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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Kurdistan Higher Council Of Medical Specialties
2023-04-01
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| Series: | Advanced Medical Journal |
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| Online Access: | https://amj.khcms.edu.krd/index.php/main/article/view/177 |
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| author | Chenar Omer Ali Al-Jaf Bakir Rahim Khalid Hama Salih Jamal Ahmad Rasheed Adnan Mohammed Hasan |
| author_facet | Chenar Omer Ali Al-Jaf Bakir Rahim Khalid Hama Salih Jamal Ahmad Rasheed Adnan Mohammed Hasan |
| author_sort | Chenar Omer Ali Al-Jaf |
| collection | DOAJ |
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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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| format | Article |
| id | doaj-art-d2488adc5d3e4a17937998c914c44ec4 |
| institution | DOAJ |
| issn | 2958-8979 2957-3580 |
| language | English |
| publishDate | 2023-04-01 |
| publisher | Kurdistan Higher Council Of Medical Specialties |
| record_format | Article |
| series | Advanced Medical Journal |
| spelling | doaj-art-d2488adc5d3e4a17937998c914c44ec42025-08-20T03:18:48ZengKurdistan Higher Council Of Medical SpecialtiesAdvanced Medical Journal2958-89792957-35802023-04-014210.56056/amj.2018.68178Overview of Lysosomal Storage Diseases in Kurdistan Region/ IraqChenar Omer Ali Al-Jaf0Bakir Rahim1Khalid Hama Salih2Jamal Ahmad Rasheed3Adnan Mohammed Hasan4KBMS-Pediatrics – Trainee, Sulaimany Pediatric Teaching Hospital. FIBMS- Pediatrics, College of Medicine –University of SulaimanyFIBMS-Pediatrics, College of Medicine –University of SulaimanyAssist. Professor of Pediatrics, College of Medicine –University of Sulaimany.Professor of Pediatrics, College of Medicine –University of Sulaimany 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. https://amj.khcms.edu.krd/index.php/main/article/view/177Gaucher diseaseKurdistan regionLysosomal storage diseases |
| spellingShingle | Chenar Omer Ali Al-Jaf Bakir Rahim Khalid Hama Salih Jamal Ahmad Rasheed Adnan Mohammed Hasan Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq Advanced Medical Journal Gaucher disease Kurdistan region Lysosomal storage diseases |
| title | Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq |
| title_full | Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq |
| title_fullStr | Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq |
| title_full_unstemmed | Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq |
| title_short | Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq |
| title_sort | overview of lysosomal storage diseases in kurdistan region iraq |
| topic | Gaucher disease Kurdistan region Lysosomal storage diseases |
| url | https://amj.khcms.edu.krd/index.php/main/article/view/177 |
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