Jornal de relatos de casos clínicos

Fanconi Bickel Syndrome: A Rare Entity

Abstract

Javeed Iqbal, Ikhlas Ahmad, Md Asif Ahmed and Ambreen A Ahangar

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 nephromegaly, impaired utilization of glucose and galactose, proximal renal tubular acidosis, hypophosphatemia rickets, and short stature. This is an autosomal recessive disorder discovered in 1949 and the pathogenic mutation of GLUT 2 gene of hepatocytes, beta cells of pancreas and renal tubules were discovered in 1997.