title: Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis.
abstract: Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism. There have been several case reports of BS complicated by focal segmental glomerulosclerosis (FSGS). Here, we have reported the case of a BS patient who developed FSGS and subsequent end-stage renal disease (ESRD) and provided a brief literature review. The patient presented with classic BS at 3 months of age and developed proteinuria at 7 years. Renal biopsy performed at 11 years of age revealed a FSGS perihilar variant. Hemodialysis was initiated at 11 years of age, and kidney transplantation was performed at 16 years of age. The post-transplantation course has been uneventful for more than 3 years with complete disappearance of BS without the recurrence of FSGS. Genetic study revealed a homozygous p.Trp(TGG)610Stop(TGA) mutation in the CLCNKB gene. In summary, BS may be complicated by secondary FSGS due to the adaptive response to chronic salt-losing nephropathy, and FSGS may progress to ESRD in some patients. Renal transplantation in patients with BS and ESRD results in complete remission of BS.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Se Eun
authors.initials: SE
authors.lastname: Lee
authors.forename: Kyoung Hee
authors.initials: KH
authors.lastname: Han
authors.forename: Yun Hye
authors.initials: YH
authors.lastname: Jung
authors.forename: Hyun Kyung
authors.initials: HK
authors.lastname: Lee
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.forename: Kyung Chul
authors.initials: KC
authors.lastname: Moon
authors.forename: Il Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Yong
authors.initials: Y
authors.lastname: Choi
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong