DOI QR코드

DOI QR Code

Chronic Renal Failure in Russell-Silver Syndrome

Russell-Silver 증후군에서의 만성 신부전

  • Ahn, Yo-Han (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Lee, Se-Eun (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Kang, Hee-Gyung (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Ha, Il-Soo (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Cheong, Hae-Il (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Choi, Yong (Department of Pediatrics, Seoul National University College of Medicine)
  • 안요한 (서울대학교 의과대학 소아과학교실) ;
  • 이세은 (서울대학교 의과대학 소아과학교실) ;
  • 강희경 (서울대학교 의과대학 소아과학교실) ;
  • 하일수 (서울대학교 의과대학 소아과학교실) ;
  • 정해일 (서울대학교 의과대학 소아과학교실) ;
  • 최용 (서울대학교 의과대학 소아과학교실)
  • Published : 2009.10.31

Abstract

The Russell-Silver syndrome (RSS) is a disease characterized by intrauterine growth retardation with preserved head circumference, facial dysmorphism and short stature. Reported renal and urinary manifestations of RSS include horseshoe kidney, renal tubular acidosis, hydronephrosis, ureteropelvic obstruction and vesicoureteral reflux. Here we report a case of end-stage renal disease associated with RSS, which, to the best of our knowledge, has not been reported yet.

Russell-Silver 증후군은 자궁내 성장 지연, 특징적인 얼굴 기형, 저신장을 특징으로 하는 질환이다. Russell-Silver 증후군에서 동반되는 신질환은 말굽 신장, 신세뇨관 산증, 물콩팥증, 요관 깔때기막힘, 방광 요관 역류 등이 있다. 저자들은 Russell-Silver 증후군 환자에서 말기 신부전이 발생한 예를 경험하였으며 문헌 고찰에서 유사한 증례를 찾을 수 없었기에 보고하는 바이다.

Keywords

References

  1. Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953;12:368-76.
  2. Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 1954;47:1040-4.
  3. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999;36:837-42.
  4. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet 2008;45:193-9. https://doi.org/10.1136/jmg.2007.053017
  5. Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA et al. The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration. J Clin Endocrinol Metab 2008;93:1402-7. https://doi.org/10.1210/jc.2007-1897
  6. Habib R, Broyer M, Benmaiz H Chronic renal failure in children, Causes, rate of deterioration and survival data, Nephron 1973;11:209-20. https://doi.org/10.1159/000180231
  7. Smith JM, Stablein DM, Munoz R, Hebert D, McDonald RA. Contributions of the transplant registry: The 2006 annual report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS). Pediatr Transplant 2007;11:366-73. https://doi.org/10.1111/j.1399-3046.2007.00704.x
  8. Lahiri A, Lester R. Hand anomalies in Russell-Silver syndrome. J Plast Reconstr Aesthet Surg 2009;62:462-5. https://doi.org/10.1016/j.bjps.2007.11.036
  9. Haslam RH, Berman W, Derivan AT, Smith DW, Gareis FJ, Summitt RL. Renal disease in the Russell-Silver syndrome. J Pediatr 1972;80:1062-3.
  10. Haslam RH, Berman W, Heller RM. Renal abnormalities in the Russell-Silver syndrome, Pediatrics 1973;51:216-22.
  11. Arai Y, Wakabayashi Y, Pak K, Tomoyoshi T. Horseshoe kidney in Russell-Silver syndrome. Urology 1988;31:321-3. https://doi.org/10.1016/0090-4295(88)90090-8
  12. Alvarenga R, Gonzalez del Angel A, del Castillo V, Garcia de la Puente S, Maulen I, Carnevale A. Renal tubular acidosis in the Silver-Russell syndrome. Am J Med Genet 1995;56:173-5. https://doi.org/10.1002/ajmg.1320560212
  13. Steele B, Vade A, Lim-Dunham J. Sonographic appearance of bladder malacoplakia. Pediatr Radiol 2003;33:253-5.