A Case of Cockayne Syndrome with Focal Segmental Glomerulosclerosis.
- Author:
Hye Kyung SHIN
1
;
Gun Ha KIM
;
Hyung Eun YIM
;
Kee Hwan YOO
;
Young Sook HONG
;
Joo Won LEE
;
Nam Hee WON
Author Information
1. Department of Pediatrics, College of Medicine Korea University, Seoul, Korea. guroped@korea.ac.kr
- Publication Type:Case Report
- Keywords:
Cockayne Syndrome;
Focal segmental glomerulosclerosis;
Hypertension
- MeSH:
Atrophy;
Biopsy;
Child;
Cockayne Syndrome*;
Creatinine;
Dental Caries;
Dermatitis;
Dwarfism;
Fibrosis;
Foot;
Glomerulosclerosis, Focal Segmental*;
Hand;
Humans;
Hyalin;
Hypertension;
Intellectual Disability;
Korea;
Male;
Microcephaly;
Proteinuria;
Strabismus;
Subcutaneous Fat
- From:Journal of the Korean Society of Pediatric Nephrology
2007;11(1):100-105
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Cockayne syndrome is a rare autosomal recessive disorder characterized by cachectic dwarfism, 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(CCr 76.1 mL/min/1.73m2) 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.
