Evaluating the efficacy of triple therapy incorporating low-dose D-penicillamine in pediatric patients with cystinuria: A case series analysis

Abstract

Cystinuria is a hereditary disorder characterized by recurrent kidney stone formation, which poses significant challenges to affected individuals and their families. This study examines four pediatric cases of cystinuria referred to the Shahrekord Pediatric Nephrology Clinic in southwestern Iran over different time periods. Due to the presence of large and numerous stones, these patients experienced substantial renal injury, necessitating multiple surgical interventions and stone fragmentation procedures. Following the initiation of a medical treatment regimen that included low-dose D-penicillamine capsules (10 mg/kg daily), vitamin B6 tablets (4 mg/kg daily), and potassium citrate (1 mL/kg daily), none of the patients required further surgical intervention, underwent stone fragmentation, or experienced new renal damage. Additionally, no adverse effect related to the treatment was observed during several years of follow-up. The patients underwent routine laboratory tests and general ultrasound examinations every three months, and no drug-related complications were noted throughout the follow-up period.

Keywords: Cystinuria, Kidney stones, Children, Treatment, Therapeutics