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Ege Journal of Medicine
2012, Cilt 51, Sayı 2, Sayfa(lar) 121-124
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Fanconi-Bickel syndrome
Ağırman İ G1 Sönmez F1 Semerci N1 Cengiz F2 Çulhacıoğlu N3
1Adnan Menderes Üniversitesi Tıp Fakültesi, Pediatrik Nefroloji Bilim Dalı, Aydın, Türkiye
2Adnan Menderes Üniversitesi Tıp Fakültesi, Pediatri Anabilim Dalı, Aydın, Türkiye
3Adnan Menderes Üniversitesi Tıp Fakültesi, Patoloji Anabilim Dalı, Aydın, Türkiye
Keywords: Fanconi nephropathy, hypophosphatemic rickets, hepatomegaly, glycogen storage disease, growth retardation

Fanconi-Bickel Syndrome or glycogen storage disease type XI is a rare autosomal recessive disorder characterized by the combination of hepatorenal glycogen accumulation and Fanconi-type nephropathy. Mutations in GLUT 2, the gene for the facilitative glucose transporter protein 2 (GLUT 2), cause Fanconi-Bickel Syndrome. GLUT 2 is a facilitative glucose transporter in the liver, pancreas, intestines and kidneys. A 22-month-old male child was administered with severe growth retardation and abdominal distention. Clinical examination revealed a growth retardation, massive hepatomegaly and rickets. He was diagnosed as having Fanconi-Bickel Syndrome with severe hypophosphatemic rickets, proximal renal tubular dysfunction and glycogen accumulation in the hepatocytes. Fanconi-Bickel Syndrome should be considered in the differential diagnosis of Fanconi type nephropathy.

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