FANCONIS-SYNDROME WITH HEPATORENAL GLYCOGENOSIS ASSOCIATED WITH PHOSPHORYLASE-B KINASE-DEFICIENCY

Objective.-To describe two patients with Fanconi's nephropathy seconda ry to glycogen storage disease and speculate on the possible etiology. Design.-Convenience sample. Setting.-Tertiary care, referral center. Patients.-Two related children referred for failure to thrive, rickets , and hepatomegaly. Intervention.-Dietary and therapeutic measures for rickets and renal tubular acidosis. Measurements and Results.-The mai n laboratory findings were fasting hypoglycemia and massive glucosuria , with evidence of multiple renal tubular dysfunction characteristic o f the Fanconi syndrome. Liver and kidney biopsy specimens were consist ent with glycogen storage disease. Enzymatic assay of liver homogenate s revealed marked deficiency of phosphorylase b kinase in one patient and absent activity in the other. Conclusion.-Phosphorylase b kinase d eficiency may be causally related to hepatorenal glycogenosis with the Fanconi syndrome. More patients with this syndrome need to be studied before a definitive causal role is implicated.