A Case of Antenatal Bartter Syndrome with Sensorineural Deafness

作者：Lee Hyun Seung; Cheong Hae Il; Ki Chang Seok^*

来源：Journal of Pediatric Endocrinology & Metabolism, 2010, 23(10): 1077-1081.

DOI：10.1515/jpem.2010.170

• Bartter syndrome type IV
• Bartter syndrome with sensorineural deafness
• BSND gene
• Barttin
• p G47R mutation

Banter syndrome type IV, also known as Banter 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

• 出版日期2010-10