Gastrointestinal Complications in Cystinosis

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

GI challenges in cystinosis1-8

Upper GI icon

Upper GI Tract
  • Dysphagia
  • Nausea/vomiting
  • Anorexia and/or early satiety
  • Abdominal/gastric pain
  • Acid reflux
  • GI ulceration and/or bleeding
  • Gastroparesis
  • Feeding tube concerns

Lower GI icon

Lower GI Tract
  • Bloating/abdominal distension
  • Intestinal dysmotility/altered peristalsis
  • Diarrhea
  • Constipation
  • Bowel obstruction/pseudo-obstruction
  • Irritable bowel syndrome
  • Inflammatory bowel disease

Liver icon

  • Abnormal liver function test results
  • Hepatomegaly
  • Splenomegaly
  • Portal hypertension

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

Gi icon

Asking patients about bothersome GI symptoms and side effects

Dysphagia icon

Monitoring for dysphagia by patient report and swallowing studies

Liver function icon

Assessing liver function annually, unless new symptoms emerge

Feeding Tube icon

Placing an enteral feeding tube for patients with poor appetite and/or frequent vomiting

Side effects icon

Discussing approaches to mitigate medication side effects, such as altering timing and reducing drug-food interactions

Medication icon

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

Consider Specific Treatment
and Supportive Therapies

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Managing Symptoms

See How Cystinosis Progresses
at Different Stages

Review Complications
of Cystinosis

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.