DEBRE-DE-TONI-FANCONI SYNDROME WITH GLYCOGENESIS OF LIVER

Case-report of a girl with Debré-de-Toni-Fanconi-Syndrome and glycogenosis with clinical and biochemical data. Genetic transmission similar to primary tubulopathia could be deduced from family screening. The chief symptoms in this patient, who could be observed from the age of 6 months to 5 years, were dwarfsim, hepatomegaly, vitamin D resistant rickets and glucoamino-phosphate diabetes with polyuria and polydipsia. Furthermore hypoglycaemia with glycolability, compensated acidosis, transitory hyperlipidaemia, hypophosphataemia and hypokalaemia could be observed. The extent of the proximal tubular defect was determined by clearance and titration measurements. The glucosuria was caused by a diabetes renalis type B. The phosphate and glucose titration curves were similar. Measurement of tubular reabsorption proved that the unspecific hyperaminoaciduria was purely renal. Tolerance tests demonstrated glucose and galactose utilisation defects, whilst erythrocyte galactose turnover was found to be normal. The treatment consisted in vitamin D administration, phosphate and potassium substitution and in a lowfat, high-protein and carbohydrate diet. We have been able to achieve a normal growth rate during the last 2 1/2 years with these measures. © 1968 Springer-Verlag.