Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives.

Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Publication: Berlin : Springer International
Original Publication: Berlin : Springer International, c1987-

Cystinosis*/complications ; Cystinosis*/therapy ; Cystinosis*/diagnosis ; Gastrointestinal Diseases*/etiology ; Gastrointestinal Diseases*/therapy ; Gastrointestinal Diseases*/diagnosis; Humans ; Quality of Life ; Cysteamine/administration & dosage ; Cysteamine/therapeutic use ; Child ; Cystine Depleting Agents/administration & dosage ; Cystine Depleting Agents/therapeutic use

Gastrointestinal (GI) sequelae, such as vomiting, hyperacidity, dysphagia, dysmotility, and diarrhea, are nearly universal among patients with nephropathic cystinosis. These complications result from disease processes (e.g., kidney disease, cystine crystal accumulation in the GI tract) and side effects of treatments (e.g., cysteamine, immunosuppressive therapy). GI involvement can negatively impact patient well-being and jeopardize disease outcomes by compromising drug absorption and patient adherence to the strict treatment regimen required to manage cystinosis. Given improved life expectancy due to advances in kidney transplantation and the transformative impact of cystine-depleting therapy, nephrologists are increasingly focused on addressing extra-renal complications and quality of life in patients with cystinosis. However, there is a lack of clinical data and guidance to inform GI-related monitoring, interventions, and referrals by nephrologists. Various publications have examined the prevalence and pathophysiology of selected GI complications in cystinosis, but none have summarized the full picture or provided guidance based on the literature and expert experience. We aim to comprehensively review GI sequelae associated with cystinosis and its treatments and to discuss approaches for monitoring and managing these complications, including the involvement of gastroenterology and other disciplines.
(© 2024. The Author(s).)

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Keywords: Cysteamine; Cystine-depleting therapy; Dysphagia; Gastrointestinal side effects; Nephropathic cystinosis; Reflux

5UX2SD1KE2 (Cysteamine)
0 (Cystine Depleting Agents)

Date Created: 20240223 Date Completed: 20240827 Latest Revision: 20240909

20240909

PMC11349842

10.1007/s00467-023-06211-6

38393360