این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Iranian Journal of Medical Sciences، جلد ۴۳، شماره ۲، صفحات ۲۱۸-۲۲۲
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
چکیده انگلیسی مقاله Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the acid alpha-glucosidase (GAA) gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme. To date, approximately 400 pathogenic mutations have been reported in the GAA gene. The aim of this study is to report a novel nonsense mutation in exon 4 of the GAA gene in an Iranian child suffering from IOPD. The patient was a female neonate with hypertrophic cardiomyopathy and a positive family history of IOPD. After definite diagnosis, enzyme-replacement therapy (ERT) was started for the patient, who was 2 months old. Now at the age of 20 months, she has had good growth and development and her echocardiographic parameters are within the normal range. This report shows that IOPD patients with this mutation can be treated with ERT successfully.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله Hossein Moravej |
Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; and Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

Anis Amirhakimi |
Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

Alireza Showraki |
School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

Hamid Amoozgar |
Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

Zahra Hadipour |
Department of Medical Genetics, Sarem Cell Research Center and Hospital, Tehran, Iran

Ghasem Nikfar |
Department of Pediatrics, Fasa University of Medical sciences, Fasa, Iran

نشانی اینترنتی http://ijms.sums.ac.ir/article_40518_0ea089ce08791952f534e3214b2cb8ea.pdf
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/147/article-147-1611489.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات