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CASE REPORT
Korean J Pediatr 2011 January;54(1) :36-39.
doi:https://doi.org/10.3345/kjp.2011.54.1.36
Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis
Se Eun Lee (Lee SE)1, Kyoung Hee Han (Han KH)1, Yun Hye Jung (Jung YH)1, Hyun Kyung Lee (Lee HK)1, Hee Gyung Kang (Kang HG), Kyung Chul Moon (Moon KC), Il Soo Ha (Ha IS), Yong Choi (Choi Y)5, Hae Il Cheong (Cheong HI)
Department of Pediatrics, Research Center for Rare Diseases, Seoul National University Childrens Hospital, Seoul, Korea
Department of Pathology, Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea
Department of Pediatrics, Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea
Department of Pediatrics, Research Center for Rare Diseases, Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea
1Department of Pediatrics, Seoul National University Childrens Hospital, Seoul, Korea
5Department of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea
Corresponding Author: Hae Il Cheong ,Email: cheonghi@snu.ac.kr
Copyright © 2011 by The Korean Pediatric Society
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.
Keywords: Bartter syndrome | End-stage renal disease | Focal segmental glomerulosclerosis | Perihilar variant | Kidney transplantation
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