Evidence map›Paper›PMID 38380220›Full record

ArticleCureus2024

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

Reem Algasem, Nedaa Zainy, Essam Alsabban, Hamad Almojalli, Syed Raza, Tariq Ali, Deiter Broering, Nawal Rubaya, Hassan Aleid

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Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Reem AlgasemDepartment of Pharmacy, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Nedaa ZainyDepartment of Pharmacy, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Essam AlsabbanDepartment of Pediatric Nephrology, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Hamad AlmojalliDepartment of Pediatric Transplant Nephrology, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Syed RazaDepartment of Kidney and Pancreas Transplant, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Tariq AliDepartment of Kidney and Pancreas Transplant, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Deiter BroeringDepartment of Kidney and Pancreas Transplant, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Nawal RubayaDepartment of Kidney and Pancreas Transplant, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Hassan AleidDepartment of Kidney and Pancreas Transplant, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThere 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.

methodsMedical 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.

resultsIn 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).

conclusionThis 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.

Indexed as

complicationscystinosisimmediate release cysteaminemanifestationsaudi arabia

Identifiers

PMID38380220
PMCPMC10877213

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