국소성 분절성 사구체 경화증(FSGS)을 동반한 Cockayne 증후군 1례
A Case of Cockayne Syndrome with Focal Segmental Glomerulosclerosis
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초록
Cockayne 증후군은 지능저하와 발육부전을 특징으로 하며 피부의 광과민성, 색소성의 망막증, 백내장, 신경전도성 귀머거리 외에 다기관 이상을 동반하는 드문 질환이다. 신장학적 이상 소견 또한 드물지 않게 동반되는 합병증 중 하나이며 병리학적으로 사구체의 유리질화, 세뇨관의 위축 및 간질 내 섬유화가 관찰될 수 있다. 저자들은 7세된 남아에서 Cockayne 증후군의 특징적인 외모와 임상양상을 확인하고 동반된 국소 분절성 사구체 경화증을 진단하였기에 문헌 고찰과 함께 보고하는 바이다.
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.
참고문헌 (19)
- "review of 140 cases", pp.68~84
- "A report of five new cases with biochemical"
- "Dwarfism with retinal atrophy and deafness", pp.1~8
- "A Case of Familial Telangiectasia of Face", pp.459~63
- "an evaluation of hypertension and studies of renal pathology", pp.929~34
- "Cockayne syndrome with recurrent acute tubulointerstitial nephritis", 56, pp.678~682 (2006)
- "Unusual neurophysiological features in Cockayne's syndrome: a report of two cases as a contribution to diagnosis and classification", 26, pp.273~280 (2004)
- "and a review of the premature aging syndromes in paediatrics", pp.49~54
- "MRI in Cockayne syndrome type I", pp.276~7
- "Early onset of Cockayne syndrome", pp.209~10
- "Cockayne's Syndrome: case report of a successful pregnancy", 110, pp.871~872 (2003)
- "Cockayne syndrome and xeroderma pigmentosum", 55, pp.1442~1449 (2000)
- "Heredofamilial disorder of growth and development The Yearbook of Pediatrics 1961- 1962", pp.468~71, Year Book Medical Publishers
- "Renal lesions in Cockayne's syndrome", pp.206~9
- "Nephrotic syndrome, hypertension, and adrenal failure in atypical Cockayne syndrome", 10, pp.602~605 (1996)
- "Alterations in the CSB gene in three Italian patients with a severe form of Cockayne syndrome(CS) but without clinical photosensitivity", 59, pp.935~941 (1999)
- "a case with hyperinsulinemia and growth hormone deficiency", pp.74~7
- "Cockayne syndrome with tetralogy of Fallot a case report", 59, pp.199~203 (1997)
- "Cockayne's syndrome with chromosomal analysis", pp.204~8