Document Type

Article

Publication Date

7-14-2026

Identifier

DOI: 10.1186/s12882-026-05061-2; PMCID: PMC13366883

Abstract

Cystinosis is a rare lysosomal storage disorder that affects approximately 1 in 100,000 to 200,000 live births worldwide. Long-term graft success in cystinosis depends on cysteamine adherence and structured multidisciplinary transition, supported by protocols developed by both pediatric nephrologists and hospital organizations. This review explores institutional and regional care models, structured programs such as the RISE protocol and Got Transition's Six Core Elements, and major barriers including adult nephrology expertise, psychosocial stressors, and insurance coverage gaps. Additionally, we explore the impact of digital health tools for their role in supporting cysteamine adherence and maintaining continuity of care. Emerging technologies such as machine learning also provide future opportunities to improve patient care during the transition period. Transition plans must also integrate digital tools and mental health-informed strategies tailored to Gen Z and Alpha cystinosis patients. Due to the lifelong nature of cystinosis and the complexity of adolescent development, transition models are essential to promoting long-term autonomy in patients. We conducted a comprehensive search of the PubMed databases for studies published between 2000 and 2025 that addressed structured transition protocols and long-term outcomes in pediatric patients with cystinosis. A critical analysis of existing cystinosis transition protocols is essential to evaluate their strengths and limitations and to identify approaches better tailored to the needs of pediatric cystinosis patient populations. This review aims to evaluate elements of existing protocols, highlight components of a successful transition, and propose future strategies to improve care in patients with cystinosis.

Journal Title

BMC nephrology [electronic resource]

Volume

27

Issue

1

MeSH Keywords

Humans; Cystinosis; Transition to Adult Care; Child; Cysteamine; Adult; Adolescent

PubMed ID

42157047

Keywords

Cystinosis; Healthcare transition; Medication adherence; Pediatric nephrology; Transition of care

Comments

This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.

Publisher's Link: https://link.springer.com/article/10.1186/s12882-026-05061-2

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