Primary hyperoxaluria type 1: Clinical, genetic, and evolutionary characteristics in Tunisian children.

ABSTRACT

INTRODUCTION: There are three types of primary hyperoxaluria, with type 1 considered the most severe. AIM: To analyze the clinical, genetic, and evolutionary characteristics of type 1 primary hyperoxaluria with pediatric onset. METHODS: This was a retrospective, descriptive study that included Tunisian children under the age of 18 at the time of diagnosis over a period of 25 years (January 1, 1996, to December 31, 2022). RESULTS: Thirty-five patients were included, with a mean age of 4.1 years. The most common presenting circumstances of the disease were nephrolithiasis and end-stage renal failure. The average serum creatinine level was 225.42 µmol/l. Five mutations were identified, with the p.Ile244Thr mutation being the most prevalent. Nephrocalcinosis, surgical intervention, and a creatinine level ≥57 µmol/l were predictive of progression to end-stage renal failure. The infantile form was predictive of mortality. CONCLUSIONS: Screening for the disease would improve the prognosis of this condition.