Introduction: Fanconi-Bickel syndrome (FBS), is a rare autosomal recessive disorder of carbohydrate metabolism (FBS, OMIM 227810), caused by defects in the facilitative glucose transporter glut-2, which transports glucose in and out of hepatocytes, pancreatic β cells and basolateral membranes of intestinal and renal epithelial cells. Characteristic features include growth failure, hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, and renal tubular nephropathy.
Cases: Six patients from different unrelated Sudanese families presented to us with features of FBS. Mean age of presentation was 4.6 months. Male: female ratio was 1:1. All affected children presented in infancy with growth failure and features of rickets. Polyuria was the first symptom to be noticed by the family. Recurrent tachypnea and dehydration wrongly diagnosed as pneumonia or gastroenteritis. Many siblings died undiagnosed with a similar clinical picture. Features of rickets were prominent on examination as well as abdominal distention and liver enlargement. Investigation confirmed presence of proximal renal tubular acidosis and hypophosphatemic rickets. All cases had fasting hypoglycemia and postprandial hyperglycemia. Clinical diagnosis for most cases were confirmed by liver biopsy, while molecular genetics confirmed presence of SLC2A2 mutation in others.
Conclusion: We are adding more cases of Fanconi Bickel syndrome to the case which we published before to show that Fanconi Bickel syndrome is not uncommon in Sudan where there is a high consanguinity rate. This is the largest series from sub-Saharan Africa. Cases can be missed as the clinical picture at presentation can mimic some of the common local problems such as gastroenteritis and pneumonia. Increase in awareness among paediatricians and easy accessibility to molecular genetics through help from international institutes have helped in diagnosing these cases.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology