Difficulties in the surgical treatment of patients with cystinuria – a case report

Abstract

Cystinuria is an autosomal recessive disorder. Two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) and SL7A9 (chromosome 19q12). Their mutations cause high clinical variability in the course of the disorder. Over the past 10 years, an increase in the prevalence of cystinuria has been observed, which is now approximately 1:7,000 newborns. Similarly to cystic fibrosis, it is one of the most common diseases with this pattern of inheritance. Its clinical picture usually includes active stone formation (at least twice a year) and short periods of remission. Cystinuria relatively quickly leads to chronic renal failure. Patients with this disorder require constant supervision as well as monitoring of treatment outcomes. This paper presents a case of a 17-year-old boy diagnosed with cystinuria at the age of 3 months, when first bilateral pelvicalyceal stones were found on ultrasound. Immediately after the diagnosis, fluid supply was increased, treatment with captopril and a mixture of citrates (Shohl’s solution) was initiated, which in later years was switched to potassium citrate/tiopronin. The implemented conservative treatment and constant nephrological care failed to prevent relapses in the patient. The boy underwent a total of 40 surgical interventions, including minimally invasive endoscopic procedures (extracorporeal lithotripsy, percutaneous nephrolithotripsy, ureteroscopic lithotripsy, retrograde intrarenal surgery) and three open surgeries to completely remove kidney stones.