Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis
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 glomeru...
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| Format: | Article |
| Language: | English |
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Korean Pediatric Society
2011-01-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-54-36.pdf |
| _version_ | 1818505511758200832 |
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| author | Se Eun Lee Kyoung Hee Han Yun Hye Jung Hyun Kyung Lee Hee Gyung Kang Kyung Chul Moon Il Soo Ha Yong Choi Hae Il Cheong |
| author_facet | Se Eun Lee Kyoung Hee Han Yun Hye Jung Hyun Kyung Lee Hee Gyung Kang Kyung Chul Moon Il Soo Ha Yong Choi Hae Il Cheong |
| author_sort | Se Eun Lee |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T21:51:47Z |
| format | Article |
| id | doaj.art-5649f744c6394cf78e38bcb6fff5c913 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-10T21:51:47Z |
| publishDate | 2011-01-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-5649f744c6394cf78e38bcb6fff5c9132022-12-22T01:32:11ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582011-01-01541363910.3345/kjp.2011.54.1.362011540107Renal transplantation in a patient with Bartter syndrome and glomerulosclerosisSe Eun Lee0Kyoung Hee Han1Yun Hye Jung2Hyun Kyung Lee3Hee Gyung Kang4Kyung Chul Moon5Il Soo Ha6Yong Choi7Hae Il Cheong8Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pathology, Seoul National University Hospital, Seoul, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.Department of Pediatrics, Inje University Haeundae Paik Hospital, Busan, Korea.Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.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.http://kjp.or.kr/upload/pdf/kjped-54-36.pdfBartter syndromeEnd-stage renal diseaseFocal segmental glomerulosclerosisPerihilar variantKidney transplantation |
| spellingShingle | Se Eun Lee Kyoung Hee Han Yun Hye Jung Hyun Kyung Lee Hee Gyung Kang Kyung Chul Moon Il Soo Ha Yong Choi Hae Il Cheong Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis Korean Journal of Pediatrics Bartter syndrome End-stage renal disease Focal segmental glomerulosclerosis Perihilar variant Kidney transplantation |
| title | Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis |
| title_full | Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis |
| title_fullStr | Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis |
| title_full_unstemmed | Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis |
| title_short | Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis |
| title_sort | renal transplantation in a patient with bartter syndrome and glomerulosclerosis |
| topic | Bartter syndrome End-stage renal disease Focal segmental glomerulosclerosis Perihilar variant Kidney transplantation |
| url | http://kjp.or.kr/upload/pdf/kjped-54-36.pdf |
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