İ G. AĞIRMAN, F. SÖNMEZ, N. SEMERCİ, F. Cengiz, N. ÇULHACIOĞLU

Fankoni-Bickel sendromu

Fanconi-Bickel sendromu ya da glikojen depo hastalığı tip XI, nadir görülen otozomal resesif kalıtımla geçen hepatorenal glikojen birikimi ve Fanconi nefropatisi ile karakterize bir sendromdur. Glukoz transporter proteini 2 (GLUT-2) yi kodlayan gendeki mutasyon sonucu oluşur. GLUT-2 karaciğer, pankreas, böbrek ve ince bağırsakta hızlandırılmış glukoz transportunu sağlar. 22 aylık erkek hasta büyüme geriliği ve karında şişlik şikayeti ile başvurdu. Muayenede hepatomegali, gelişme geriliği ve rikets, laboratuvar bulgularında hipofosfatemik rikets ve proksimal renal tübüler disfonksiyon bulguları saptanan hastanın karaciğer biyopsisinde glikojen birikiminin gösterilmesi ile Fanconi-Bickel sendromu tanısı konuldu. Fanconi tip nefropati ayırıcı tanısında Fanconi-Bickel sendromu da düşünülmelidir.

Fanconi-Bickel syndrome

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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