ArticlePediatric nephrology (Berlin, Germany)2024
Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective.
Article in Pediatric nephrology (Berlin, Germany), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 10 citations in OpenAlex.
- Urinary YKL-40 as a diagnostic biomarker for cystinosis.JCI insight · 2026Article
- Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004-2024).European journal of human genetics : EJHG · 2026Review
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India.Childhood kidney diseases · 2026Article
- Long-term outcomes in nephropathic cystinosis: a review.Pediatric nephrology (Berlin, Germany) · 2026Review
- Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025Article
- Adherence to delayed-release cysteamine in nephropathic cystinosis over time: data from the prospective CrYSTobs cohort study.Pediatric nephrology (Berlin, Germany) · 2025Article
- French pediatric nephrologists are in crisis: the consequences of paradoxical injunctions and a plea for action.Pediatric nephrology (Berlin, Germany) · 2024Article
- Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.Frontiers in genetics · 2024Article
- Bone Material Properties in Bone Diseases Affecting Children.Current osteoporosis reports · 2023Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 6 countries.
Funding
Abstract
backgroundNephropathic cystinosis (NC) is a rare lysosomal disease, leading to early kidney failure and extra-renal comorbidities. Its prognosis strongly relies on early diagnosis and treatment by cysteamine. Developing economies (DEing) face many challenges when treating patients for rare and chronic diseases. The aim here is to evaluate the access to investigations and treatment in DEing, and to assess for potential inequalities with Developed Economies (DEed).
methodsIn this international cross-sectional study, a questionnaire on access, price and reimbursement of genetic, biological analyses, and treatment was sent to nephrology centers worldwide during 2022.
resultsA total of 109 centers responded, coming from 49 countries and managing 741 patients: 43 centers from 30 DEing and Economies in transition (TrE), and 66 from 19 DEed. In 2022, genetics availability was 63% in DEing and 100% in DEed, whereas intra leukocytes cystine levels (IL-CL) were available for 30% of DEing patients, and 94% of DEed patients, both increasing over the last decade, as has access to immediate release cysteamine and to cysteamine eye drops in DEing. However, delayed released cysteamine can be delivered to only 7% vs. 74% of patients from DEing and DEed, respectively, and is still poorly reimbursed in DEing.
conclusionsOver the last decade, access to investigations (namely genetics and IL-CL) and to cysteamine have improved in DEing and TrE. However, discrepancies remain with DEed: access to delayed released cysteamine is limited, and reimbursement is still profoundly insufficient, therefore limiting their current use.
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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.