Awareness, perceptions, and practices regarding transition to adult care for nephropathic cystinosis in Türkiye: a nationwide cross-sectional survey of pediatric nephrologists
Orphanet Journal of Rare Diseases, cilt.21, sa.1, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 21 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.1186/s13023-026-04557-2
- Dergi Adı: Orphanet Journal of Rare Diseases
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
- Anahtar Kelimeler: Health services research, Multidisciplinary care, Nephropathic cystinosis, Pediatric nephrology, Surveys and questionnaires, Transition to adult care
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Evet
Özet
Background: Nephropathic cystinosis is a rare multisystem disorder in which transition from pediatric to adult care is particularly a vulnerable period because of lifelong treatment demands and the need for sustained multidisciplinary follow-up. We aimed to assess awareness, perceptions, and self-reported transition practices among pediatric nephrologists in Türkiye caring for patients with nephropathic cystinosis. Methods: We conducted a nationwide descriptive cross-sectional web-based survey of pediatric nephrologists in Türkiye who had longitudinally followed at least one patient with nephropathic cystinosis. A 59-item questionnaire covering awareness, perceptions, and self-reported practices was administered via Google Forms, and responses were analysed descriptively at the item level. Results: In this nationwide descriptive cross-sectional web-based survey, 48 pediatric nephrologists participated. Respondents worked mainly in university hospitals (47.9%) and training and research hospitals (39.6%) and had a median of 14 years of pediatric nephrology experience (IQR 6–17). Although 66.7% distinguished transition from transfer, familiarity with cystinosis-specific transition models was limited; only 16.7% had ever applied a structured model and 8.3% reported a written transition plan in their center. The most frequently perceived challenges were treatment non-adherence (89.6%) and disruption of multidisciplinary follow-up (87.5%). Most respondents reported marked differences between pediatric and adult services, and the median recommended age for initiating transition planning was 17.5 years (IQR 17–18). Overall, 91.7% supported the development of a national transition model (58.3% considered it definitely necessary and 33.3% necessary but difficult to implement without external support). Conclusions: Among pediatric nephrologists in Türkiye, awareness of transition-related risks in nephropathic cystinosis was high, but structured transition practices were uncommon and initiation of transition planning was generally recommended at a later age than suggested by current guidance. These findings indicate an implementation gap and support the development of a feasible national transition framework that can be adapted to local resources.