ʻO kēia maʻi e like me ka maʻi o Shereshevsky-Turner i nā kaikamāhine a ke ulu nei i ka lā mua o ka'ōpū. Na ke anomaly o nā chromosomes, i ka wā i uhakiʻia ai ka papa o nā moe kolohe. ʻAʻole loa hiki iāʻoe ke hoʻokuʻu iā ia.
ʻO Syndrome Shereshevsky-Turner - he aha ia?
ʻAʻole i loaʻa i nā kepekema ka pilina ma waena o ke olakino o nā mākua a me ka uluʻana o ka maʻi o ke keiki, e like me ka Turner's syndrome. Kāheaʻia iaʻo Ulrich's Syndrome. ʻO ka pilikia o ka makuahine e kali i ka weliweli o ka hāʻuleʻana (hiki i ka lā mua a iʻole ka lua o ka makahiki), kahiʻano kūpilikiʻi o ka toxicosis, a no ka manawa lōʻihi o ka hānauʻana a loaʻa nā maʻi.
Hiki i nā'ōpiopio hou ke holomua, akā, he mau meaʻino. No ka maʻi o Shereshevsky-Turner keʻano:
- nā hoʻololi i nā hui kīkoʻo;
- ka pokohiwi i ka'ā'ī;
- ua hanaʻia kaʻeke e like me ka lio holo lio.
ʻO Syndrome Shereshevsky-Turner -'ōlelo hoʻohālike
Hoʻokumuʻia ke kino kanaka ma ka'ōpū mai kekahi pūnaewele, i kapaʻia he zygote. Hanaʻia ia ma hope o ka huiʻana o nā'ekeu 2 e lawe ana i nāʻike pilikino mai ko lākou mau mākua. Na kēia mau genes e hoʻoholo i ka mea e hiki mai ana i keʻano a me ka olakino o ka pēpē. Hiki i nā hoʻohālikelike maʻamau ke hoʻonohonoho i nā chromosomes, e like me 46XX a 46XU paha. Inā hoʻopilikiaʻia ka papahana o ka gametogenesis, a laila he mea kelepona ke kōpoko i ka uluʻana.
ʻO ka pilikino o nā maʻi me ka maʻi Shereshevsky-Turner he mea pilikino kūpono ke hele a hoʻokuʻuʻia paha ka chromosome X. Hoʻohuiʻia kēia mahele me kahiʻano kūlike o nā loli i loko o ke kino, a hōʻike i loko o ka ulu kūponoʻole o nā'ōpiopio o ka hānai. ʻAʻole lākou i loko o kahi māmā o ka puʻupuʻu, aia kahi manaʻo o nā ovaries a me nā poʻe make.
ʻO Syndrome Shereshevsky-Turner - ke alapine o ka hana
Ua hōʻike muaʻia kēia maʻi i ka makahiki 1925. Hāpaiʻo Shereshevsky-Turner maʻi ma kahi kaikamahine hou oʻekolu tausani. ʻO ka nui o ka heluna kanaka o kēia manawa no kaʻikeʻoleʻana o ka'ōpū i loko o kēlā me kēia mau kumu. I nā hihia koʻikoʻi loa, ua hanaʻia kēlāʻano hōʻailona no nā keikikāne.
ʻO Syndrome Shereshevsky-Turner - nā kumu o
ʻO ka paneʻana i ka nīnau e pili ana i ke kumu o ka maʻi Shereshevsky-Turner, pono e'ōlelo e pili ana i ka anomaly o ka male X chromosome. Inā hoʻololiʻia, a laila i loko o ke kino o ka'ōpēpē e hana:
- kahi hoʻopauʻana o ka lima lōʻihi a kīkole paha;
- ka isochromosome X ma kahiʻokoʻa a lōʻihi paha;
- ke kālailai o X / X;
- ke kani X a me ka mea like.
ʻO nāʻano maʻi i loaʻa i loko o 20% o nā hihia inā loaʻa he mosaicism, e like paha, 45, X0 / 46, XY, 45, X0 / 46, XX. ʻO keʻano o ka hopena o ka maʻi i nā kāne e hiki ke ho'ākākaʻia ma ka hoʻoneʻeʻana. ʻO ka pilikia o ka hoʻonuiʻana i ka Shereshevsky-Turner syndromeʻaʻole pili i ka makahiki o ka makuahine e hiki mai ana. Hiki iā ia ke hana:
- no ka hana kūponoʻole i ka zygote;
- me ka nalowale o ka chromosome makua.
ʻO Syndrome Shereshevsky-Turner - hōʻailona
Hiki i ka maʻi ke hōʻike ma waho a ma ka hana o nā'ōpū āpau. I ka wā iʻikeʻiaʻo Sereshevsky-Turner maʻi, hiki i nā hōʻailona penei:
- lymphostasis;
- nā strabismus ;
- hypogonadism;
- kūkole pokole (ʻaʻole ke keu o ke kanaka makua ma mua o 150 cm);
- ka nui;
- ka hala o nā mea hōʻole;
- nā mea piliʻole i ka wahine;
- Hoʻonuiʻia ke kakana a heʻano kele ka pahu;
- pōkole ka pōkole;
- ʻano likeʻole o nā mea i pili i ka hālāwai hoʻolohe manaʻo;
- epicanthus aiʻole ptosis (kaʻinoʻino o ka'ōpū);
- nā kiko puaʻa (vitiligo aiʻole nevi).
I nā keiki hānau hou, hiki i nā wāwae, nā lima a me nāʻili i ka'ā'ī ke pehu,ʻaʻole e ulu ka lauoho. Heʻuʻuku nā iwi o ka iwi, he kiʻekiʻe ka lani. Ma ka paʻakikī o ka aorta e hiki ke hana, ua maʻalahi, a ua pilikia ka hilinaʻi o septum. ʻO ka hoʻonaʻauao hoʻonaʻauao me kahi maʻi e like me ka maʻi o Shereshevsky-Turnerʻaʻole ia eʻeha, akā, ua hoʻopauʻia ka nānā a me kaʻike.
Hoʻokomo pinepineʻia nā'īlio i loko, a maikaʻiʻole ka uluʻana o nā maʻi. Hoʻopihaʻia nā kēpau e nā kinipona pūnaewele e hoʻopukaʻole ana i nā pūnaewele a me ka hoʻomaha pihaʻana. ʻAʻole i hoʻomāhuahua nā kaikamāhine i ko lākou umauma,ʻaʻohe kūkikina, nā amene america ka mea i puka mai, no laila ua pau loa ka uluʻana. Loaʻa iʻekolu mauʻano o dysgenesis: maʻemaʻe, pōpō a me ka'āwili. Keʻano likeʻole lākou i nā hōʻailona hoʻokolohua.
ʻO Syndrome Shereshevsky-Turner - hōʻoia
Ke loaʻaʻole ka'ōpiopio X ma mua, a laila e hoʻopauʻia ka monosoma, e hōʻikeʻia ka maʻi o Shereshevsky-Turner e ka neonatologist ma ka halemai hānai a iʻole ka pediatric. Inā heleʻole nā hōʻailona nui o ka maʻi, e nānā e hiki iā ia wale nō ke kūʻana i ke kino. Hoʻonohonoho nā mea kūikawā i nā ho'āʻo no:
- nā homoni e hoʻoholo i nā gonadotropins a me ka estrogen;
- ke aʻoʻana.
I ka wā o ka hōʻoiaʻana o ka maʻi o Shereshevsky-Turner, e hele ka maʻi i ke kanaka ophthalmologist, nephrologist, mea hōʻailona lolo, diabethologist, endocrinologist, genetics, lymphologist, gynecologist / andrologist, and otolaryngologist. No kaʻikeʻana i nā mea hemahema, koho nā kauka:
- kiʻi kiʻi hoʻonanea magnetic ;
- ka nānāʻana i nā puʻupaʻa a me nāʻano holoholona;
- ke kohopona.
- hōʻike radiography;
- ke ho'āʻoʻana i ke koko;
- densitometry.
ʻO Syndrome Shereshevsky-Turner - maʻi
Me keʻano o ka hōʻailona, e like me ka synder Turner, ke olakino e pili ana i nāʻano o ka Y-chromosome i loko o ke karyotype. Inā loaʻa iā lākou, ua laweʻia ke kaikamahine e ka'alele puaʻa. Hanaʻia ka hana ma kahi'ōpio a hiki i ka 20 o ka makahiki. ʻO kāna pahuhopu nui ke kāohi i ke kūkuluʻiaʻana o ka'ōpūʻino. I ka nalowaleʻana o kēiaʻano, e kauʻia ka hormone therapy.
Ua mālamaʻia i nā makahiki he 16-18 aʻo ka pahuhopu nui o ka mālamaʻana he:
- ka hoʻomohalaʻana i nā hana pilikino lua;
- ka palekanaʻana i ka estrogen;
- ka hoʻouka houʻiaʻana o kaʻaneʻane ;
- emi mai ka nui o nā gonadotropins.
ʻO nā maʻi me ka maʻi o Shereshevsky-Turner ke kūkākūkāʻana i ka naʻau, kahi i kōkuaʻia ai lākou e hoʻololi i ka pilikanaka a hoʻomaikaʻi i ka maikaʻi o ke ola. Me kēia maʻi, he nui nā wāhine i koe i nā keiki. ʻO ka maʻamau,ʻo ia keʻano:
- ka hoʻomaʻemaʻeʻana i nā pōʻino o waho;
- ka uku no nā malformation ponoʻole i loko o ke kino;
- ke aʻoʻana i ka ulu;
- nā pilikia pilikia.
ʻO ke ola me ka maʻi o Shereshevsky-Turner
Ināʻikeʻia ka maʻi i ka wā mua a ua mālamaʻia ka lāʻau i ka manawa, a laila e hoʻonuiʻia ka ulu o ke keiki. Hoʻonaʻauao i kēia mau lā i nā kaikamāhine e lilo i kā lākou mau keiki, e like me IVF. ʻO ka ola me Turner's Syndrome he kūlana maikaʻi. ʻAʻole pilikia nā maʻi i nā meaʻinoʻole, akā, ua paleʻia lākou e nā hana kino a me nā neuropsychic.
Nā kānaka me Turner's Syndrome
ʻO kahiʻano maʻalahi o ka maʻi,ʻo iaʻo Shereshevsky-Turner mosaic syndrome. I kēia hihia, aia kekahi o nā pūnaewele wahine i kahi X chromosome, aʻo ke koena -ʻelua. ʻO nā keiki me kēia weheweheʻanaʻaʻole lākou i nā maʻi kūpilikiʻi, a me nā moe kolohe e pili ana me ka haipuleʻana,ʻaʻole i haʻiʻia, no laila, he manawa e hiki ai ke hāpaiʻana i ka wā e hiki mai ana. Aia ka phenotypeʻano'ē, akāʻaʻole naʻe e like me keʻano monosomy.
ʻO Syndrome Shereshevsky-Turner - ola ola
Inā makemakeʻoe i ka nīnau o ka Shereshevsky-Turner Syndrome he pronostic, a laila pono e'ōleloʻia,ʻaʻole ia e pili i ka manaʻolana ola. ʻO kahi maʻi likeʻole paha a me nā maʻi kūkō. Me nā kūpono kūpono a me ka manawa kūpono, nā alakaʻi e alakaʻi i kahi ola maʻamau, loaʻa nā hoa hana pilina a me nāʻohana.