Early and unusual presentation of type I primary hyperoxaluria.
Oxalosis, the systemic deposition of calcium oxalate crystals, may occur in several hyperoxaluric states due to increased production or absorption of oxalate. Type I primary hyperoxaluria (PH I) is a rare autosomal recessive disease caused by deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase. Most patients with this disorder are noticed in mid-childhood or even later due to symptoms related to urinary stone disease. In this paper, we report a patient with PH I with a rapid downhill progression to renal failure and death. Oxalosis was detected by renal biopsy, and the diagnosis of PH I was confirmed by increased urinary oxalate and glycolate levels.
Giugliani
R
R
Medical Genetics Unit, Clinical Hospital of Porto Alegre, Brasil.
Jardim
L
L
Edelweiss
M I
MI
Rosa
A
A
D058186:Acute Kidney Injury / Q000209:etiology*; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications / Q000235:genetics*; D007223:Infant; D008297:Male; D013997:Time Factors