סוף סוף טפול יעיל למחלה גנטית נדירה וקטלנית בשם אנגיואדמה תורשתית

אחד המאפיינים של דלקת היא נפיחות באיזור של הריקמה הדלקתית. הנפיחות נגרמת על ידי זליגה של נוזלים מכלי הדם לתוך האיזור המודלק. במצבי דלקת קבוצת חלבונים בשם ברדיקינינים ״פותחים את השערים״ שנמצאים בין התאים שמצפים את כלי הדם שלנו ומעודדים את זליגת הנוזלים לאיזור הדלקתי. רמת הברדיקינינים בדם נשלטת בין השאר על ידי חלבון שנקרא C1-INH, (או בשמו המלא C1 esterase inhibitor ).  C1-INH מונע את שחרור הברדיקינינים לדם בעזרת הגנה על חלבון אחר בשם  קליקראין. לסיכום, החלבון C1-INH מגן על קליקראין ועל ידי כך משחק תפקיד מרכזי בשחרור הברדיקינינים ובשליטה על זליגת נוזלים מכלי הדם לרקמות.

אנגיואדמה תורשתית היא מחלה נדירה וקטלנית (המופיעה בתדירות שבין 1:10,000 לבין 1:50,000 אנשים) ונגרמת על ידי מוטציה בגן האחראי ליצור חלבון ה C1-INH. אנשים הנושאים את המוטציה סובלים מהתקפים פתאומיים של זליגה לא מרוסנת של נוזלים לרקמות אחרי טראומה לרקמות, טיפולי שיניים, ניתוחים, זיהומים על ידי וירוסים ובקרב נשים בזמן המחזור. כתוצאה מזליגת הנוזלים נוצרת בצקת באברים חיוניים כמו במערכת העכול, בלוע ובדרכי הנשימה ובין 15-30% מהסובלים מהמחלה נפטרים כתוצאה מהתקף חנק פתאומי.

לפני מספר ימים התפרסם בעיתון New England Journal of Medicine מחקר המראה סוף סוף טיפול יעיל למחלה הנדירה והקטלנית הזאת. המחקר מראה כי הזרקה אחת לשבועיים של של נוגדנים, שבדומה ל C1-INH, מגנים על החלבון קליקראין  (ונקראים בשם המסחרי Lanadelumab) מצמצמת במידה ניכרת את התכיפות והחומרה של ההתקפים. נותר לבדוק מה תהיה השפעת הנוגדנים בטיפולים לטווח ארוך (לצפיה בסירטון המאייר את פעולת הנוגדנים לחצו כאן).

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