Fanconi Bickel Syndrome: Novel Mutations inGLUT 2Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families
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منابع مشابه
Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families
Background. Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder caused by defects in facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene mapped on chromosome 3q26.1-26.3, that codes for the glucose transporter protein 2. Methods. Two unrelated Egyptian families having suspected cases of FBS were enrolled after taking a written informed consent; both had positive consanguinity...
متن کاملTwo cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene.
Fanconi-Bickel syndrome (FBS) is a rare inherited disease caused by mutations in the glucose transporter 2 gene, SLC2A2. We reported the first two Chinese cases of FBS. Both cases presented typical clinical features of hepatomegaly, hypophosphatemic rickets, severely stunted growth, fasting hypoglycemia along with postprandial hyperglycemia, and proximal renal tubular dysfunction with dispropor...
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A one year eight month old male child and his nine month old female sibling were presented with Growth retardation, abdominal distension, doll-like faces, hepatomegaly, phosphaturia, proximal renal tubular dysfunction. The elder sibling also presented with glucosuria, hyperglycemia, hypoinsulinemia. The younger one later presented with galactosemia. Biopsy of liver on these two patients reveale...
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متن کاملFanconi Bickel Syndrome: A Rare Entity
Fanconi-Bickel syndrome (FBS) is a rare inherited glycogen storage disease (GSD) caused by defects in facilitative Glucose Transporter (GLUT2) gene that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta cells, enterocytes, and renal tubular cells. The clinical picture is characterized by glycogen accumulation in liver and kidney resulting in hepatomegaly and ...
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ژورنال
عنوان ژورنال: Case Reports in Nephrology
سال: 2011
ISSN: 2090-6641,2090-665X
DOI: 10.1155/2011/754369