A Report on Nephropathic Cystinosis in Iran- A Scoping Review
DOI:
https://doi.org/10.61186/Keywords:
Nephropathic cystinosis, Cystine diseases, Cysteamine, Lysosomal storage diseases, MorbidityAbstract
Cystinosis is a rare lysosomal disease affecting all organs. The outcome and the quality of life varies depending on the early diagnosis, patient adherence to medication, and regular follow up. There is lack of enough evidence about cystinosis patients in Iran. In this review, we are going to find the incidence and prevalence, the age at diagnosis, clinical presentation, the comorbidities, and the outcome of disease in Iranian children. We searched all available database of Iran published between January 1994 and January 2023. The search was filtered for the Iranian population. Totally 1125 cystinosis patients over 37 years (between 1985 to 2023) was identified. The estimated incidence rate was 1.03 per 100000 live births. The pooled prevalence was 28.3 (95%CI:14.9- 46) per 1000000 populations. Median age at presentation, diagnosis, and occurrence of end stage kidney disease were 0.73, 1.5, and 8.3 years, respectively. The most frequent presentation that led to evaluation was failure to thrive (94%). Ophthalmic exam and bone marrow aspiration were the mostly used methods for diagnosis. The most common detected mutation was c.681G4A/c.681G4A. The cysteine level represent that more than half of the cases did not receive correct dosage of medication. Almost 8.7% of cystinosis patients reached adulthood. Launching to transition protocol is mandatory for surviving to adulthood. There were scant data in regard to extrarenal outcomes, systemic and ophthalmic medications side effects, longitudinal ophthalmic involvement reports, and the quality of life.
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