Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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A Case of the Fanconi Syndrome with Nephrocalcinosis

Fanconi 증후군에 동반된 신석회화증 1례

  • Kim Young-Mi (Department of Pediatrics, College of Medicine. Pusun National University) ;
  • Park Seong-Shik (Department of Pediatrics, College of Medicine. Pusun National University) ;
  • Lee Ju-Suk (Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center) ;
  • Kim Su-Yung (Department of Pediatrics, College of Medicine. Pusun National University)
  • 김영미 (부산대학교 의과대학 소아과학교실) ;
  • 박성식 (부산대학교 의과대학 소아과학교실) ;
  • 이주석 (성균관대학교 의과대학 마산삼성병원 소아과) ;
  • 김수영 (부산대학교 의과대학 소아과학교실)
  • Published : 2003.11.01
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Abstract

Fanconi syndrome is a generalized functional disorder of the proximal tubule of the kidney and is characterized by aminoaciduria, glycosuria, hyperphosphaturia, dehydration, rickets, and growth failure. Nephrocalcinosis and hypercalciuria are rare manifestations of Fanconi syndrome. There is no case report of Fanconi syndrome complicated with nephrocalcinosis and hypercalciuria in Korea. A 6-year-old boy presented with genu valgum and waddling gaits for about 3 years. There was no family history of renal disease and his physical examination was normal except for genu valgum and corrected cleft lip and palate. Laboratory investigations showed generalized aminoaciduria, glycosuria, hyperphosphaturia, hypercalciuria, and low-molecular weight proteinuria including ${\beta}$-microglobulin. Serum 25-OH vitamin $D_3$ was within the normal range, and $1,25-(OH)_2$ vitamin $D_3$ was elevated. Bilateral renal medullary hyperechogenicity was demonstrated by ultrasonography. Analysis of the CLCN5 gene revealed no mutation. Here we describe a boy with Fanconi syndrome complicated with nophrocalcinosis and discuss the differential diagnosis.

저자들은 3년 전부터 외반슬과 동요성 보행을 보인 6세 남아에서 특발성 Fanconi 증후군에 동반된 신석회화증의 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

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