Proteus syndrome

نویسنده : ریحانه دره گزنی شنبه 16 شهریور 1392 07:40 ب.ظ  •   

سندرم پروتئوس چیست؟ Proteus syndrome

==========================

سندرم‌پروتئوس‌حالتی هامارتوماتوز مادرزادی‌و نادراست كه ساختمانهای مختلف بدن رامبتلامی‌سازد. نامگذاری آن براساس نام پروتئوس، از اساطیریونانی‌است‌كه برای فرار از دستگیری قادر به ایجادتغییرشكل خود بود.
تظاهرات اصلی در این سندرم شامل ژیگانتیسم ناحیه‌ای، همی هیپرتروفی، انواعی از تغییرات زیرجلدی، آنومالیهای اسكلتی و خال‌های عروقی است. تنوع وسیعی از اختلالات دیگر نیز دیده می شود اما معیار بالینی خاصی تا بحال برا ی تشخیص معین نگردیده است. مواردیكه در گذشته بعنوان Elephant Man مطرح می‌شده، همین سندرم بوده است.

علت این سندرم ناشناخته مانده است، اما با توجه به موارد اسپورادیك و بر اساس نظریات موجود، ناشی از یك تغییر موزائیك بعلت موتاسیون است كه منجر به انواع بسیار متغیری از فنوتیپها می شود. موارد غیرموزائیسم این سندرم كشنده است. شیوع جنسی برابر است و در دوقلوهای یكسان، شیوع مشابه ندارد.
اساس تشخیص این سندرم، نماهای بالینی است.

هر اقدام درمانی محدود به موارد ناتوان‌كننده در بیماران است. لذا مشورت با جراحان پلاستیك، اورتوپدی، چشم پزشكان و فیزیوتراپیستها می‌تواند مؤثر باشد. متأسفانه علیرغم تلاشهای درمانی این اختلال می‌تواند منجر به درجاتی از عوارض روانی مثل وحشت از بدشكلی در بیمار شود و لذا مشورت پسیكولوژیك می‌تواند مفیدباشد.

جهش ژنتیکی در ژن : AKT1


What is Proteus syndrome?
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.

What genes are related to Proteus syndrome?
Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism.
The AKT1 gene helps regulate cell growth and division (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome. Studies suggest that an AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.
Photo: ‎سندرم پروتئوس چیست؟ Proteus syndrome

==========================

سندرم‌پروتئوس‌حالتی هامارتوماتوز مادرزادی‌و نادراست كه ساختمانهای مختلف بدن رامبتلامی‌سازد. نامگذاری آن براساس نام پروتئوس، از اساطیریونانی‌است‌كه برای فرار از دستگیری قادر به ایجادتغییرشكل خود بود.
تظاهرات اصلی در این سندرم شامل ژیگانتیسم ناحیه‌ای، همی هیپرتروفی، انواعی از تغییرات زیرجلدی، آنومالیهای اسكلتی و خال‌های عروقی است. تنوع وسیعی از اختلالات دیگر نیز دیده می شود اما معیار بالینی خاصی تا بحال برا ی تشخیص معین نگردیده است. مواردیكه در گذشته بعنوان Elephant Man مطرح می‌شده، همین سندرم بوده است. 

علت این سندرم ناشناخته مانده است، اما با توجه به موارد اسپورادیك و بر اساس نظریات موجود، ناشی از یك تغییر موزائیك بعلت موتاسیون است كه منجر به انواع بسیار متغیری از فنوتیپها می شود. موارد غیرموزائیسم این سندرم كشنده است. شیوع جنسی برابر است و در دوقلوهای یكسان، شیوع مشابه ندارد.
اساس تشخیص این سندرم، نماهای بالینی است.

هر اقدام درمانی محدود به موارد ناتوان‌كننده در بیماران است. لذا مشورت با جراحان پلاستیك، اورتوپدی، چشم پزشكان و فیزیوتراپیستها می‌تواند مؤثر باشد. متأسفانه علیرغم تلاشهای درمانی این اختلال می‌تواند منجر به درجاتی از عوارض روانی مثل وحشت از بدشكلی در بیمار شود و لذا مشورت پسیكولوژیك می‌تواند مفیدباشد.

جهش ژنتیکی در ژن : AKT1


What is Proteus syndrome?
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.

What genes are related to Proteus syndrome?
Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism.
The AKT1 gene helps regulate cell growth and division (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome. Studies suggest that an AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.‎


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