Sa. Sanjad et al., FANCONIS-SYNDROME WITH HEPATORENAL GLYCOGENOSIS ASSOCIATED WITH PHOSPHORYLASE-B KINASE-DEFICIENCY, American journal of diseases of children [1960], 147(9), 1993, pp. 957-959
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.