Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Younsi, Mariem El; Trabelsi, Médiha; Youssef, Sandra Ben; Ouertani, Inès; Hammi, Yousra; Achour, Ahlem; Mâazoul, Faouzi; Kharrat, Maher; Gargah, Tahar; Mrad, Ridha

doi:10.1007/s00467-022-05525-1

Cited by 2 publications

(2 citation statements)

References 46 publications

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“…European and Middle Eastern cystinosis patients have been found to carry a 57-kB genomic deletion, causing CTNS loss of function [34,35]. However, studies in Egyptian, Turkish, Tunisian, and Jordanian cystinosis patients demonstrated the absence of this 57-kB genomic deletion and the prevalence of other novel mutations [23,[36][37][38]. In Saudi Arabia, Aldamesh et al identified eight mutations in 21 children with cystinosis, four of which were novel (c.530A>G, c.681G>A, 1013T>G, and c.1018_1041del) [8].…”

Section: Discussionmentioning

confidence: 99%

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience

Algasem,

Zainy,

Alsabban

et al. 2024

Cureus

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Background: There is a lack of regional and local evidence that describes the nature of cystinosis, a multiorgan accumulation of cystine, and its extent of organ damage. Therefore, this study aimed to determine the outcomes of cystinosis in patients who were followed up at a large tertiary care hospital. Methods: Medical records of patients with cystinosis were retrospectively reviewed. Patients' baseline demographics, lab values, medications, comorbidities, and complications were collected and described. Univariable and multivariable logistics regression models were constructed to control for confounders and build prediction models. Results: In our cohort of 39 patients, the mean age was 13.8±9.9 years. Approximately 56.4% of the patients had stunted growth, and the mortality rate was 25.6%. Regarding complications, the majority of patients developed myopathy (79.5%), end-stage renal disease (ESRD) (74.4%), and hypothyroidism (71.8%). Age (odds ratio=1.14, 95% confidence interval (95% CI): 1.012, 1.285) and stunted growth (odds ratio=6.62, 95% CI: 1.024, 42.835) were found to be predictors of renal replacement therapy and renal transplantation, respectively (p<0.047). Conclusion: This study on cystinosis patients reveals a high incidence of renal complications, with a significant mortality rate and common complications such as myopathy and ESRD. Age was found to be an independent risk factor for renal replacement therapy, while stunted growth predicted the need for transplantation. These findings underscore the urgency for early diagnosis, comprehensive treatment, and careful monitoring in managing cystinosis effectively.

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Section: Discussionmentioning

confidence: 99%

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience

Algasem,

Zainy,

Alsabban

et al. 2024

Cureus

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“…Cystinosis, with an estimated incidence of 1 per 100,000 to 200,00 live births (1), is an autosomal recessive lysosomal storage disease caused by bi-allelic mutations in the 17p13.2-located CTNS gene (2). These mutations, more common in populations of Northern Europe and North America of European descent (1,3), result in dysfunctional transport of cystine and, ultimately, in cystine accumulation and crystal formation in various tissues and organs. Cystinosis, in which this dysfunction is systemic, has been associated with renal, retinal, endocrinological, muscular, and neurological complications (4,5).…”

Section: Introductionmentioning

confidence: 99%

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties

Francisco

Foxe

Berruti

et al. 2023

Preprint

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Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life expectancy, necessitating deeper understanding of its impact on neurocognitive function. Behaviorally, some deficits in executive function have been noted in this population, but the underlying neural processes are not understood. Using standardized cognitive assessments and a Go/No-Go response inhibition task in conjunction with high-density electrophysiological recordings (EEG), we sought to investigate the behavioral and neural dynamics of inhibition of a prepotent response and of error monitoring (critical components of executive function) in individuals with cystinosis, when compared to age-matched controls. Thirty-seven individuals diagnosed with cystinosis (7-36 years old, 24 women) and 45 age-matched controls (27 women) participated in this study. Analyses focused on N2 and P3 No-Go responses and error-related positivity (Pe). Atypical inhibitory processing was shown behaviorally. Electrophysiological differences were additionally found between the groups, with individuals with cystinosis showing larger No-Go P3s. Error-monitoring was likewise different between the groups, with those with cystinosis showing reduced Pe amplitudes.

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Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Cited by 2 publications

References 46 publications

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience

The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties

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