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

Cystinosis is a rare autosomal recessive disease characterised by an accumulation of cystine in the lysosomes. It is caused by pathogenic variants of the cystinosin gene (CTNS), which interrupts the transport of cystine from the lysosomes into the cytosol. Intra-lysosomal cystine accumulation leads to subsequent cellular dysfunction. Cystinosis has an incidence of 0.5–1/100,000 live births. There are three forms of cystinosis: nephropathic cystinosis, juvenile cystinosis, and ocular cystinosis, with nephropathic cystinosis being the most prevalent disease subtype. Renal impairment is the most common manifestation of disease. Extrarenal manifestations of cystinosis include hypothyroidism, diabetes, and hypogonadism. The current treatment for cystinosis is cysteamine, a cystine-depleting agent. This is not a curative treatment and only aims to slow the progression of disease. A total of 90% of cystinosis patients progress to kidney failure within the first 20 years of life. Kidney transplantation is the only option available to patients once the disease has progressed to this stage. This review highlights the pathogenesis and clinical manifestations of cystinosis, as well as potential future treatment options.

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An Incomplete Picture: A Scoping Review of Global, Original Qualitative Rare Disease Research

Gush,

Moosa

2024

Preprint

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Background Rare diseases, globally and collectively, pose a significant social and economic burden with far reaching implications in both high and middle- to low-income countries. An in-depth understanding of the first-hand experiences of rare disease patients, caregivers and service providers is required to fully understand the challenges these individuals and groups face. Only once such an understanding has been developed, can steps be taken to collaborate towards effectively addressing the relevant issues. Results The current scoping review searched the most prominent databases in order to isolate original, qualitative, rare disease research published between 2004 and 2024 to determine the scope and nature of existing qualitative rare disease research. The analysis of the 150 identified studies shows a substantial overrepresentation of research from both Europe (53%) and North America (29%), and a severe underrepresentation of qualitative rare disease research from Africa (1%). Conclusions The lack of qualitative rare disease research from Africa represents a lack of understanding, not only of the lived experiences of Africans, but also an ignorance of the complex cultural factors which would potentially affect the experience of “commonly” identified themes, such as interactions with healthcare professionals and parent advocacy, stigma and social support.

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

Cited by 4 publications

References 35 publications

French pediatric nephrologists are in crisis: the consequences of paradoxical injunctions and a plea for action

French pediatric nephrologists are in crisis: the consequences of paradoxical injunctions and a plea for action

Cystinosis — a review of disease pathogenesis, management, and future treatment options

An Incomplete Picture: A Scoping Review of Global, Original Qualitative Rare Disease Research

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