title: Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome.
abstract: 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 as neonatal diabetes with insulin. At age 14 months, insulin was discontinued. She presented with short stature, hepatomegaly, RTA and hypophosphatemic rickets at age 4 and (FBS) was diagnosed. Diagnosis was confirmed by mutation analysis, showing mutation in SLC2 A2 gene. In conclusion,: neonatal diabetes or diabetic ketoacidosis may be the first presentation of infants with FBS.
authors: Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. setoodeh@tums.ac.ir
authors: Aria
authors: A
authors: Setoodeh
authors: Ali
authors: A
authors: Rabbani
mesh_terms: D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D016883:Diabetic Ketoacidosis / Q000188:drug therapy / Q000209:etiology; D005198:Fanconi Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D051273:Glucose Transporter Type 2 / Q000235:genetics; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007328:Insulin / Q000627:therapeutic use; D009154:Mutation; D010641:Phenotype
chemical_list: D051273:Glucose Transporter Type 2; D007004:Hypoglycemic Agents; D007328:Insulin; C495680:SLC2A2 protein, human