A Case of Cockayne Syndrome with Focal Segmental Glomerulosclerosis

Shin, Hye-Kyung; Kim, Gun-Ha; Yim, Hyung-Eun; Hong, Young-Sook; Lee, Joo-Won; Won, Nam-Hee; Yoo, Kee-Hwan

doi:2007.11.1.100

J Korean Soc Pediatr Nephrol > Volume 11(1); 2007 > Article

J Korean Soc Pediatr Nephrol 2007;11(1): 100-105. doi: https://doi.org/10.3339/jkspn.2007.11.1.100

국소성 분절성 사구체 경화증(FSGS)을 동반한 Cockayne 증후군 1례

신혜경, 김건하, 임형은, 홍영숙, 이주원, 원남희, 유기환

¹고려대학교 의과대학 소아과학교실
²고려대학교 의과대학 소아과학교실
³고려대학교 의과대학 소아과학교실
⁴고려대학교 의과대학 소아과학교실
⁵고려대학교 의과대학 소아과학교실
⁶고려대학교 의과대학 병리과학교실
⁷고려대학교 의과대학 소아과학교실

A Case of Cockayne Syndrome with Focal Segmental Glomerulosclerosis

Hye-Kyung Shin, Gun-Ha Kim, Hyung-Eun Yim, Young-Sook Hong, Joo-Won Lee, Nam-Hee Won, Kee-Hwan Yoo

¹Department of Pediatrics, College of Medicine Korea University
²Department of Pediatrics, College of Medicine Korea University
³Department of Pediatrics, College of Medicine Korea University
⁴Department of Pediatrics, College of Medicine Korea University
⁵Department of Pediatrics, College of Medicine Korea University
⁶Department of Pathology, College of Medicine Korea University
⁷Department of Pediatrics, College of Medicine Korea University

ABSTRACT

Cockayne syndrome is a rare autosomal recessive disorder characterized by cachectic dwafism, mental retardation, loss of facial subcutaneous adipose tissue, microcephaly and photosensitive dermatitis. It is associated with renal abnormalities characterized by hyalinization of glomeruli, atrophy of tubules and interstitial fibrosis. To our knowledge, this is the first report of a case of Cockayne syndrome with FSGS in Korea. A 7-year old boy was admitted for evaluation of hypertension and proteinuria, which were detected 2 month ago. He was followed for short stature(<3 percentile), mental retardation(IQ 55), strabismus and dental caries since 3 years ago. He also showed microcephaly, a bird-like face and relatively large hands and feet. Laboratory findings showed decreased creatinine clearance($C_{Cr}$ 76.1 mL/min/$1.73m^2$) and proteinuria(1,548 mg/day). Renal biopsy demonstrated focal segmental glomerulosclerosis of the hilar type with large hyaline deposits, moderate tubular atrophy and interstitial fibrosis. His cardinal features, mental retardation, and renal biopsy findings were consistent with Cockayne syndrome. We report here a very rare case of Cockayne syndrome with FSGS presenting with proteinuria and hypertension.

Key words: Cockayne Syndrome | Focal segmental glomerulosclerosis | Hypertension