Author/Authors
Ağırman, İ G Adnan Menderes Üniversitesi - Tıp Fakültesi - Pediatrik Nefroloji Bilim Dalı, Turkey , Sönmez, F Adnan Menderes Üniversitesi - Tıp Fakültesi - Pediatrik Nefroloji Bilim Dalı, Turkey , Semerci, N Adnan Menderes Üniversitesi - Tıp Fakültesi - Pediatrik Nefroloji Bilim Dalı, Turkey , Cengiz, F Adnan Menderes Üniversitesi - Tıp Fakültesi - Pediatri Anabilim Dalı, Turkey , Çulhacıoğlu, N Adnan Menderes Üniversitesi - Tıp Fakültesi - Patoloji Anabilim Dalı, Turkey
Title Of Article
Fanconi-Bickel syndrome
شماره ركورد
14733
Abstract
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.
From Page
121
NaturalLanguageKeyword
Fanconi nephropathy , hypophosphatemic rickets , hepatomegaly , glycogen storage disease , growth retardation
JournalTitle
Ege Journal Of Medicine
To Page
124
JournalTitle
Ege Journal Of Medicine
Link To Document