Hypophosphatemic Rickets: Presenting Features of Fanconi-Bickel Syndrome

被引：4
|
作者：
Roy, Mahua [1 ]
Bose, K. [1 ]
Paul, D. K. [1 ]
Anand, Puja [1 ]
机构：
[1] Dr B C Roy Postgrad Inst Pediat Sci, Dept Pediat Med, Kolkata 700054, W Bengal, India
来源：
CASE REPORTS IN PATHOLOGY | 2011年 / 2011卷
关键词：
D O I：
10.1155/2011/314696
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.
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页数：3
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