21 mart dünya daun sindromu günüdür; Daun sindromu nədir?

97

Normal halda insanların bədən hüceyrələrinin hər birində 46, cinsi hüceyrələrində isə 23 xromosom olur. Cinsi hüceyrələr birləşərkən yeni orqanizmin 46 sayda olmaqla xromosom dəstini əmələ gətirirlər.

Bəzi hallarda yeni orqanizmin xromosom dəstinin sayında dəyişiklik (normal saya nisbətən azalma, artma, xromosomların fraqmentlərinin itirilməsi və s.) baş verir. Statistik məlumatlara əsasən xromosom saylarının anomaliyası olan belə ruşeyimlərin 60%-i doğuşa qədər məhv olurlar. Belə xromosom dəsti ilə doğulanlarda isə əksər hallarda müxtəlif inkişaf qüsurları, zehni zəiflik və s. çatışmazlıqlara təsadüf edilir.

 

Xromosom saylarında olan patoloji dəyişikliklərin (mutasiya) əmələ gəlməsinin səbəbləri müxtəlif ola bilər: valideynlərin yaşı, müxtəlif xəstəlikləri, ətraf muhitin zərərli faktorları (şüalanma, kimyəvi intoksikasiyalar (zəhərlənmələr)) və s.

 

Xromosom saylarında olan patoloji dəyişikliklər nəticəsində əmələ gələn xəstəliklərdən ən çox təsadüf edilənlərdən biri Daun xəstəliyidir (və ya sindromu). Belə xəstələrdə xromosom dəstinin sayı 46 deyil, 47 olur (artıq olan 1 qeyri-cinsi xromosomdur). Bu xromosom dəsti ilə doğulanların psixi inkişafı kəskin dərəcədə zəif olur.

 

Doğulan uşaqlarda bu xəstəlik özünü bir çox əlamətlərlə biruzə verir: nəzərəçarpan əzələ zəifliyi, çəpgözlük, yastısifətlilik, ağızın yarımaçıq vəziyyətdə olması, usağın bir qədər böyümüş dilini tez-tez bayıra çıxarması və içəri çəkməsi, əllərində dərin köndələn büküşün olması və s. Uşağa son dəqiq diaqnozun qoyulması isə qanın xüsusi genetik müayinəsindən sonra mümkün olur.

 

Daun sindromlu uşaqların oturması, gəzməsi, danışması daha gec bir zamanda baş verir. Bir çox hallarda belə uşaqlarda anadangəlmə ürək, böyrək qüsurları, immunitetin zəif olması və s. patoloji hallar da təsadüf edilir. Bu uşaqların hamısı zehni inkişafdan da geri qalırlar. Ağır patologiyalı uşaqlar kiçik yaşlarında vəfat edirlər. Ağır patologiyaları olmayan Daun sindromlu uşaqlar isə daha çox (adi adamlar yaşadığı qədər) ömür sürə bilirlər. Yaşa dolduqca belə uşaqlar bu sindromlu digər uşaqlarla müqayisədə bir birinə daha çox oxşayırlar (yastı sifət, çəpləşmiş dar gözlər). Psixi inkişafda ləngimələri səbəbindən onlar oxumaqda çətinlik çəkir, əksər hallarda isə zehni çatışmazlığı olan uşaqlar üçün təşkil olunan xüsusi məktəblərdə təhsil almalı olurlar. Müəyyən vaxt keçdikdən sonra onların zehni inkişafda ləngimələri davam etsə də, belə uşaqlar özlərinə xidmət üzrə sadə vərdişləri müvəffəqiyyətlə mənimsəyə bilirlər (bəzi ev işləri, geyinmək, soyunmaq, ayaqyoluna getmək və s.).

 

Elm adamları belə bir qənaətə gəlmişlər ki, ananın yaşının çox olması Daun sindromlu uşaqların doğulması ehtimalını artıran səbəblərdən biridir. Belə ki, yaşı 35-dən artıq olan qadınlarda körpələrin bu sindromla doğulma ehtimalı 10 dəfə, 40-dan artıq olan qadınlarda isə 25 dəfə artmış olur.

 

Məhz buna görə yuxarıda qeyd etdiyimiz kimi, yaşı bir qədər çox olan qadınlar ana olmaq arzusunda olduqları halda, mütləq həkim-genetikin baxışından keçməli və tələb olunduğu hallarda isə müvafiq genetik laborator müayinələrindən keçməlidirlər. Belə qadınlardan hamiləlik dövründə də həkim-genetikin məsləhətinə uyğun olaraq dölyanı mayenin, cift xovlarının, həmçinin dölün göbəyindən götürülmüş qanın genetik laborator müayinələrinin aparılması tələb oluna bilər. Döl qanının genetik laborator müayinəsi (hamiləliyin 23-25 həftəliyində) doğulacaq körpədə ağır patologiyaların olmasını 100% istisna etməyə imkan verir. Genetik laborator müayinələrin aparılması üçün USM (ultrasəs müayinəsi) nəzarəti altında aparılan bu tibbi xidmətlərin hamiləliyin gedişinə mənfi təsir edə bilməsi ehtimalı isə çox aşağı hesab olunur.

Redaktor: Nadir İsmayılov

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