delivery renal failure, acute/chronic