Primary hyperoxaluria: Cases report.

ABSTRACT

Primary hyperoxaluria is a rare disease characterized by recurrent calcium oxalate nephrolithiasis and nephrocalcinosis. The most diagnostic laboratory finding if an increased amount of urinary oxalate. The inheritance is presumed to be autosomal recessive but autosomal dominant has been repoeted. Here are reported cases of a family a boy, his brother, and his father. The boy, the most severely affected died at the age of 8 years. His 6-year-old brother, treated by 6 episodes of Extracorporeal Piezo Electric Lithotripsy (EPL); followed with high doses of pyridoxine and thiazides orally, is still alive with normal renal function. His father was treated by 6 episodes of EPI but without medication. The authors suggest that investigations for metabolic causes should be done in children with positive family history of nephrolithiasis.