Transient Neonatal Diabetes with Fanconi Bickel Syndrome
نویسندگان
چکیده
منابع مشابه
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome.
Fanconi- Bickel Syndrome (FBS) is a rare type of glycogen storage disease (GSD) Characterized by hepatomegaly, proximal renal tubular acidosis (RTA) and marked growth retardation. We report a case of FBS presenting with diabetic ketoacidosis and transient neonatal diabetes. A female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated a...
متن کاملtransient neonatal diabetes as a presentation of fanconi- bickel syndrome
fanconi- bickel syndrome (fbs) is a rare type of glycogen storage disease (gsd) characterized by hepatomegaly, proximal renal tubular acidosis (rta) and marked growth retardation. we report a case of fbs presenting with diabetic ketoacidosis and transient neonatal diabetes. a female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated a...
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: 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...
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ژورنال
عنوان ژورنال: Medicine Science | International Medical Journal
سال: 2017
ISSN: 2147-0634
DOI: 10.5455/medscience.2016.05.8500