Challenges in diagnosis and treatment of cystinuria patients with Urolithiasis: multicenter patient centered study

Cystinuria represents a rare cause of urolithiasis, accounting for 1% of all cases. However, it poses unique challenges in diagnosis and management. This study aimed to examine the challenges of managing cystine stones from the perspective of cystinuria patients.

Following ethical approval, we reviewed the medical records of cystine stone patients treated at four tertiary centers from 2016 to 2021 and surveyed them on their perceptions of cystinuria. It included questions about demographic characteristics, herbal treatments, pain management, online engagement, disease outcomes, and cystinuria-related fears.

The study included 28 adults with cystinuria nephrolithiasis, with a mean age of 30.5 years. Of these, 78.6% had consanguineous parents, and the first stone episode occurred at a mean of 14.82 years age. Family history of Cystinuria was encountered in 82.1%. Cystinuria was diagnosed after a mean of 6.43 years from the first stone episode, and stone analysis was performed in 22/28 after a mean of 3.86 years from the first stone episode. Only 17 patients (60.8%) underwent metabolic evaluation for kidney stones. Regarding non-surgical treatments, 13 (46.5%) patients received alkalinization medication, and only 10 (35.7%) were prescribed chelating agent therapy. Additionally, 50% of patients took herbal remedies.

The diagnosis of cystinuria is often delayed, leading to a delay in receiving medical treatment (alkalinization and chelating agents) and poor health education and counseling. Thus, referring cystinuria patients to tertiary hospitals and providing a multidisciplinary approach might decrease the morbidity of the disease and enhance their well-being.