Chronic Renal Failure in Russell-Silver Syndrome
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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.
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.
참고문헌 (13)
- Silver HK, "Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins", Pediatrics, 12, pp.368~376 (1953)
- 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, 47, pp.1040~1044 (1954)
- Price SM, "The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria", J Med Genet, 36, pp.837~842 (1999)
- Abu-Amero S, "The genetic aetiology of Silver-Russell syndrome", J Med Genet, 45, pp.193~199 (2008)
- Binder G, "The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration", J Clin Endocrinol Metab, 93, pp.1402~1407 (2008)
- Habib R, "Chronic renal failure in children. Causes, rate of deterioration and survival data", Nephron, 11, pp.209~220 (1973)
- Smith JM, "Contributions of the transplant registry: The 2006 annual report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS)", Pediatr Transplant, 11, pp.366~373 (2007)
- Lahiri A, "Hand anomalies in Russell- Silver syndrome", J Plast Reconstr Aesthet Surg, 62, pp.462~465 (2009)
- Haslam RH, "Renal disease in the Russell-Silver syndrome", J Pediatr, 80, pp.1062~1063 (1972)
- Haslam RH, "Renal abnormalities in the Russell-Silver syndrome", Pediatrics, 51, pp.216~222 (1973)
- Arai Y, "Horseshoe kidney in Russell-Silver syndrome", Urology, 31, pp.321~323 (1988)
- Alvarenga R, "Renal tubular acidosis in the Silver-Russell syndrome", Am J Med Genet, 56, pp.173~175 (1995)
- Steele B, "Sonographic appearance of bladder malacoplakia", Pediatr Radiol, 33, pp.253~255 (2003)
