A Report on Nephropathic Cystinosis in Iran- A Scoping Review

Area of Science:

• Medical Genetics
• Pediatrics
• Rare Diseases

Background:

• Cystinosis is a rare lysosomal storage disease impacting multiple organs.
• Outcomes and quality of life in cystinosis patients depend on early diagnosis, medication adherence, and regular follow-up.
• There is a lack of comprehensive data on cystinosis patients in Iran.

Purpose of the Study:

• To determine the incidence, prevalence, age at diagnosis, clinical presentation, comorbidities, and outcomes of cystinosis in Iranian children.
• To identify common mutations and diagnostic methods used in Iran.
• To assess medication adherence and survival rates.

Main Methods:

• A systematic search of Iranian databases from January 1994 to January 2023.
• Inclusion of data from 1125 cystinosis patients diagnosed between 1985 and 2023.
• Analysis of incidence, prevalence, age at diagnosis, clinical features, diagnostic methods, mutations, and outcomes.

Main Results:

• Estimated incidence: 1.03 per 100,000 live births; Pooled prevalence: 28.3 per 1,000,000.
• Median age at presentation, diagnosis, and end-stage kidney disease: 0.73, 1.5, and 8.3 years, respectively.
• Failure to thrive was the most frequent presentation (94%); c.681G4A/c.681G4A was the most common mutation. Over half of patients had suboptimal medication dosage, and only 8.7% reached adulthood.

Conclusions:

• Early diagnosis and consistent treatment are crucial for improving cystinosis patient outcomes in Iran.
• Transition protocols are essential for patients surviving into adulthood.
• Further research is needed on extrarenal outcomes, medication side effects, and quality of life.