Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights
نویسندگان
چکیده
منابع مشابه
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome.
Fanconi-Bickel syndrome is a rare inherited disorder of carbohydrate metabolism. The disease is characterized by the association of a massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets and marked growth retardation due to proximal renal tubular dysfunction. Fanconi-Bickel syndrome is a single gene disease and is caused by defects in the facilitative glucose trans...
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 ...
متن کاملFanconi-Bickel Syndrome - Mutation in SLC2A2 Gene
Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. The defect in the GLUT 2 receptors in the hepatocytes, pancreas and renal tubules leads to symptoms secondary to glycogen storage, glucose metabolism and renal tubular dysfunction. Derangement in glucose metabolism is classical with fasting hypoglycemia and post-prandial hyperglycemia. The authors r...
متن کاملFanconi-Bickel syndrome--two cases report.
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...
متن کاملFanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
CONTEXT Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level. OBJECTIVE The objective of the study was to identify the molecular basis of phosphate and calcium abnormalities in two unrelated, consanguineous families. PATIENTS The affected members in family 1 presented with rickets due to profound urinary phosphate-wasting and hypophosphatemic ...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2014
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/gfu018