Orphanet journal of rare diseases · 2026
Awareness, perceptions, and practices regarding transition to adult care for nephropathic cystinosis in Türkiye: a nationwide cross-sectional survey of pediatric nephrologists.
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Özdemir Atikel Yeşim, Bakkaloğlu Sevcan A, Yılmaz Alev, Çelebi Tayfur Aslı, Kavaz Tufan Aslı, Kara Aslıhan, Pınarbaşı Ayşe Seda, Çaltık Yılmaz Aysun, Atmış Bahriye, Alpman Bedriye Nuray, Avcı Begüm, Yazıcıoğlu Burcu, Demirci Bodur Ece, Leventoğlu Emre, Serdaroğlu Erkin, Akyol Önder Esra Nagehan, Nalçacıoğlu Hülya, Yılmaz Kenan, Akacı Okan, Yavaşcan Önder, Türkkan Özde Nisa, Özlü Sare Gülfem, Arslansoyu Çamlar Seçil, Sürmeli Döven Serra, Yılmaz Songül, Tabel Yılmaz, Topaloğlu Rezan
Аннотация
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.
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.