Gastrointestinal Manifestations of Adult Cystinosis in Iran: A Descriptive Study.

ABSTRACT

Background: Cystinosis is a multisystemic disease caused by the accumulation of cystine crystals in the kidney and many other organs. This disease most often involves children. Recent developments in the treatment procedures have improved the chance of patients surviving as long as puberty. This study discusses the importance of immediate diagnosis and early treatment of the disease with cystagon, which reduces gastrointestinal complications in such patients. Methods: This descriptive study was performed on 19 adult patients (over 18 years old) with cystinosis who were observed by nephrologists from medical universities throughout Iran. Gastrointestinal complications were studied in the patients. Data were analyzed using SPSS Version 22. Results: The mean age of patients at the time of enrollment was 23.89 ± 5.06 years. Seventeen (89.4%) patients of this group had received renal replacement therapy (3 dialysis, 14 renal transplantation) due to end-stage renal disease and 2 (10.5%) of them were in stages 2 and 3 of chronic kidney disease. Three patients (15.7%) had hepatomegaly and splenomegaly; liver enzymes were normal in all patients. One patient (5.2%) had increased portal vein flow velocities, 2 of the patients (10.5%) underwent percutaneous endoscopic gastrostomy implantation due to severe dysphagia and eventually died. Most gastrointestinal symptoms in patients were nausea and abdominal pain. Conclusion: Early diagnosis and treatment with the proper dose of cystagon can increase life expectancy, reduce complications, and improve the patient's quality of life.