Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective,Pediatric Nephrology

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Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective
Pediatric Nephrology ( IF 3 ) Pub Date : 2023-11-18 , DOI: 10.1007/s00467-023-06179-3
Maitena Regnier _{1,

2,

3} , Sacha Flammier _{1,

2} , Mounia Boutaba ₄ , Aliou Abdoulaye Ndongo ₅ , Aude Servais ₆ , Franz Schaefer _{7,

8,

9} , Elena Levtchenko ₁₀ , Justine Bacchetta _{1,

2,

3,

9,

11,

12} , Aurélia Bertholet-Thomas _{1,

2,

3,

9,

11}

Affiliation

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.
Department of Pediatrics A, Hussein Dey University Hospital Center, University of Algiers 1, Algiers, Algeria.
Pediatric Unit, Aristide Le Dantec Hospital Cheikh Anta Diop University of Dakar, Dakar, Senegal.
Service de Néphrologie Et Maladies Métaboliques Adulte Hôpital Necker 149, Paris, France.
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.
Division of Pediatric Nephrology, Department of Pediatrics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.
ORKID : Filière Orphan Kidney Diseases, Montpellier, France.
Diagnostic Et Traitements Des Maladies Osseuses, INSERM 1033 Physiopathologie, Paris, France.

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.

Graphical abstract

中文翻译：

全球肾病性胱氨酸病治疗和检查方面的差异：2023 年展望

背景

肾病性胱氨酸沉着症（NC）是一种罕见的溶酶体疾病，可导致早期肾衰竭和肾外合并症。其预后很大程度上依赖于早期诊断和半胱胺治疗。发展中经济体 (DEing) 在治疗罕见病和慢性病患者时面临许多挑战。这里的目的是评估 DEing 中接受调查和治疗的机会，并评估与发达经济体 (DEed) 之间潜在的不平等。

方法

在这项国际横断面研究中，我们于 2022 年向世界各地的肾脏病学中心发送了一份关于遗传、生物分析和治疗的获取、价格和报销的调查问卷。

结果

共有来自 49 个国家的 109 个中心做出了回应，管理着 741 名患者：43 个中心来自 30 个 DEing 和转型经济体 (TrE)，66 个中心来自 19 个 DEed。到 2022 年，DEing 中的遗传学可用性为 63%，DEed 中的遗传学可用性为 100%，而 30% 的 DEing 患者和 94% 的 DEed 患者的白细胞内胱氨酸水平 (IL-CL) 可用，两者在过去十年中均有所增加，因为可以在 DEing 中获得速释半胱胺和半胱胺滴眼液。然而，延迟释放的半胱胺只能分别输送给 DEing 和 DEed 患者的 7% 和 74%，并且在 DEing 中的报销率仍然很低。