بررسی رابطه موتاسیونهای ژنتیکی با یافته های اسپیرومتری در بیماران مبتلا به کیستیک فیبروز مراجعه کننده به کلینیک مرکز طبی کودکان در سال 1395


۱۲ مهر ۱۳۹۶

بیماری CF کشنده‌ترین بیماری اتوزومال مغلوب درجهان است. تا کنون بیش از 1500 جهش ژنی برای این بیماری شناخته شده است. تا کنون یک ارتباط واضح بین ژنوتیپ و میزان درگیری ریوی در این بیماری شناخته نشده است. این مطالعه به منظور یافتن ارتباط بین درگیری ریوی و ژنوتیپ این بیماران طرح ریزی شده است.

روش کار:

یک مطالعه مقطعی است که در بیماران CF که بیماری آن‌ها توسط در تست عرق مثبت همراه با علائم کلینیکی تایید شده است، مورد بررسی از لحاظ ژنتیکی قرار می‌گیرند. بیماران فاقد ژن CFTR در سلول اپیتیلال در گروه I، II، III و بیماران دارای ژن CFTR و با عملکرد کاهش یافته‌ در گروه IV و V قرار می‌گیرند. یافته‌های اسپیرومتری که بیانگر میزان عملکرد ریوی این بیماران است در مقایسه با کلاس جهش ژنی آن‌ها آنالیز شده است.

نتایج:

هشتاد بیمار در این مطالعه وارد شده‌اند. بیماران دارای ژنوتیپ کلاس I، II، III به صورت واضحی یافته‌های اسپیرومتری (FEV1, FVC) پایین‌تری (Pvalue<0.05) در مقایسه با کلاس IV و V داشتند.

نتیجه‌گیری:

 این مطالعه نشان داد که بیماران با موتاسیون I و II و III در مقایسه با موتاسیون IV و V پروگنوز ریوی بدتری دارند که بیانگر آن است که درمانهای حمایتی ریوی باید با شدت بیشتر و از سن پایین‌تر برای آن‌ها شروع شود.

كليد واژه ها : بیماری CF؛ ژنوتیپ؛ اسپیرومتری؛ عملکرد ریوی

مشخصات دانشجو:

نام:  زهرا روشن ضمیر            رشته تحصيلي:  پزشکی         مقطع: دستیار فوق تخصصی ریه کودکان

گروه آموزشي : کودکان           پست الكترونيك دانشجو: z.roshanzamir@yahoo.com

اساتيد راهنما و داور:

استاد راهنما: دکتر محمد رضا مدرسی    اساتيد مشاور: دکتر صفورا نوایی، دکتر محمد تقی آشتیانی، دکتر علی اصغر آقامحمدی

اساتيد داور: دکتر فرزانه معتمد، دکتر روح‌الله شیرزادی

زمان دفاع :

   روز : شنبه          تاريخ: 27خرداد 1396              ساعت: 11:00

مكان دفاع به آدرس: دفتر گروه اطفال، بیمارستان مرکز طبی

اطلاعات به زبان انگليسي

Title: Relationship between genotype mutation and spirometric findings in cystic fibrosis patients that refer to clinic in children medical center during 2016 year

Abstract:

Introduction: Cystic fibrosis (CF) disease is the most lethal autosomal recessive disease in the world. More than 1500 mutation have been identified for this disease. To date, a clear relationship has not been established between genotype and lung damages. This study was designed for research of genotype and pulmonary damage in cystic fibrosis patients.

Methods: This is a cross-sectional study. In children (age>=6 years) who have been diagnosed cystic fibrosis with 2 positive sweet chloride test and clinical presentation, genotype mutation in this patients was survived. Patients were classified according to functional effects of classes of CFTR mutation in two graphs. In one group patients with class I, II, III (that have no function of CFTR) and patients with class IV, V in one group (that have function of CFTR but with low and abnormal function). Pulmonary function in CF was followed with spirometry. Thus spirometry was done for these patients.

Results: Eighty patients were included in the study. Patients with genotype I, II, III had significantly lower current spirometric value in FEV1 and FVC (p<0.05) than patients with genotype IV, V.

Conclusion: The findings of this study was patients in class I, II, III mutation has had worse pulmonary function than class IV, V mutations. Thus supportive pulmonary treatment should be started in early ages with more intensity.

Keywords: cystic fibrosis, genotype, spirometry, pulmonary function

 

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منبع: معاونت پژوهشي دانشکده پزشکي