Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
OBJECTIVE
To describe two patients with Fanconi's nephropathy secondary to glycogen storage disease and speculate on the possible etiology.


METHODS
Convenience sample.


METHODS
Tertiary care, referral center.


METHODS
Two related children referred for failure to thrive, rickets, and hepatomegaly.


METHODS
Dietary and therapeutic measures for rickets and renal tubular acidosis.


RESULTS
The main laboratory findings were fasting hypoglycemia and massive glucosuria, with evidence of multiple renal tubular dysfunction characteristic of the Fanconi syndrome. Liver and kidney biopsy specimens were consistent with glycogen storage disease. Enzymatic assay of liver homogenates revealed marked deficiency of phosphorylase b kinase in one patient and absent activity in the other.


CONCLUSIONS
Phosphorylase b kinase deficiency 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.
Sanjad
S A
SA
Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Kaddoura
R E
RE
Nazer
H M
HM
Akhtar
M
M
Sakati
N A
NA
D001706:Biopsy; D005198:Fanconi Syndrome / Q000150:complications / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications / Q000201:enzymology* / Q000473:pathology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D010375:Pedigree; D010764:Phosphorylase Kinase / Q000172:deficiency*
D010764:Phosphorylase Kinase