REVIEW article

Front. Pediatr.

Sec. Pediatric Nephrology

Volume 13 - 2025 | doi: 10.3389/fped.2025.1584257

This article is part of the Research TopicCystinosis Symposium: A Rare Disease Model for Comprehensive CareView all 3 articles

Transition from Pediatric to Adult Nephropathic Cystinosis Care: the Structure, Challenges and Lessons Learned

Provisionally accepted
Brianna  BorsheimBrianna Borsheim1,2*Andrew  VissingAndrew Vissing1,2,3Cybele  GhosseinCybele Ghossein1,2,3
  • 1Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, United States
  • 2Feinberg School of Medicine, Northwestern University, Chicago, Illinois, United States
  • 3Northwestern Medicine, Chicago, Illinois, United States

The final, formatted version of the article will be published soon.

Cystinosis is a rare, autosomal recessive disorder that results in a build up of the amino acid cystine in the body (1). With early diagnosis and advances in patient prognosis over the years, this has led to an increasing number of adolescents and adults with cystinosis. Multiple studies have shown that adolescents and young adults (YA) with kidney disease transitioning to adult care are at high risk for poor health outcomes (1, 2-4). In addition, patients with cystinosis have cognitive and psychosocial struggles that may interfere with their health care autonomy. Pediatric and adult nephrologists often act as the care-quarterback for patients with cystinosis at the time of transition. Northwestern Medicine (NM) Nephrology has implemented a formal program for the transition of care for young adults with kidney disease from Lurie Children's Hospital to Northwestern Medicine. This multidisciplinary team has assisted in the transition of several patients with nephropathic cystinosis since its inception. There are a myriad of challenges that arise as patients with cystinosis transition from pediatric to adult care including inadequate resourcing, loss of continuity and lack of adult expertise in rare pediatric diseases. While there is no universally accepted definition of transition success, the process should ensure uninterrupted care, address evolving medical needs and support patients' autonomy and self-advocacy in adulthood.

Keywords: Cystinosis, Nephropathic cystinosis, Transition of care, Pediatric Nephrology, health care transition program

Received: 27 Feb 2025; Accepted: 26 May 2025.

Copyright: © 2025 Borsheim, Vissing and Ghossein. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Brianna Borsheim, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, United States

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.