A rare case of Glycogen storage disease type XI Fanconi-Bickel Syndrome
Journal Title: Journal Of Pediatric Critical Care - Year 2016, Vol 3, Issue 3
Abstract
Fanconi-Bickel syndrome (FBS) is an example of proximal Renal tubular dysfunction due to a single gene disorder, it is caused by defects in the facilitative glucose transporter 2 gene that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic β-cells, enterocytes and renal tubular cells. It is a rare inherited disorder of carbohydrate metabolism manifested by failure to thrive, hepatomegaly, severe hypophosphatemic rickets and proximal renal tubular dysfunction. We present case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease type XI whose incidence is unknown but less than 200 cases have been reported since 1949.
Authors and Affiliations
Manisha Garg, Ashok Gupta, Priyanshu Mathur, Manish Sharma, Rajesh kumar, Vikas Gupta, Manjunath M
Keywords
Related Articles
- EP ID EP339377
- DOI 10.21304/2016.0303.00128
- Views 53
- Downloads 0
Comparing Therapeutic Endpoints Targeted During Septic Shock Resuscitation As Predictors Of Fluid Overload And Survival Outcomes
.
A review of role and use of catecholamines during critical illness in children
There is no fi rm evidence that any one catecholamine is more effective or safer than other in the treatment of shock. The choice of an agent depends on the underlying hemodynamic state. Understanding the pathophysiology...
OSCE: Diabetic Ketoacidosis (DKA)
11year female child, a known case of diabetes mellitus type 1 for the last one year and on insulin therapy brought with history of high-grade fever, burning micturition and fast breathing since 3 days. She was irritable...
PICC line placement in neonates – Importance of lateral view radiograph
Percutaneously inserted central catheters (PICCs) are commonly used in critically ill newborns. A number of complications are associated with migration of the catheter tip into collateral vessels or perforating the centr...
Impact Of Resuscitation With 20% Versus 5% Albumin In Outcome Of Severe Dengue: A Prospective Observational Study
.