ʻO ka maʻi ʻo Shereshevsky Turner

ʻO ka maʻi ʻo Shereshevsky Turner - He maʻi chromosomal kēia, i hōʻike ʻia i nā anomalies o ka hoʻomohala kino, i ka infantilism a me ke kino pōkole. ʻO ke kumu o kēia maʻi genomic he monosomy, ʻo ia hoʻi, hoʻokahi kāne X chromosome kāne maʻi.

Hoʻokumu ʻia ka maʻi ma muli o ka dysgenesis gonadal mua, i loaʻa ma muli o nā anomalies o ke kāne X chromosome. Wahi a nā helu, no nā keiki hānau hou he 3000, e hānau ʻia kahi keiki me Shereshevsky-Turner syndrome. Hoʻomaopopo ka poʻe noiʻi ʻaʻole ʻike ʻia ka helu maoli o nā hihia o kēia pathology, no ka mea, ʻike pinepine ʻia ka hāʻule ʻole o ka wahine i ka wā mua o ka hāpai ʻana ma muli o kēia maʻi genetic. ʻO ka pinepine, ʻike ʻia ka maʻi i nā keiki wahine. ʻAʻole pinepine, ʻike ʻia ka maʻi maʻi i nā keiki hānau kāne.

ʻO Synonyms o Shereshevsky-Turner syndrome nā huaʻōlelo "Ulrich-Turner syndrome", "Shereshevsky syndrome", "Turner syndrome". Ua kōkua kēia mau ʻepekema āpau i ke aʻo ʻana i kēia pathology.

Nā hōʻailona o ka maʻi Turner

Hoʻomaka nā hōʻailona o ka maʻi Turner mai ka hānau ʻana. ʻO ke kiʻi lapaʻau o ka maʻi penei:

• Hānau mua ʻia nā pēpē.

• Inā hānau ʻia ke keiki i ka manawa, a laila e hoʻohaʻahaʻa ʻia ke kaumaha o kona kino a me ke kiʻekiʻe e hoʻohālikelike ʻia i nā kumu waiwai. ʻO ke kaumaha o ia mau keiki mai ka 2,5 kg a 2,8 kg, a ʻaʻole ʻoi aku ka lōʻihi o ko lākou kino ma mua o 42-48 cm.

• Hoʻopōkole ʻia ka ʻāʻī o ke keiki hānau hou, aia nā peʻa ma nā ʻaoʻao. I ka lāʻau lapaʻau, kapa ʻia kēia ʻano maʻi pterygium.

• ʻO ka manawa pinepine i ka wā neonatal, ʻike ʻia nā hemahema o ka naʻau o ke ʻano congenital, lymphostasis. Ua pehu nā wāwae a me nā wāwae, a me nā lima o ke pēpē.

• Hoʻopilikia ʻia ke kaʻina hana o ka omo ʻana i kahi keiki, aia ke ʻano o ka regurgitation pinepine me kahi punawai. Aia ka hoʻomaha kaʻa.

• Me ka hoʻololi ʻana mai ka wā kamaliʻi a hiki i ka wā kamaliʻi, aia ka lag ʻaʻole i ke kino wale nō akā i ka ulu ʻana o ka noʻonoʻo. ʻO ka ʻōlelo, ka nānā ʻana, ka hoʻomanaʻo ʻana.

• Hiki ke keiki i ka otitis media ma muli o kona ulu ʻana i ka nalo lohe. Loaʻa pinepine ka otitis media ma waena o nā makahiki 6 a me 35 mau makahiki. I ka wā makua, ua maʻalahi nā wahine i ka holomua o ka lohe sensorineural, kahi e alakaʻi ai i ka nalowale o ka lohe ma hope o ka makahiki XNUMX a keu.

• I ka wā ʻōpio, ʻaʻole ʻoi aku ke kiʻekiʻe o nā keiki ma mua o 145 cm.

• ʻO ka hiʻohiʻona o kahi ʻōpio he mau hiʻohiʻona o kēia maʻi: pōkole ka ʻāʻī, uhi ʻia me nā pterygoid folds, ʻike ʻole ʻia nā hiʻohiʻona maka, palaualelo, ʻaʻohe wrinkles ma ka lae, mānoanoa ka lehelehe haʻahaʻa a haʻalulu (ke alo o kahi myopath. a i ʻole ka maka o ka sphinx). Ua hoʻohaʻahaʻa ʻia ka lauoho lauoho, ua deformed nā auricles, ua ākea ka umauma, aia kahi anomaly o ka iwi iwi me ka underdevelopment o ka iwi ā lalo.

• ʻO ka uhaki pinepine ʻana i nā iwi a me nā hui. Hiki ke hoʻomaopopo i ka dysplasia hip a me ka neʻe ʻana o ka hui kuʻekuʻe. ʻO ka manawa pinepine, he curvature o nā iwi o ka wāwae haʻahaʻa, pōkole o nā manamana lima 4 a me 5 ma nā lima, a ʻike ʻia ka scoliosis.

• ʻO ka lawaʻole o ka hanaʻana o ka estrogen e alakaʻi i ka uluʻana o ka osteoporosis, aʻo ia hoʻi, ke kumu o ka haʻihaʻi pinepine.

• Hāʻawi ka lani gothic kiʻekiʻe i ka hoʻololi ʻana o ka leo, e hoʻonui ai i kona leo. Loaʻa paha ka ulu ʻana o nā niho, kahi e pono ai ka hoʻoponopono orthodontic.

• Ke ulu aʻe ka mea maʻi, nalowale ka edema lymphatic, akā hiki ke hana i ka wā hoʻoikaika kino.

• ʻAʻole pilikia ka naʻauao o ka poʻe me Shershevsky-Turner Syndrome, ʻaʻole ʻike ʻia ka oligophrenia.

Ma kahi kaʻawale, pono ia e ʻike i nā hewa o ka hana ʻana o nā ʻāpana like ʻole a me nā ʻōnaehana o nā ʻano o ka Turner's Syndrome:

• Ma ka ʻaoʻao o ka ʻōnaehana hānau, ʻo ka hōʻailona nui o ka maʻi ʻo ia ka hypogonadism mua (a i ʻole ka moekolohe pēpē). 100% o nā wāhine i loaʻa i kēia. I ka manawa like, ʻaʻohe follicles i loko o kā lākou ovaries, a ʻo lākou iho e hōʻike ʻia e nā kaula fibrous. ʻAʻole hoʻomohala ʻia ka ʻōpū, hoʻemi ʻia ka nui e pili ana i ka makahiki a me ka maʻamau physiological. He ʻano scrotum ka labia majora, a ʻaʻole i hoʻomohala piha ka labia minora, hymen a me clitoris.

• I ka wā pubertal, loaʻa i nā kaikamahine ka underdevelopment o ka mammary glands me nā nipples inverted, liʻiliʻi ka lauoho. Hiki mai nā manawa lohi a ʻaʻole hoʻomaka paha. ʻO ka infertility kahi hōʻailona pinepine o ka maʻi o Turner, akā naʻe, me kekahi mau ʻano o ka hoʻoponopono hou ʻana, hiki ke hoʻomaka a me ka hānau ʻana.

• Inā ʻike ʻia ka maʻi i loko o nā kāne, a laila ma ka ʻaoʻao o ka ʻōnaehana hānau he mau pilikia i ka hoʻokumu ʻana o nā testicles me kā lākou hypoplasia a i ʻole bilateral cryptorchidism, anorchia, kahi haʻahaʻa haʻahaʻa loa o ka testosterone i ke koko.

• Ma ka ʻaoʻao o ka ʻōnaehana cardiovascular, loaʻa pinepine kahi ventricular septal defect, he open ductus arteriosus, aneurysm a coarctation o ka aorta, coronary heart disease.

• Ma ka ʻaoʻao o ka ʻōnaehana urinary, ka pālua ʻana o ka pelvis, stenosis o nā ʻaʻa renal, ka hiki ʻana o kahi puʻupaʻa lio-like, a me kahi wahi atypical o nā veins renal.

• Mai ka ʻōnaehana ʻike: strabismus, ptosis, makapō kala, myopia.

• ʻAʻole maʻamau nā pilikia dermatological, no ka laʻana, pigmented nevi i ka nui, alopecia, hypertrichosis, vitiligo.

• Ma ka ʻaoʻao o ka ʻōpū o ka ʻōpū, ʻoi aku ka nui o ka pilikia o ka hoʻomohala ʻana i ka maʻi kanesa colon.

• Mai ka ʻōnaehana endocrine: thyroiditis o Hashimoto, hypothyroidism.

• ʻO nā maʻi metabolic ke kumu i ka ulu ʻana o ka maʻi diabetes type XNUMX. Hiki i nā wāhine ke lilo i ka momona.

Nā kumu o ka Turner Syndrome

Aia nā kumu o ka maʻi Turner i nā pathologies genetic. ʻO kā lākou kumu he hōʻino helu i ka X chromosome a i ʻole he uhaki i kona ʻano.

Hiki ke hoʻopili ʻia nā ʻokoʻa i ka hoʻokumu ʻana o ka chromosome X i ka maʻi Turner me kēia mau anomalies:

• I ka hapa nui o nā hihia, ʻike ʻia ka monosomy o ka X chromosome. ʻO ia ke ʻano o ka nalo ʻana o ka mea maʻi i kahi chromosome sex lua. ʻIke ʻia kēlā ʻano hewa i 60% o nā hihia.

• ʻIke ʻia nā anomalies like ʻole i ka chromosome X ma 20% o nā hihia. Hiki iā ia ke holoi i kahi lima lōʻihi a pōkole paha, kahi unuhi chromosomal ʻano X / X, kahi hoʻopau hope ma nā lima ʻelua o ka chromosome X me ke ʻano o kahi chromosome apo, etc.

• ʻO kekahi 20% o nā hihia o ka hoʻomohala ʻana o ka maʻi Shereshevsky-Turner e loaʻa i ka mosaicism, ʻo ia hoʻi, ka hele ʻana i loko o nā ʻiʻo kanaka o nā cell genetically i nā ʻano like ʻole.

• Inā loaʻa ka pathology i nā kāne, a laila ʻo ke kumu ka mosaicism a i ʻole translocation.

I ka manawa like, ʻaʻole pili ka makahiki o ka wahine hāpai i ka piʻi nui o ka hānau ʻana o kahi keiki hou me Turner syndrome. ʻO nā loli pathological ʻelua, qualitative, a me ka hoʻololi ʻana i ka chromosome X ma muli o ka meiotic divergence o nā chromosomes. I ka wā o ka hāpai ʻana, loaʻa ka wahine i ka toxicosis, loaʻa iā ia kahi pilikia kiʻekiʻe o ka hāpai ʻana a me ka pilikia o ka hānau mua ʻana.

Lapaʻau ʻana i ka maʻi maʻi o Turner

Hoʻomaʻamaʻa ʻia ka maʻi ʻo Turner e hoʻoulu i ka ulu ʻana o ka mea maʻi, i ka hoʻoulu ʻana i ke kūkulu ʻana i nā hōʻailona e hoʻoholo ai i ke kāne o ke kanaka. No nā wahine, ho'āʻo nā kauka e hoʻoponopono i ke kaʻina menstrual a hoʻokō i kāna normalization i ka wā e hiki mai ana.

I ka wā liʻiliʻi, hele mai ka lāʻau lapaʻau i ka lawe ʻana i nā mea paʻakikī vitamina, ke kipa ʻana i ke keʻena o ka masseur, a me ka hana hoʻoikaika kino. Pono e loaʻa i ke keiki ka meaʻai maikaʻi.

No ka hoʻonuiʻana i ka uluʻana, ua'ōleloʻia ka lāʻau hormonal me ka hoʻohanaʻana i ka hormone Somatotropin. Hāʻawi ʻia ia e ka injection subcutaneously i kēlā me kēia lā. Pono e mālama ʻia ka mālama ʻana me Somatotropin a hiki i 15 mau makahiki, a hiki i ka lohi o ka ulu ʻana i 20 mm i kēlā me kēia makahiki. Hāʻawi i ka lāʻau i ka wā e moe ai. ʻO ia lāʻau lapaʻau e hiki ai i nā poʻe maʻi me Turner's Syndrome ke ulu i 150-155 cm. Manaʻo nā kauka e hoʻohui i ka lāʻau hormonal me ka hoʻohana ʻana i nā steroid anabolic. He mea nui ka nānā mau ʻana e ka gynecologist a me ka endocrinologist, no ka mea, ʻo ka hormone therapy me ka hoʻohana lōʻihi hiki ke hoʻopilikia i nā pilikia like ʻole.

Hoʻomaka ka lāʻau hoʻololi estrogen mai ka manawa a hiki i kahi ʻōpio ke 13 mau makahiki. ʻAe kēia iā ʻoe e hoʻohālikelike i ka ʻōpio maʻamau o kahi kaikamahine. Ma hope o hoʻokahi makahiki a i ʻole makahiki a me ka hapa, ua ʻōlelo ʻia e hoʻomaka i kahi papa cyclic o ka lawe ʻana i nā contraceptive waha estrogen-progesterone. Hoʻomaʻamaʻa ʻia ka hormone therapy no nā wahine a hiki i 50 mau makahiki. Inā ʻike ʻia ke kāne i ka maʻi, a laila ʻōlelo ʻia ʻo ia e lawe i nā hormone kāne.

Hoʻopau ʻia nā hemahema koʻikoʻi, ʻo ia hoʻi, nā paʻi ma ka ʻāʻī, me ke kōkua ʻana o ka ʻoki plastik.

ʻO ke ʻano IVF e hiki ai i nā wahine ke hāpai i ka hoʻololi ʻana i kahi hua manu hāʻawi iā ia. Eia nō naʻe, inā ʻike ʻia ka hana ovarian pōkole ma ka liʻiliʻi, a laila hiki ke hoʻohana i nā wahine e hoʻomaʻamaʻa i kā lākou mau cell. Hiki kēia ke hiki i ka ʻōpū i ka nui maʻamau.

I ka loaʻa ʻole o nā puʻuwai koʻikoʻi, hiki i nā maʻi me Turner Syndrome ke ola i kahi ʻelemakule maoli. Inā pili ʻoe i ka hoʻolālā therapeutic, a laila hiki ke hana i kahi ʻohana, ola i kahi ola moe maʻamau a loaʻa nā keiki. ʻOiai ka hapa nui o nā maʻi e noho keiki ʻole.

Hoʻemi ʻia nā hana e pale ai i ka maʻi i kahi kūkākūkā me kahi geneticist a me ka maʻi prenatal.