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Incidence of mucopolysaccharidoses in Tunisia
Hadhami Ben Turkia1, Néji Tebib, Hatem Azzouz
1Paediatric Department, La Rabta Hospital, Tunis
Background:
The mucopolysaccharidoses (MPS) are a devastating heterogenous group of lysosomal storage disorders.
Aim:
To evaluate the epidemiological profile of MPS in Tunisia.
Methods:
we conducted a retrospective epidemiological survey covering the period 1970-2005. Multiple sources were used to identify affected patients.
Results:
Ninety six confirmed MPS cases were collected from 132 suspected cases found in the surveyed data. Of the ninety six confirmed cases, 20% were from multiplex families. Consanguinity was found in 83% of the families. The crude rate for all types of mucopolysaccharidoses was 2.3 cases in 100,000 live births. The prevalence of MPS type I, III and IV, those most frequently occurring in the collected data, were estimated at 0.63, 0.7 and 0.45 per 100,000 live births, respectively. The cumulative incidence of MPS type VI (0.3 per 105 live births) was higher than reported in European countries; but, it is likely that...
Conclusion:
The reported frequency of all types of MPS in Tunisia is underestimated.
Insights
The study found the frequency of mucopolysaccharidoses (MPS) in Tunisia is likely underestimated, with a crude rate of 2.3 cases per 100,000 live births. Consanguinity was high in affected families.
Area of Science:
- Medical Genetics
- Epidemiology
- Lysosomal Storage Disorders
Background:
- Mucopolysaccharidoses (MPS) are a group of rare, inherited metabolic diseases.
- These lysosomal storage disorders lead to severe health complications.
Purpose of the Study:
- To determine the epidemiological characteristics of MPS in Tunisia.
- To establish the prevalence and incidence of different MPS types in the region.
Main Methods:
- A retrospective epidemiological survey was conducted from 1970 to 2005.
- Data was collected from multiple sources to identify patients with suspected or confirmed MPS.
Main Results:
- Ninety-six confirmed MPS cases were identified out of 132 suspected cases.
- The crude incidence rate for all MPS types was 2.3 per 100,000 live births.
- Prevalence rates for MPS I, III, and IV were 0.63, 0.7, and 0.45 per 100,000 live births, respectively. MPS VI incidence was higher than in European populations.
Conclusions:
- The actual frequency of MPS in Tunisia is likely higher than reported.
- High consanguinity rates (83%) in affected families suggest a genetic component.
- Further research is needed to fully understand the epidemiology of MPS in Tunisia.
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