Shereshevsky Turner ciwo - Wannan cuta ce ta chromosomal, wanda aka bayyana a cikin abubuwan da ba a saba gani ba na ci gaban jiki, a cikin jima'i jarirai da ɗan gajeren tsayi. Dalilin wannan cuta na kwayoyin halitta shine monosomy, wato, mara lafiya yana da jima'i guda X chromosome.
Ciwon yana faruwa ne sakamakon dysgenesis na farko na gonadal, wanda ke faruwa a sakamakon rashin daidaituwa na chromosome na jima'i. A cewar kididdigar, 3000 jarirai, 1 yaro za a haife shi tare da Shereshevsky-Turner ciwo. Masu binciken sun lura cewa ba a san ainihin adadin lokuta na wannan cuta ba, tun da rashin zubar da ciki ba tare da bata lokaci ba yakan faru a cikin mata a farkon matakan ciki saboda wannan cuta ta kwayoyin halitta. Mafi sau da yawa, ana gano cutar a cikin yara mata. Da wuya, ana samun ciwon a jarirai maza.
Synonyms na Shereshevsky-Turner ciwo ne sharuddan "Ulrich-Turner ciwo", "Shereshevsky ciwo", "Turner ciwo". Duk waɗannan masanan kimiyya sun ba da gudummawa ga nazarin wannan ilimin.
Alamomin cutar Turner
Alamomin cutar Turner sun fara bayyana tun daga haihuwa. Hoton asibiti na cutar kamar haka:
Ana yawan haihuwar jarirai da wuri.
Idan an haifi yaro akan lokaci, to za a yi la'akari da nauyin jikinsa da tsayinsa idan aka kwatanta da matsakaicin dabi'u. Irin waɗannan yara suna auna daga 2,5 kg zuwa 2,8 kg, kuma tsawon jikinsu bai wuce 42-48 cm ba.
An gajarta wuyan jariri, akwai folds a gefensa. A magani, ana kiran wannan yanayin pterygium ciwo.
Sau da yawa a lokacin jariri, an gano lahani na zuciya na yanayin haihuwa, lymphostasis. Ƙafafu da ƙafafu, da kuma hannayen jariri, sun kumbura.
Tsarin tsotsa a cikin yaro yana damuwa, akwai hali na yawan regurgitation tare da marmaro. Akwai rashin natsuwa.
Tare da sauyawa daga jariri zuwa farkon yara, akwai raguwa ba kawai a cikin jiki ba har ma a cikin ci gaban tunani. Magana, hankali, ƙwaƙwalwa suna wahala.
Yaron yana da saurin kamuwa da cututtukan otitis na yau da kullun saboda abin da ya haifar da asarar ji. Kafofin watsa labarai na otitis yawanci suna faruwa tsakanin shekaru 6 zuwa 35. A lokacin balagagge, mata suna da wuyar samun ci gaba da asarar ji na ji, wanda ke haifar da asarar ji bayan shekaru XNUMX da tsufa.
Ta hanyar balaga, tsayin yara bai wuce 145 cm ba.
Bayyanar matashi yana da sifofin halayen wannan cuta: wuyansa gajere ne, an rufe shi da folds pterygoid, yanayin fuska ba su da fa'ida, sluggish, babu wrinkles a goshin, ƙananan lebe yana kauri da sags (fuskar myopath. ko fuskar sphinx). Ba a yi la'akari da layin gashi ba, auricles sun lalace, ƙirji yana da faɗi, akwai anomaly na kwanyar tare da rashin haɓaka na ƙananan muƙamuƙi.
Yawan cin zarafi na ƙasusuwa da haɗin gwiwa. Yana yiwuwa a gano dysplasia na hip da kuma karkatar da haɗin gwiwar gwiwar hannu. Sau da yawa, curvature na kasusuwa na ƙananan ƙafar ƙafa, raguwa na 4th da 5th yatsunsu a kan hannaye, da scoliosis an gano su.
Rashin isasshen isrogen yana haifar da ci gaban osteoporosis, wanda, bi da bi, yakan haifar da karaya akai-akai.
Babban gothic sama yana ba da gudummawa ga canjin murya, yana sa sautin sauti ya fi girma. Ana iya samun ci gaban haƙora mara kyau, wanda ke buƙatar gyaran orthodontic.
Yayin da majiyyaci ke girma, edema na lymph yana ɓacewa, amma zai iya faruwa a lokacin motsa jiki.
Ƙwararrun basirar mutanen da ke fama da ciwo na Shershevsky-Turner ba su da lahani, oligophrenia ba shi da wuya a gano shi.
Na dabam, ya kamata a lura da cin zarafi na aiki na gabobin daban-daban da kuma tsarin gabobin halayen cututtukan Turner:
A bangaren tsarin haihuwa, babban alamar cutar shine hypogonadism na farko (ko jima'i jarirai). 100% na mata suna fama da wannan. A lokaci guda kuma, babu follicles a cikin ovaries, kuma su da kansu suna wakilta da igiyoyin fibrous nama. Mahaifa ba shi da haɓakawa, an rage shi a girman dangane da shekaru da al'ada na ilimin lissafi. Labia majora suna da siffa scrotum, kuma ƙananan labia, hymen da ƙwanƙwara ba su cika girma ba.
A cikin lokacin balaga, 'yan mata suna da ƙarancin haɓakar glandar mammary tare da jujjuyawar nonuwa, gashi yana da kankanin. Lokuta suna zuwa a makara ko ba a farawa kwata-kwata. Rashin haihuwa shine mafi yawan lokuta alama ce ta ciwon Turner, duk da haka, tare da wasu bambance-bambancen sake tsara kwayoyin halitta, farawa da ɗaukar ciki ya kasance mai yiwuwa.
Idan an gano cutar a cikin maza, to, a ɓangaren tsarin haihuwa suna da matsala a cikin samuwar ɗigon jini tare da hypoplasia ko cryptorchidism na biyu, anorchia, ƙananan ƙwayar testosterone a cikin jini.
A bangaren tsarin zuciya da jijiyoyin jini, sau da yawa akwai lahani na ventricular septal, bude ductus arteriosus, aneurysm da coarctation na aorta, cututtukan zuciya na zuciya.
A ɓangaren tsarin urinary, ninka ƙashin ƙugu, stenosis na arteries na renal, kasancewar koda mai siffar dawakai, da wuri mara kyau na jijiyoyin koda yana yiwuwa.
Daga tsarin gani: strabismus, ptosis, makanta launi, myopia.
Matsalolin dermatological ba sabon abu ba ne, alal misali, nevi pigmented a cikin adadi mai yawa, alopecia, hypertrichosis, vitiligo.
A bangaren gastrointestinal tract, akwai haɗarin kamuwa da cutar kansar hanji.
Daga tsarin endocrine: Hashimoto's thyroiditis, hypothyroidism.
Cututtukan ƙwayar cuta sukan haifar da ci gaban nau'in ciwon sukari na XNUMX. Mata sukan zama masu kiba.
Abubuwan da ke haifar da cutar Turner Syndrome
Abubuwan da ke haifar da ciwo na Turner sun ta'allaka ne a cikin cututtukan kwayoyin halitta. Tushen su cin zarafi ne na lambobi a cikin X chromosome ko cin zarafi a cikin tsarin sa.
Ana iya haɗawa da rarrabuwa a cikin samuwar X chromosome a cikin ciwo na Turner tare da abubuwa masu zuwa:
A mafi yawancin lokuta, ana gano monosomy na X chromosome. Wannan yana nufin cewa majiyyaci ya rasa chromosome na jima'i na biyu. Ana gano irin wannan cin zarafi a cikin 60% na lokuta.
An gano cututtuka daban-daban na tsarin a cikin X chromosome a cikin kashi 20% na lokuta. Wannan na iya zama gogewa na dogon hannu ko gajere, fassarar chromosomal nau'in X/X, shafewa ta ƙarshe a hannayen biyu na X chromosome tare da bayyanar chromosome na zobe, da sauransu.
Wani 20% na lokuta na ci gaban Shereshevsky-Turner ciwo faruwa a mosaicism, wato, kasancewar a cikin jikin mutum kyallen takarda na genetically daban-daban Kwayoyin a daban-daban bambancin.
Idan pathology ya faru a cikin maza, to dalilin shine ko dai mosaicism ko canzawa.
A lokaci guda kuma, shekarun mace mai ciki ba zai shafi haɗarin haihuwar jariri tare da ciwo na Turner ba. Dukansu sauye-sauye na ƙididdige ƙididdigewa, ƙididdiga, da tsarin tsarin ƙwayoyin cuta a cikin chromosome na X suna faruwa ne sakamakon bambance-bambancen meiotic na chromosomes. A lokacin daukar ciki, mace tana fama da toxicosis, tana da babban haɗarin zubar da ciki da kuma haɗarin haihuwa da wuri.
Maganin ciwon Turner
Maganin ciwon Turner yana da nufin ƙarfafa haɓakar majiyyaci, don kunna samuwar alamun da ke ƙayyade jinsin mutum. Ga mata, likitoci suna ƙoƙari su daidaita yanayin haila kuma su cimma daidaito a nan gaba.
Tun yana ƙanana, farfesa yakan sauko zuwa shan hadaddun bitamin, ziyartar ofishin masseur, da yin aikin motsa jiki. Ya kamata yaron ya sami abinci mai kyau mai kyau.
Don haɓaka girma, ana ba da shawarar maganin hormonal tare da amfani da hormone Somatotropin. Ana gudanar da shi ta hanyar alluran subcutaneously kowace rana. Jiyya tare da Somatotropin ya kamata a gudanar har zuwa shekaru 15, har sai girman girma ya ragu zuwa 20 mm kowace shekara. Ba da magani a lokacin kwanta barci. Irin wannan maganin yana ba marasa lafiya da ciwon Turner damar girma zuwa 150-155 cm. Likitoci sun ba da shawarar hada maganin hormonal tare da jiyya ta amfani da steroids anabolic. Kulawa na yau da kullun daga likitan mata da endocrinologist yana da mahimmanci, tunda maganin hormone tare da tsawaita amfani na iya haifar da matsaloli daban-daban.
Maganin maye gurbin estrogen yana farawa daga lokacin da matashi ya kai shekaru 13. Wannan yana ba ku damar kwaikwayi al'adar balaga ta yarinya. Bayan shekara daya ko shekara daya da rabi, ana ba da shawarar a fara tsarin hawan keke na shan maganin hana haihuwa na isrogen-progesterone. Ana ba da shawarar maganin hormone ga mata har zuwa shekaru 50. Idan mutum ya kamu da cutar, to ana ba shi shawarar shan hormones na maza.
Lalacewar kwaskwarima, musamman, folds a wuyansa, an kawar da su tare da taimakon filastik filastik.
Hanyar IVF ta ba wa mata damar yin ciki ta hanyar dasa mata kwai mai taimako. Duk da haka, idan aƙalla an lura da ayyukan ovarian na ɗan gajeren lokaci, to yana yiwuwa a yi amfani da mata don takin sel. Wannan yana yiwuwa lokacin da mahaifa ya kai girman al'ada.
Idan babu mummunan lahani na zuciya, marasa lafiya tare da ciwo na Turner na iya rayuwa har zuwa tsufa na halitta. Idan kun bi tsarin maganin warkewa, to, zai yiwu a halicci iyali, rayuwa ta al'ada ta jima'i da kuma samun 'ya'ya. Ko da yake mafi yawan marasa lafiya ba su da haihuwa.
Matakan don rigakafin cutar an rage su zuwa shawarwari tare da likitan ilimin halitta da ganewar haihuwa.