transient neonatal diabetes as a presentation of fanconi- bickel syndrome
Authors
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.
similar resources
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...
full textFanconi 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 ...
full textFanconi-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...
full textFanconi-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...
full textHypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome
Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.
full texttransient neonatal diabetes
sarah was a 22 year old woman who passing her first pregnancy. the pregnancy was unplanned and random and she did not know her last menstrual history. he was visited at home by a midwife community health. no important problem was found in his medical history but he was smoking 20 cigarettes daily . it was noteworthy that saeed ,his wife, had transient neonatal diabetes history. although sar...
full textMy Resources
Save resource for easier access later
Journal title:
acta medica iranicaجلد ۵۰، شماره ۱۲، صفحات ۸۳۶-۸۳۸
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023