A Case of Cockayne Syndrome with Focal Segmental Glomerulosclerosis
Journal of the Korean Society of Pediatric Nephrology
;
: 100-105, 2007.
Artigo
em Coreano
| WPRIM
| ID: wpr-220792
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Proteinúria
/
Atrofia
/
Biópsia
/
Fibrose
/
Glomerulosclerose Segmentar e Focal
/
Estrabismo
/
Síndrome de Cockayne
/
Creatinina
/
Cárie Dentária
/
Dermatite
Limite:
Criança
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Journal of the Korean Society of Pediatric Nephrology
Ano de publicação:
2007
Tipo de documento:
Artigo
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