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.

引用

页数：3

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