Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
권호 표지
DOI QR코드

DOI QR Code

Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis

  • Lee, Se-Eun (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Han, Kyoung-Hee (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Jung, Yun-Hye (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Lee, Hyun-Kyung (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kang, Hee-Gyung (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Moon, Kyung-Chul (Department of Pathology, Seoul National University Hospital) ;
  • Ha, Il-Soo (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Choi, Yong (Department of Pediatrics, Inje University Haeundae Paik Hospital) ;
  • Cheong, Hae-Il (Department of Pediatrics, Seoul National University Children's Hospital)
  • 투고 : 2010.08.02
  • 심사 : 2010.10.09
  • 발행 : 2011.01.15
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tubular 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.

키워드

참고문헌

  1. Bartter FC, Pronove P, Gill JR Jr, Maccardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962;33:811-828. https://doi.org/10.1016/0002-9343(62)90214-0
  2. Seyberth HW. An improved terminology and classification of Bartter-like syndromes. Nat Clin Pract Nephrol 2008;4:560-567.
  3. Akil I, Ozen S, Kandiloglu AR, Ersoy B. A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis. Clin Exp Nephrol 2010;14:278-282 https://doi.org/10.1007/s10157-009-0262-7
  4. Yamazaki H, Nozu K, Narita I, Nagata M, Nozu Y, Fu XJ, et al. Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. Pediatr Nephrol 2009;24:415-418. https://doi.org/10.1007/s00467-008-0999-3
  5. Su IH, Frank R, Gauthier BG, Valderrama E, Simon DB, Lifton RP, et al. Bartter syndrome and focal segmental glomerulosclerosis: a possible link between two diseases. Pediatr Nephrol 2000;14:970-972. https://doi.org/10.1007/s004670050054
  6. Blethen SL, Van Wyk JJ, Lorentz WB, Jennette JC. Reversal of Bartter's syndrome by renal transplantation in a child with focal, segmental glomerular sclerosis. Am J Med Sci 1985;289:31-36. https://doi.org/10.1097/00000441-198501000-00006
  7. Bettinelli A, Borsa N, Syren ML, Mattiello C, Coviello D, Edefonti A, et al. Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome. Pediatr Res 2005;58:1269-1273. https://doi.org/10.1203/01.pdr.0000185267.95466.41
  8. Fogo AB. Progression and potential regression of glomerulosclerosis. Kidney Int 2001;59:804-819. https://doi.org/10.1046/j.1523-1755.2001.059002804.x
  9. Schachter AD, Arbus GS, Alexander RJ, Balfe JW. Non-steroidal antiinflammatory drug-associated nephrotoxicity in Bartter syndrome. Pediatr Nephrol 1998;12:775-777. https://doi.org/10.1007/s004670050545
  10. Vaisbich MH, Fujimura MD, Koch VH. Bartter syndrome: benefits and side effects of long-term treatment. Pediatr Nephrol 2004;19:858-863.
  11. Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001;29:310-314. https://doi.org/10.1038/ng752
  12. Yokoyama T. Endocrinological analysis before and after living-related renal transplantation in a patient of Bartter's syndrome. Nippon Jinzo Gakkai Shi 1995;37:580-586.
  13. Takahashi M, Yanagida N, Okano M, Ishizaki A, Meguro J, Kukita K, et al. A first report: living related kidney transplantation on a patient with Bartter's syndrome. Transplant Proc 1996;28:1588.
  14. Kim JY, Kim GA, Song JH, Lee SW, Han JY, Lee JS, et al. A case of living-related kidney transplantation in Bartter's syndrome. Yonsei Med J 2000;41:662-665. https://doi.org/10.3349/ymj.2000.41.5.662
  15. Chaudhuri A, Salvatierra O Jr, Alexander SR, Sarwal MM. Option of preemptive nephrectomy and renal transplantation for Bartter's syndrome. Pediatr Transplant 2006;10:266-270. https://doi.org/10.1111/j.1399-3046.2005.00435.x
  16. D'Agati VD, Fogo AB, Bruijn JA, Jennette JC. Pathologic classification of focal segmental glomerulosclerosis: a working proposal. Am J Kidney Dis 2004;43:368-382. https://doi.org/10.1053/j.ajkd.2003.10.024
  17. Bulucu F, Vural A, Yenicesu M, Caglar K. Association of Gitelman's syndrome and focal glomerulosclerosis. Nephron 1998;79:244. https://doi.org/10.1159/000045043
  18. Hanevold C, Mian A, Dalton R. C1q nephropathy in association with Gitelman syndrome: a case report. Pediatr Nephrol 2006;21:1904-1908. https://doi.org/10.1007/s00467-006-0261-9

피인용 문헌

  1. An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria vol.50, pp.2, 2011, https://doi.org/10.4132/jptm.2015.08.31
  2. Pathophysiology of antenatal Bartter’s syndrome vol.26, pp.5, 2011, https://doi.org/10.1097/mnh.0000000000000346
  3. Clinical and Genetic Spectrum of Bartter Syndrome Type 3 vol.28, pp.8, 2011, https://doi.org/10.1681/asn.2016101057
  4. Bartter syndrome: causes, diagnosis, and treatment vol.11, pp.None, 2011, https://doi.org/10.2147/ijnrd.s155397
  5. Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy vol.62, pp.4, 2011, https://doi.org/10.1111/ped.14089
  6. Two novel mutations in theCLCNKBgene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy vol.13, pp.7, 2011, https://doi.org/10.1136/bcr-2019-233872
  7. Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach vol.17, pp.1, 2011, https://doi.org/10.1007/s12519-020-00370-4
  8. Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders vol.99, pp.2, 2021, https://doi.org/10.1016/j.kint.2020.10.035