Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective.

Autor: Regnier M; Centre de Référence Des Maladies Rénales Rares Néphrogones, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon & Université Claude-Bernard, Lyon 1, Lyon, France.; Service de Néphrologie, Rhumatologie Et Dermatologie Pédiatriques, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Boulevard Pinel, 69677, Bron Cedex, France.; Faculté de Médecine Lyon Est, Université Claude Bernard, Lyon 1, Lyon, France., Flammier S; Centre de Référence Des Maladies Rénales Rares Néphrogones, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon & Université Claude-Bernard, Lyon 1, Lyon, France.; Service de Néphrologie, Rhumatologie Et Dermatologie Pédiatriques, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Boulevard Pinel, 69677, Bron Cedex, France., Boutaba M; Department of Pediatrics A, Hussein Dey University Hospital Center, University of Algiers 1, Algiers, Algeria., Ndongo AA; Pediatric Unit, Aristide Le Dantec Hospital Cheikh Anta Diop University of Dakar, Dakar, Senegal., Servais A; Service de Néphrologie Et Maladies Métaboliques Adulte Hôpital Necker 149, Paris, France., Schaefer F; Division of Pediatric Nephrology, University Children's Hospital Heidelberg, Heidelberg, Germany.; International Pediatric Nephrology Association (IPNA), C/o Nationwide Children's Center for Faculty Development (ED-5081), 700 Children's Drive, Columbus, OH 43205, USA.; European Rare Kidney Disease Reference Network (ERK-Net) Project Office, Im Neuenheimer Feld 130.3, D-69120 Heidelberg, Germany., Levtchenko E; Division of Pediatric Nephrology, Department of Pediatrics, University Hospitals Leuven, University of Leuven, Leuven, Belgium., Bacchetta J; Centre de Référence Des Maladies Rénales Rares Néphrogones, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon & Université Claude-Bernard, Lyon 1, Lyon, France.; Service de Néphrologie, Rhumatologie Et Dermatologie Pédiatriques, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Boulevard Pinel, 69677, Bron Cedex, France.; Faculté de Médecine Lyon Est, Université Claude Bernard, Lyon 1, Lyon, France.; European Rare Kidney Disease Reference Network (ERK-Net) Project Office, Im Neuenheimer Feld 130.3, D-69120 Heidelberg, Germany.; ORKID : Filière Orphan Kidney Diseases, Montpellier, France.; Diagnostic Et Traitements Des Maladies Osseuses, INSERM 1033 Physiopathologie, Paris, France., Bertholet-Thomas A; Centre de Référence Des Maladies Rénales Rares Néphrogones, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon & Université Claude-Bernard, Lyon 1, Lyon, France. aurelia.bertholet-thomas@chu-lyon.fr.; Service de Néphrologie, Rhumatologie Et Dermatologie Pédiatriques, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Boulevard Pinel, 69677, Bron Cedex, France. aurelia.bertholet-thomas@chu-lyon.fr.; Faculté de Médecine Lyon Est, Université Claude Bernard, Lyon 1, Lyon, France. aurelia.bertholet-thomas@chu-lyon.fr.; European Rare Kidney Disease Reference Network (ERK-Net) Project Office, Im Neuenheimer Feld 130.3, D-69120 Heidelberg, Germany. aurelia.bertholet-thomas@chu-lyon.fr.; ORKID : Filière Orphan Kidney Diseases, Montpellier, France. aurelia.bertholet-thomas@chu-lyon.fr.
Jazyk: angličtina
Zdroj: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Apr; Vol. 39 (4), pp. 1113-1123. Date of Electronic Publication: 2023 Nov 18.
DOI: 10.1007/s00467-023-06179-3
Abstrakt: Background: Nephropathic 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).
Methods: In 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.
Results: A 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.
Conclusions: Over 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.
(© 2023. The Author(s).)
Databáze: MEDLINE
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