ReviewClinical kidney journal2022
Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients.
Review in Clinical kidney journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.Orphanet journal of rare diseases · 2025Pooled it
- Examining the role of social workers within clinical metabolic genetics care.Molecular genetics and metabolism reports · 2026Review
- 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 · 2026Article
- Increased awareness around an ultra-rare disease can improve diagnosis delays: the French example in primary hyperoxalurias.Orphanet journal of rare diseases · 2026Article
- Bridging pediatric to adult care in cystinosis: a scoping review of healthcare transition of care protocols and a roadmap for future practice.BMC nephrology · 2026Article
- Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives.Kidney international reports · 2026Review
- Long-term outcomes in nephropathic cystinosis: a review.Pediatric nephrology (Berlin, Germany) · 2026Review
- Transition of patients with hereditary nephropathies from paediatric to adult care.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Article
- From Molecular Understanding and Pathophysiology to Disease Management; A Practical Approach and Guidance to the Management of the Ocular Manifestations of Cystinosis.International journal of molecular sciences · 2025Review
- Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region.Children (Basel, Switzerland) · 2025Review
- Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients.The British journal of ophthalmology · 2025Article
- Transitioning Care in Nephropathic Cystinosis: Overcoming Challenges in Young Adults.Kidney international reports · 2025Article
- Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned.Frontiers in pediatrics · 2025Review
- Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study.Medicina (Kaunas, Lithuania) · 2024Observational
- Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Gastrointestinal challenges in nephropathic cystinosis: clinical perspectives.Pediatric nephrology (Berlin, Germany) · 2024Review
- Extrarenal complications of cystinosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective.Pediatric nephrology (Berlin, Germany) · 2024Article
- Fertility Management in Cystinosis: A Clinical Perspective.Kidney international reports · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 13 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body. Renal symptoms typically develop in the first few months of life, with extra-renal manifestations becoming apparent over the next 10-20 years, which require coordinated multidisciplinary care. Here, we describe a consensus-based guidance to support the management of adolescents and adults living with cystinosis. The programme was led by a Steering Committee (SC) of six experts in the management of patients with cystinosis, who identified a list of 15 key questions reflecting the multi-organ effects of cystinosis. An Extended Faculty (EF) of eight additional specialists was invited to answer the questions via an online digital platform using a quasi-Delphi approach. The consolidated answers were summarized into recommendations. Where evidence was lacking, recommendations were developed using collective expert consensus. The EF was asked to agree/disagree with the clinical recommendations. The expert-agreed clinical recommendations provide guidance that considers both renal and extra-renal systems. The topics covered are advice on fertility and family planning, consideration of the nervous, muscular, ophthalmic, cardio-respiratory, endocrine, dermatological and gastrointestinal systems, as well as guidance on dental care, diet, lifestyle, and improving quality of life and psychological well-being. In summary, this work outlines recommendations and a checklist for clinicians with a vision for improving and standardizing the multidisciplinary care for patients with cystinosis.
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Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.