Childhood Kidney Diseases

  • 제18권2호
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  • Pages.132-136
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  • 2014
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  • 2384-0242(pISSN)
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  • 2384-0250(eISSN)
대한소아신장학회 (Korean Society of Pediatric Nephrology)
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소아 결절성 경화증에서 나타나는 다양한 신증상들

Various Renal Manifestations in Children with Tuberous Sclerosis Complex

  • 임자현 (아주대학교 의과대학 소아청소년과) ;
  • 박문성 (아주대학교 의과대학 소아청소년과) ;
  • 배기수 (아주대학교 의과대학 소아청소년과) ;
  • 김성환 (아주대학교 의과대학 소아청소년과) ;
  • 신재일 (연세대학교 의과대학 소아청소년과) ;
  • 박세진 (아주대학교 의과대학 대우병원 소아청소년과)
  • Lim, Ja Hyun (Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital) ;
  • Park, Moon Sung (Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital) ;
  • Pai, Ki Soo (Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital) ;
  • Kim, Sung Hwan (Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital) ;
  • Shin, Jae Il (Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital) ;
  • Park, Se Jin (Department of Pediatrics, Ajou University School of Medicine, Daewoo General Hospital)
  • 투고 : 2014.09.25
  • 심사 : 2014.10.20
  • 발행 : 2014.10.31
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초록

결절성 경화증은 과오종의 발생을 특징으로 하는 유전질환으로, 피부, 뇌, 심장, 눈, 폐, 구강, 신장 등의 다양한 장기들을 침범한다. 신장에서 관찰 가능한 다양한 병변들은 발생 빈도와 사망률이 높기 때문에 주의를 필요로 하며, 신장 증상의 이른 발생 시기를 고려하여 소아 연령에서부터 적절한 진단과 관리가 중요하다. 저자들은 소아 연령에서 발생한 거대 혈관근육지방종, 신세포암, 신경색, 신낭종, 그리고 신결석증 등이 동반된 결절성 경화증 4례를 경험하였기에 보고하는 바이다.

Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organ systems and causes tumors. It is important that physicians are aware of the manifestations of TSC, and that they follow the recommendations for screening and evaluation. Several types of renal abnormalities may develop in individuals with TSC. Individuals with TSC may require ongoing treatment that can be adapted for each arising manifestation of renal disease. Herein, we report 4 patients with TSC who presented with a range of different renal manifestations, including angiomyolipoma, renal cell carcinoma, renal infarction, renal cyst, and nephrolithiasis.

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참고문헌

  1. Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2 , compared with TSC1, disease in muliple organs. Am J Hum genet 2001;68:64-80. https://doi.org/10.1086/316951
  2. Leung AK, Robson WL. Tuberous sclerosis complex: a review. J Pediatr Health Care 2007;21:108-14. https://doi.org/10.1016/j.pedhc.2006.05.004
  3. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med 2006;355:1345-56. https://doi.org/10.1056/NEJMra055323
  4. Jeong IC, Kim JT, Hwang YS, Kim JA, Lee JS. Renal manifestations in tuberous sclerosis complex. Korean J Pediatr 2007;50:178-81. https://doi.org/10.3345/kjp.2007.50.2.178
  5. Pode D, Meretik S, Shapiro A, Caine M. Diagnosis and management of renal angiomyolipoma. Urology 1985;25:461-7. https://doi.org/10.1016/0090-4295(85)90451-0
  6. Koo KC, Kim WT, Ham WS, Lee JS, Ju HJ, Choi YD. Trends of presentation and clinical outcome of treated renal aniomyolipoma. Yonsei Med J 2010;51:728-34. https://doi.org/10.3349/ymj.2010.51.5.728
  7. Planche O, Correas JM, Joly D, Mejean A, Helenon O. Prophylactic embolization of renal angiomyolipomas: evaluation of therapeutic response using CT 3D volume calculation and density histograms. J Vasc Interv Radiol 2011;22:1388-95. https://doi.org/10.1016/j.jvir.2011.05.016
  8. Al-Saleem T, Wessner LL, Scheithauer BW, Patterson K, Roach ES, Dreyer SJ, et al. Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex. Cancer 1998;83:2208-16. https://doi.org/10.1002/(SICI)1097-0142(19981115)83:10<2208::AID-CNCR21>3.0.CO;2-K
  9. Siroky BJ, Yin H, Bissler JJ. Clinical and molecular insights into tuberous sclerosis complex renal disease. Pediatr Nephrol 2011;26:839-52. https://doi.org/10.1007/s00467-010-1689-5
  10. Cook JA, Oliver K, Mueller RF, Sampson J. A cross sectional study of renal involvement in tuberous sclerosis. J Med Genet 1996;33:480-4. https://doi.org/10.1136/jmg.33.6.480
  11. Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics 2010;41:199-208. https://doi.org/10.1055/s-0030-1269906
  12. Garcia NV, Negrete PF, Lopez GM, Luis YM. Are simple renal cysts in childbood associated with kidney stones? Nephrourol Mon 2012;4:596-8. https://doi.org/10.5812/numonthly.2682
  13. Dixon BP, Hulbert JC, Bissler JJ. Tuberous sclerosis complex renal disease. Nephron Exp Nephrol 2011;118:15-20. https://doi.org/10.1159/000320891