Rare Diseases Symptoms Automatic Extraction

A rare case of primary hyperoxaluria type 1 co-existing with autosomal-dominant polycystic kidney disease in a newborn.

[primary hyperoxaluria type 1]

We describe the first reported case to our knowledge of an infant presenting with the extremely rare association of primary hyperoxaluria type 1 (PH-1) and autosomal-dominant polycystic kidney disease (ADPKD). This diagnosis was suspected on the basis of the renal US findings and confirmed by complementary examinations. It led to severe oxalosis with very rapid onset of end-stage renal failure (ESRF) and required combined liver-kidney transplantation at the age of 18 months. The boy died 13 days after transplantation.