Toddler’s Kidney Stones: A Rare Cause

Explore the case of a toddler with recurrent genitourinary stones and Hematuria. Learn about the rare metabolic disorder that predisposes children to stone formation.

Primary hyperoxaluria


A 3-year-old boy presented with a 6-month history of gross hematuria, and was found to have kidney, bladder, and ureteral stones. Which of the following factors predisposed this boy to genitourinary stone formation?

What is the most likely diagnosis?

Phenylketonuria
Ornithine transcarbamylase deficiency
Primary hyperoxaluria
Acid maltase deficiency (Pompe disease)
Pyruvate kinase deficiency

Calcium Oxalate, Hematuria, Pediatrics, Primary hyperoxaluria, Urolithiasis

Leave a Comment