IHC study of muscular dystrophies diagnosed by muscle biopsy in Mofid and Toos hospitals (two referral centers) from 2009 to 2014

سال انتشار: 1396
محل انتشار: نوزدهمین همایش سالانه و دومین همایش بین المللی آسیب شناسی و طب آزمایشگاه
کد COI اختصاصی: ACPLMED19_038
زبان مقاله: انگلیسی
تعداد مشاهده: 511

نویسندگان

department of pathology,shahid beheshti medical sience university, tehran, iran

چکیده

Background and purpose : The muscular dystrophies are congenital musculoskeletal disorders that IHC and muscle biopsy are used to diagnose them. The purpose was to determine the IHC results of muscular dystrophies diagnosed by muscle biopsy in Mofid and Toos hospitals from 2009 to 2014. Methods: In this observational descriptive comparative study,636 consecutive muscular dystrophies diagnosed by muscle biopsy in Mofid and Toos hospitals from 2009 to 2014 were enrolled and the IHC results among them was determined and compared according to age and gender. Results: The results in this study demonstrated that 33.8% had normal IHC , 19.6% had dysferlinopathy, 17.2% had dystrophinopathy, 12.7 % had sarcoglycanopathy, 8.9% had no IHC studies, 6.4% had merosin loss and 1.1% were carrier of dystrophinopathy. 21% of patients with normal IHC results had lobulated fibers which are most probabely calpainopathy. Inflammation was present in 2% of dystrophinopathies and 5% of dysferlinopathies , showing the importance of IHC studies in differentiating dystrophinopathies and specially dysferlinopathies associated with inflammation from polymiositis. Mean age of diagnosis was 18.3 with 13.1 standard deviation. The highest and lowest mean age of diagnosis were in dysferlinopathy group (age 26) and loss of merosin group (age 3), respectively.59.7% of patients were male and 40.3% were female. All cases of dystrophinopathy were male and all carrier of dystrophinopathy were female.In other groups gender distribution was almost equal, showing no statistically importance. Conclusion: Totally, according to the obtained results it may be concluded that IHC results are positive in about two third of cases with muscular dystrophies.

کلیدواژه ها

IHC, Muscular dystrophy, Muscle biopsy

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