تشخیص و درمان موکوپلی ساکاریدوز

مجله تفریحی سرگرمی دخترونه

تشخیص و درمان موکوپلی ساکاریدوز

 موکوپلی ساکاریدوز به علت فقدان یا کمبود آنزیم های لیزوزومال ایجاد می شوند

 

موکوپلی ساکاریدوز (MPS disease)

موکوپلی ساکاریدوز که به اختصار MPS نامیده می شوند بیماری ارثی که به دنبال جهش در ژن آنزیم های مربوط به تجزیه موکوپلی ساکاریدها می باشد که بر اساس الگوی وراثت، نوع آنزیم درگیر و شدت علائم به ۷ تیپ مختلف تقسیم می شود.

 

علت موکوپلی ساکاریدوز

به علت فقدان یا کمبود آنزیم های لیزوزومال ایجاد می شوند. این آنزیم ها که به صورت intralysosomal عمل می کنند باعث تبدیل موادشیمیایی به نام گلیکوز آمینوگلیکان ها (Glycosaminoglycans)  به متابولیت های بعدی می شوند.

 

مواد شیمیایی نام برده زنجیره های بلندی از کربوهیدرات را تشکیل می دهند که حاوی مواد شیمیایی مختلفی هستند که این مواد عبارتند از: قندهای آمینه، قندهای خنثی، اسیدهای اورونیک (Uronic Acids- neutral sugars-amino). این مواد معمولاً به پروتئین ها اتصال یافته و از این ترکیب، پروتئوگلیکان ها بوجود می آیند که این مواد شیمیایی اخیر در ساختمان بافت هم بند و غشاء و هسته و مستوکندری های سلول بکار می روند.

 

بنابراین کمبود آنزیمهای لیزوزومی باعث تجمع ایم مواد شییمیایی در نسوج مختلف بدن و لیزوزومهای سلول ها شده و باعث اتساع لیزوزومها، اختلال شدید در اعمال حیاتی سلول ها و نسوج مختلف بدن می شود. مهمترین این اختلالات در نسوج استخوانی، قلب و دریچه های قلبی- عروقی، چشم و … ایجاد می شود.

 

موکوپلی ساکاریدوز به گروهی از بیماری های ژنتیکی، متابولیکی و نادر گفته می شود که در ایران به دلیل شیوع ازدواج های فامیلی نسبت به کشورهای پیشرفته دنیا شایع تر است. شیوع بیماری ۱ به ۲۵هزار تا ۱ به ۵۰ هزار می باشد. تاکنون ۱۴ نوع از این بیماری ها گزارش شده اند. 

۱٫ (Hurler MPS)
۲٫ (Hunter  MPS)
۳٫ (Sanfillipo MPS)
۴٫ (Morquio MPS)
۵٫ (Maroteaux-Lamy MPS)
۶٫  (Sly MPS)
۷٫ (Scheie MPS)

 

تیپ ۱ یا سندرم (Hurler) با الگوی وراثت اتوزومال مغلوب شدیدترین فرم و خفیف ترین فرم آن Scheie می باشد.

سندرم (Hurler) که به دنبال نقص در تولید آنزیم آلفا ایدیورونیداز به وجود می آید شایع ترین فرم دیده شده در کودکان بین ۸-۳ سال می باشد، متوسط عمر این کودکان ۱۰ سال می باشد. نقص در آنزیم مذکور منجر به افزایش سطح گلیکوز آمینو گلیکان ها، GAG  در خون و تجمع آن در اعضای مختلف بدن می شود.

 

موکوپلی ساکاریدوز به گروهی از بیماری های ژنتیکی، متابولیکی و نادر گفته می شود 

  

علائم و نشانه های موکوپلی ساکاریدوز

علائم موکوپلی ساکاریدوز(۶-۰ ماهگی)

– رشد بیش از اندازه سر

– مشکلات شنوایی

علائم موکوپلی ساکاریدوز(۶ ماهگی تا ۱۲ سالگی)
• ناهنجاری صورت
• ناهنجاری های اسکلتی
• درد مفاصل
• هپاتواسپلنومگالی
• تاخیر رشد و توقف رشد جسمی

علائم موکوپلی ساکاریدوز(بعد از ۱۲ سالگی)

مشکلات قلبی عروقی.

رشد بیش از اندازه سر یکی از علائم موکوپلی ساکاریدوز در ۶-۰ ماهگی است   

 

تشخیص (MPS disease)
ο  تست ادرار برای بررسی مقادیر افزایش یافته GAG

ο استفاده از لکوسیتها یا سرم و یا پلاسما برای بررسی مقادیر کاهش یافته آنزیم آلفا ایدیورونیداز

ο تست آمنیوسنتز قبل از تولد در زمان جنینی در هفته ۱۷-۱۴ بارداری در مادرانی که فرزند قبلی آنها مبتلا به این بیماری بوده است.

علائم موکوپلی ساکاریدوز

 

درمان موکوپلی ساکاریدوز
♦ Enzyme Replacement Therapy : تزریق آنزیم به صورت مرتب هر ۱ یا ۲ هفته ۱ بار به منظور جبران کمبود آنزیم که البته در این درمان به دلیل عدم عبور آنزیم از قبل سنتز شده از سد خونی-مغزی علائم مغزی قابل  کنترل نیست.

♦ پیوند مغز استخوان (BMT) و یا خون بند ناف (UCBT): این روش درمانی تنها در بیماران MPS1 کاربرد دارد و قادر است به جز علائم اسکلتی و بینایی سایر علائم را تا حد زیادی بهبود بخشد در این روش سلولهای پیوندی قادر به ورود به مغز و ساخت آنزیم در سیستم عصبی مرکزی نیز بوده و علائم نورولوژیک را تا حد زیادی تخفیف می دهد. این روش درمانی روشی پر ریسک و میزان شکست آن به دلیل عارضه Graft Versus Host Disease بالا می باشد.

♦  ژن تراپی: در این روش از وکتورهای ویروسی یا غیر ویروسی برای انتقال ژن سالم به بیمار و بیان آنزیم در بدن استفاده می شود. این روش در حال حاضر روشی تحقیقاتی بوده که روی گربه و سگ آزمایش شده و با موفقیت همراه بوده است.

 گردآوری: بخش سلامت دخترونه

منابع:genetical.ir

مجلهتفریحیسرگرمیدخترونه

۱۷۸ دیدگاه
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