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
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- EP ID EP339377
- DOI 10.21304/2016.0303.00128
- Views 75
- Downloads 0
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