A Case of the Fanconi Syndrome with Nephrocalcinosis

Kim, Young-Mi; Park, Seong-Shik; Lee, Ju-Suk; Kim, Su-Yung

J Korean Soc Pediatr Nephrol > Volume 7(2); 2003 > Article

J Korean Soc Pediatr Nephrol 2003;7(2): 234-238.

Fanconi 증후군에 동반된 신석회화증 1례

김영미, 박성식, 이주석, 김수영

¹부산대학교 의과대학 소아과학교실
²부산대학교 의과대학 소아과학교실
³성균관대학교 의과대학 마산삼성병원 소아과
⁴부산대학교 의과대학 소아과학교실

A Case of the Fanconi Syndrome with Nephrocalcinosis

Young-Mi Kim, Seong-Shik Park, Ju-Suk Lee, Su-Yung Kim

¹Department of Pediatrics, College of Medicine. Pusun National University
²Department of Pediatrics, College of Medicine. Pusun National University
³Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center
⁴Department of Pediatrics, College of Medicine. Pusun National University

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.

Key words: Fanconi syndrome | Hypercalciuria | Nephrocalcinosis