Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq
Background and objectives:The lysosomal lipid storage diseases are diverse disorders each due to an inherited deficiency of a lysosomal hydrolase enzyme leading to the intralysosomal accumulation of the enzyme’s particular substrate; each catabolic step, with the exception of the catabolism of lact...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Kurdistan Higher Council Of Medical Specialties
2023-04-01
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| Series: | Advanced Medical Journal |
| Subjects: | |
| Online Access: | https://amj.khcms.edu.krd/index.php/main/article/view/177 |
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| Summary: | Background and objectives:The lysosomal lipid storage diseases are diverse disorders each due to an inherited deficiency of a lysosomal hydrolase enzyme leading to the intralysosomal accumulation of the enzyme’s particular substrate; each catabolic step, with the exception of the catabolism of lactosylceramide, has a genetically determined metabolic defect and a resultant disease. The objective of this study was to have a better review of these diseases’ burden in the region.
Methods:A data of 37 patients were collected from 2013 to 2017 in the cities of the region, namely (Sulaimany, Erbil, Duhok, and Kirkuk) retrospectively through establishing a questionnaire distributed to the families of patients in whom the disease was established, and diagnosis was settled, and treatment already initiated to the patients.
Results: Gaucher and Mucopolysaccharidosis were equally the commonest (17 patients, 45.9%), lysosomal storage diseases were found to be more common in males (59.4%), and more in Kurdish descendants (75.7%). most patients were from Duhok city (43.2%). Consanguinity was positive in (83.8%) of patient’s parents. Twenty-four patients (64.9%) of overall lysosomal storage disease were receiving enzyme replacement therapy. Among patients receiving treatment; 20 (83.3%) had showed improvement in their condition, compared to none 0% of patients who did not receive treatment. abdominal distention was the most common first presenting complaint in lysosomal storage diseases (10 patients, 27%).
Conclusions:Lysosomal storage diseases are more common in consanguine marriage and will respond well to enzyme replacement therapy if regularly provided, it will decrease mortality and morbidity due to the disease.
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| ISSN: | 2958-8979 2957-3580 |