Peculiar Morphology of Stones in Primary Hyperoxaluria
Résumé
Primary hyperoxaluria type 1 is a rare inherited disease leading to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and renal failure, ultimately requiring combined kidney and liver transplantation.1,2 Because of the rarity of this disorder, the diagnosis is often missed or delayed by several years, especially when the disease first manifests in adulthood, thus depriving patients of the benefits of therapeutic measures that have been instituted in a timely manner.2,3 Therefore, any method allowing early diagnosis is eagerly awaited.4 However, although nephrolithiasis is the revealing symptom in the great majority of patients with this disease at any age, until now little attention has been paid to the analysis of stones as a possible diagnostic tool.