Gastrointestinal (GI) complications are nearly universal in patients with cystinosis due to the effects of cystine accumulation and crystal deposition within the GI tract, as well as the side effects of cystinosis treatments.1-4
Patients may experience dysphagia, nausea, vomiting, early satiety, reflux, abdominal pain, altered motility, and diarrhea, among other GI symptoms. Cystinosis can also affect the liver, spleen, and pancreas. In some cases, cystine accumulation can cause an enlarged spleen or liver or cause portal hypertension.1,2,4,5
Patients with cystinosis should receive comprehensive multidisciplinary care from gastroenterologists, hepatologists, and dietitians to help manage GI symptoms and side effects.5,6
Regular monitoring and management of GI complications may involve2-4,6,9-12
Asking patients about bothersome GI symptoms and side effects
Placing an enteral feeding tube for patients with poor appetite and/or frequent vomiting
Discussing approaches to mitigate medication side effects, such as altering timing and reducing drug-food interactions
Monitoring for dysphagia by patient report and swallowing studies
Assessing liver function annually, unless new symptoms emerge
Considering medications to address specific GI symptoms, such as proton pump inhibitors, H2 receptor antagonists, and/or antinausea medications as indicated
GI complications are a common cause of treatment nonadherence in patients with cystinosis, and addressing these challenges is important to optimize patient outcomes.2-4
1. Kasimer RN, Langman CB. Adult complications of nephropathic cystinosis: a systematic review. Pediatr Nephrol. 2021;36(2):223-236. 2. Elenberg E, Norling LL, Kleinman RE, Ingelfinger JR. Feeding problems in cystinosis. Pediatr Nephrol. 1998;12(5):365-370. 3. Dohil R, Newbury RO, Sellers ZM, Deutsch R, Schneider JA. The evaluation and treatment of gastrointestinal disease in children with cystinosis receiving cysteamine. J Pediatr. 2003;143(2):224-230. 4. Dohil R, Fidler M, Barshop B, et al. Esomeprazole therapy for gastric acid hypersecretion in children with cystinosis. Pediatr Nephrol. 2005;20(12):1786-1793. 5. Topaloglu R, Gültekingil A, Gülhan B, et al. Cystinosis beyond kidneys: gastrointestinal system and muscle involvement. BMC Gastroenterol. 2020;20:242. 6. Levtchenko E, Servais A, Hulton SA, et al. Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients. Clin Kidney J. 2022;15(9):1675-1684. 7. Dohil R, Cabrera BL. Treatment of cystinosis with delayed-release cysteamine: 6-year follow-up. Pediatr Nephrol. 2013;28(3):507-510. 8. Treem WR, Rusnack EJ, Ragsdale BD, Seikaly MG, DiPalma JS. Inflammatory bowel disease in a patient with nephropathic cystinosis. Pediatrics. 1988;81(4):584-587. 9. Ariceta G, Camacho JA, Fernández-Obispo M, et al. Cystinosis in adult and adolescent patients: recommendations for the comprehensive care of cystinosis. Nefrología. 2015;35(3):304-321. 10. Emma F, Nesterova G, Langman C, et al. Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant. 2014;29:iv87-iv94. 11. Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN. Cystinosis: practical tools for diagnosis and treatment. Pediatr Nephrol. 2011;26(2):205-215. 12. Lucan VC, Berardinelli L. Gastrointestinal side effects of post-transplant therapy. J Gastrointestin Liver Dis. 2016;25(3):367-373.
