頁籤選單縮合
題名 | Uremia Secondary to Nephronophthisis in a Girl with Ellis-van Creveld Syndrome= |
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作者 | Yen, Ting-fang; Chen, Cheng-hsu; Wen, Mei-chin; Ho, Hao-chung; Fu, Lin-shien; |
期刊 | 臺灣腎臟醫學會雜誌 |
出版日期 | 20120600 |
卷期 | 26:2 2012.06[民101.06] |
頁次 | 頁93-96 |
分類號 | 417.574 |
語文 | eng |
關鍵詞 | Nephronophthisis; Ellis-van Creveld syndrome; Chronic renal failure; Renal transplantation; |
英文摘要 | Ellis-van Creveld (EvC) syndrome, a chondral and ectodermal dysplasia characterized by short ribs, polydactaly, growth retardation, ectodermal and heart disorder, is a rare autosomal recessive disorder. In previous English studies, the association between renal insufficiency and EvC syndrome has not been well described. We herein report a 9-year-old girl with typical EvC syndrome diagnosed since infancy and presented with renal insufficiency during her childhood. The initial presentations were hypertension, heavy proteinuria and impaired renal function. Histopathological findings from biopsy specimen were indicative of nephronophthisis. Progressive renal failure and uremia occurred in months and she received peritoneal dialysis. At 11 years old, she received cadaveric renal transplantation. The post-transplantation course was uneventful with fair renal function and no episode of rejection. The serum creatinine level after renal transplantation for two years is 0.9 mg/dL. In spite of its rarity, we suggested that nephronophthisis with subsequent renal insufficiency may be presented in patients with EvC syndrome. |
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