title: A case of antenatal Bartter syndrome with sensorineural deafness.
abstract: Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness (BSND), is caused by loss-of-function mutations in the BSND gene, which encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Patients with BS IV have a highly variable clinical phenotype. This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with severe perinatal symptoms followed by a relatively benign course with preserved renal function after early infancy. In addition, the clinical features and the laboratory data of the patient were compared with those of previously reported patients with the same mutation.
authors.affiliation: Department of Pediatrics, College ofMedicine, The Catholic University of Korea.
authors.forename: Hyun Seung
authors.initials: HS
authors.lastname: Lee
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
mesh_terms: D001477:Bartter Syndrome / Q000150:complications / Q000235:genetics*; D018118:Chloride Channels / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
chemical_list: C440005:BSND protein, human; D018118:Chloride Channels