Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome | Zendy

Mahua Roy | Zendy; K. Bose | Zendy; D. K. Paul | Zendy; Puja Anand | Zendy

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Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

Author(s) -

Mahua Roy,

K. Bose,

D. K. Paul,

Puja Anand

Publication year - 2011

Publication title -

case reports in pathology

Language(s) - English

Resource type - Journals

eISSN - 2090-6781

pISSN - 2090-679X

DOI - 10.1155/2011/314696

Subject(s) - hypophosphatemic rickets , rickets , medicine , fanconi syndrome , glycogen storage disease , hypophosphatemia , growth retardation , endocrinology , disease , kidney , vitamin d and neurology , biology , genetics , pregnancy

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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