Sakamakon Shereshevsky-Turner - menene chances ga rayuwa ta al'ada?

Irin wannan cututtuka kamar yadda ciwon Shereshevsky-Turner ya faru ne a cikin 'yan mata da kuma tasowa a farkon shekaru uku na ciki. Ana haifar da shi ne daga anomaly na chromosomes, lokacin da aka kaddamar da layin jima'i. Wannan ganewar asali yana da wuya, amma ba za ku iya kawar da shi ba.

Sakamakon Shereshevsky-Turner - menene?

Masana kimiyya basu rigaya gano dangantakar dake tsakanin lafiyar iyayensu da kuma ci gaba da rashin lafiyar yaron ba, irin su cutar da Turner. Har ila yau an kira shi Ulrich's syndrome. Yanayin mahaifiyar da ake sa ran yana rikitarwa ta hanyar barazanar ɓacewa (suna faruwa a farkon ko uku na uku), mummunan cututtuka, kuma haihuwa ba sawa ba ne kuma suna da pathologies.

Yaran jariran gaba ɗaya suna da kyau, amma suna da hauka. Domin ciwo na Shereshevsky-Turner yana cikin:

Shereshevsky-Turner na ciwo - karyotype

An kafa jikin mutum a cikin mahaifa daga cikin tantanin halitta, wanda ake kira zygote. An kafa shi ne bayan fuska na 2 kayan aiki dauke da bayanan kwayoyin daga iyayensu. Wadannan kwayoyin sun ƙayyade a nan gaba yanayin da lafiyar jariri. Karyotype na al'ada zai iya samun saitin chromosomes, kamar 46XX ko 46XU. Idan tsarin na gametogenesis yana damuwa, to, amfrayo yana da raguwa a ci gaba.

Karyotype na marasa lafiya tare da ciwo na Shereshevsky-Turner mai tsanani ne a yayin da X chromosome ba ya nan ko kuma damuwa. Wannan karkatawa yana tare da halayyar halayyar canje-canje a cikin jiki, kuma yana nuna kansa a cikin rashin ci gaba na ɓangarorin haihuwa na tayin. Ba su ƙunshi wani ɓangare na gonad ba, akwai nauyin 'yan ovaries da kuma jigon jini.

Shereshevsky-Turner na ciwo - yawan sauyin yanayi

Wannan cutar ta fara bayyana a shekarar 1925. Harshen Shereshevsky-Turner yana faruwa ne a cikin yarinyar mata uku. Yanzu yawancin yawan wannan cutar ba a sani ba ne saboda ƙaddamarwa na rashin ciki a ciki daban-daban. A cikin lokuta masu wuya, irin wannan ganewar an samo wa yara.

Ciwo na Shereshevsky-Turner na ciwo - asali na

Amsar tambayar game da abin da ke haifar da ciwo na Shereshevsky-Turner, dole ne a ce game da anomaly na jima'i X chromosome. Idan an canza, to, a jikin jikin amfrayo yana faruwa:

Irin waɗannan cututtuka sun faru a cikin kashi 20% na lokuta idan akwai mosaicism, misali, 45, X0 / 46, XY ko 45, X0 / 46, XX. Ana iya bayyana ma'anar cutar a cikin maza ta hanyar fassarar. Rashin haɓaka ƙuƙwalwar Shereshevsky-Turner ba shi da alaka da shekarun da ke nan gaba. Zai iya faruwa:

Ciwon daji Shereshevsky-Turner - bayyanar cututtuka

Kwayar na iya bayyana duka a waje da kuma aiki na gabobin ciki. Lokacin da aka gano shi azaman Shereshevsky-Turner ciwo, alamun bayyanar zai zama kamar haka:

A cikin jarirai, ƙafar hannu, hannayensu da fatar jiki a wuyansa za su iya ƙara, kuma gashi ba ya girma. Kasusuwan jaw suna ƙananan, sama yana da tsawo. A cikin zuciya zuciya mai haɗuwa zai yiwu, yana da sassauci, kuma mutunci na septum interventricular yana damuwa. Ƙasar da ke cikin irin wannan cututtuka kamar rashin ciwon Shereshevsky-Turner ba zai sha wahala ba, amma dai hankali da tsinkaye sun rabu.

Kullun suna ko da yaushe, kuma al'amuran suna ci gaba da ɓarna. Gland suna maye gurbinsu da nau'in haɗin gwiwar da ba su samar da kwayoyin jikinsu kuma ba cikakke ba. 'Yan mata ba su kara girma ba, babu haila, amintacce na farko ya faru, don haka haihuwa bai kasance ba. Akwai nau'o'i 3 na dysgenesis: tsabta, ƙura da gauraye. Sun bambanta a cikin bayyanar asibiti.

Ciwo ta Shereshevsky-Turner - ganewar asali

Lokacin da tayin nan gaba ba ta da X-chromosome, sa'an nan kuma a kammala aikin tsawace jiki, cutar ta Shereshevsky-Turner ta bayyana ta hanyar neonatologist a asibitin haihuwa ko kuma dan jariri. Idan manyan alamun cutar ba su kasance ba, to, lura cewa zai iya kasancewa balaga. Masu kwarewa sun tsara gwaje-gwajen don:

A lokacin ganewar asalin Shereshevsky-Turner ciwon daji ya kamata ya ziyarci masanin ilimin lissafi, nephrologist, likitan kwakwalwa na zuciya, likitan zuciya, endocrinologist, genetics, lymphologist, gynecologist / andrologist, kuma otolaryngologist. Don gano maganganu marasa lafiya likitoci sun sanya:

Ciwon Shereshevsky-Turner - jiyya

Tare da irin wannan ganewar asali, kamar ciwon Turner, magani ya dogara ne da jihohin Y-chromosome a cikin karyotype. Idan an samo su, ovaries sun cire yarinyar. Ana gudanar da aikin a matashi har zuwa lokacin cika shekaru 20. Babban burin shi shine hana hana mummunan ciwon sukari. Idan babu wannan jinsin, an ba da ka'idar hormone.

Ana gudanar da shi a shekaru 16-18 kuma babban manufar magani shine:

Marasa lafiya tare da ciwo na Shereshevsky-Turner suna yin shawara a hankali, inda aka taimaka musu su daidaita a cikin al'umma da kuma inganta rayuwar rayuwa. Da wannan cutar, mafi yawan mata sun kasance marasa lafiya. Maganin ya fi dacewa da:

Rayuwa tare da ciwo na Shereshevsky-Turner

Idan an gano cutar a farkon matakan kuma ana gudanar da magani a lokaci, to, za a ci gaba da bunkasa yaro. Maganin zamani ya ba 'yan mata damar samun' ya'yansu, misali IVF. Rayuwa tare da ciwo na Turner na da kyakkyawar tsinkaya. Magunguna ba su shan wahala daga rashin hauka, amma suna aiki da su ta jiki da kuma matsalolin neuropsychic.

Mutane tare da Ciwo na Turner

Wani nau'i mai sauki na cutar shine cututtukan Shereshevsky-Turner mosaic. A wannan yanayin, wasu kwayoyin mace suna da X X-chromosome, da sauran - biyu. Yara da wannan ganewar asali ba su da mummunar lalacewa, da kuma ilimin jima'i da ke haɗuwa da haila suna ba da sananne ba, don haka akwai damar yin ciki a nan gaba. Halin bayyanar yana samuwa, amma ba mai haske ba kamar yadda yake a cikin tsaunuka.

Shereshevsky-Turner ciwo - rai mai rai

Idan kuna da sha'awar tambayar abin da Shereshevsky-Turner ya kamu da shi, to dole ne a ce cewa ba zai shafi rayuwar rai ba. Wani banda zai iya kasancewa cututtukan zuciya da cututtuka masu kama da juna. Tare da magani mai dacewa da dacewa, marasa lafiya suna jagorancin rayuwa ta al'ada, suna yin jima'i da ma haifar da iyalai.