Maʻi pale Rubinstein-Teybi: mea, lalau mai, lapaʻau, prognosis

I kēia manawa, ua nui loa kekahi mau maʻi i mea pilikia loa kākaʻikahi. Iwaena o lakou - o ka ho'ākāka ''ōewe mutations i ana infrequently. Naʻe, ka mea e pono ai, e ike i na mea a pau e pili ana ia lakou. I mea no ke aha la i keia la aʻu e makemake e kamailio e pili ana ia i ka pilikia e like me Rubinstein-Teybi maʻi pale.

A wahi moʻolelo

Initially, e pono ai ka mea i haawiia mai, e ike. No laila, i kēia maʻi pale i loko o ka moʻokalaleo i ho'ākāka 'ia ma mua hoʻi i ka makahiki 1963 ma nā kauka - Teybi a me Rubinsheynom. Ma ka hanohano o ia, nae, a me ka inoa o. Ua mea waiwai 'ana i kumumanaʻo i keia mea i ka maʻi me ia, akā, i ka kekahi'ōewe mutation, i hiki ke diagnosed ano, ma ke ano o ka hoʻomanawanui. No laila, kanaka e niio? Craniofacial hiʻona (anomalies), ka laula, lima. No hoi he mea noʻonoʻo retardation i ka loli iki ana degere. Pono, ka mea e e kaulana ia kanaka me keia maʻi pale i mutations i loko o nā nā'ōewe:

• i loko o ka CREB'ōewe, Aia ma 16p13 koa;
• i loko o ka EP300'ōewe ke aupuni 'o 22q13 koa.

Ma na kumu o ka maʻi

He ahaʻoe e hoʻolohe i loko o ka wahi mua, e noonoo pono i ka Rubinstein-Teybi maʻi pale? Nā kumu o ka pilikia - i ka ka mea nui i ka hōʻike. Me ua i haiia ae maluna, mutations ana i loko o ka CREB'ōewe e hiki aku ai i ka hoʻololi kemikala o ka'āno'ē kumuʻiʻo. Kahi o 10% o nā mea maʻi SVR? Iecaianoaaiiuo o ke kumuʻiʻo ua hapa 'ia a pau wahi. Other nā'ōewe ka mea, i ole he hoʻonui i keia kaʻina.

Nui hookahi o Ka hoʻololi 'ana i oi aku 1% o nā mea maʻi. Eia naʻe, ma laila ua ua ho'ā 'ia paha kekahi'ōewe, a ua ke aupuni' o 22q13.

No ke aha lā i loaʻa ia he mutation, ka noiʻi hiki ole ke olelo. Pela, e hoʻopaʻapaʻa ana i ua ole pū i hiki i ka pilikia, mai kekahi hanauna aku i kekahi ( 'o ia hoʻi ka sporadic). Eia naʻe, a pau ka hana ma fetal ulu. He aha kēia nui ia e loli ai - ka ai, ka oi aku o ka kaiapuni, inoʻano a me kekahi mau 'ano maʻi i gestation bebe -ʻepekema nō hiki ole ke hai.

Hōʻike o ke kīnā o ka maʻi

He aha nā hoailona i hōʻike 'ana i kekahi kanaka i Rubinstein-Teybi maʻi pale? No laila, e hana i kaʻike, kauka pinepine hiki koke ma hope o ka hanau ana o ke keiki. Ua ua wale ma ka helehelena bebe. Hiʻona i koke e lakou i manao ai:

• Ākea ihu.
• Pae holomua Lālā paʻa manamana nui.

No laila, i kēia mea ma ka loa, he pono ole symptoms. Eia naʻe, loaʻa nō nā nā hoailona i emi ole, a me ka ole a pau nā mea maʻi.

About lehalehu t anomalies

Me ua i haiia ae maluna, ina o ka hoʻomanawanui i Rubinstein-Teybi maʻi pale i kekahi craniofacial hiʻona e e malama. He aha, alaila, o ia?

1. I ka 100% o nā mea maʻi he mea hyperplasia o ke a luna. Ka makamake nui: hou kīleo.
2. No hoi pinepine, ma kahi o 90% o nā mea maʻi i hookolokoloia e ka ihu hoololi. He lilo e like me ka nuku.
3. Around 84% o ka hihia o ka maʻi i loko o keiki ua haʻahaʻa kanu pepeiao.
4. A 80% - Mongoloid, oa hou pauku o ka maka.
5. Kokoke 70% o nā mea maʻi i strabismus.
6. Nui anterior fontanelle hiki ke ike ia ma kahi o 40% o nā mea maʻi.
7. A me kekahi e hoomanawanui i (35%) i ka pilikia e like me microcephaly (ia kanaka iwipoo mea nui uuku i pili i ke kino).

loli manamana lima

Pehea'ē aʻe ikeia Rubinstein-Teybi maʻi pale? No laila, i loko o ka palapala o ka manamana lima wale, e hiki diagnose i ka pilikia nā mea maʻi.

1. I ka 100% o ka hihia i loko o nā mea maʻi me nā manamana loa a me nā manamana wāwae waiho loihi ana.
2. About 87% o nā mea maʻi i ka manamana nui i me ka ai-kapaia kahahānai pana pua.
3. Pono, i ka hapanui o nā mea maʻi (puni 87%) o na manamana a pau e iki i hoʻonoho mai (wā like me ke ola i ke kanaka).

Loli i loko o ka ulu a me ka ulu ana o kanaka

Ua hiki ke kōkua i ka ike i ka mea nana e like Rubinstein-Teybi, photo maʻi pale. No laila, pono e nana i ke kiʻi o nā kanaka i kēiaʻike, he mea hiki ke hana i kekahi mau hopena a. Eia naʻe, i loko o kēia mau e hoomanawanui i mea ole wale mawaho, akā, i na, ole i kekahi keʻike i nā hoʻololi a me mutations.

1. No ka mea, o ua kanaka ka mea, he lōpū noʻonoʻo retardation. Penei, o ka nui o ko lākou IQ ke kaha loko o 30-60 (i hookuu ia ma ka aina o 51).
2. Aneane pau hoʻomanawanui iki mai (a ia 90% o nā mea maʻi)ʻike piʻi i keʻano o ka'ōlelo pilikia.
3. People me keia mutation uuku kona kino. Men mai i ulu ma luna o 155 knm, na wahine - 147 knm.

Anomalies i loko o ka naʻau

Pehea'ē aʻe ike keia symptom? Pela, ua nānā 'hoʻomanawanui iki mai kekahi cardiac abnormalities.

• Mau kanaka ductus arteriosus me pono me keʻano o nā mā o ka interventricular septum.
• Pinepine diagnosed coarctation o ka aorta, na anomalies o ka aortic kiwikā, atrial septal mā.

Ua mea waiwai 'ana i kumumanaʻo i ua loli mai i hoʻomaka ai pela pinepine, ka mea i malama ia ma kahi o 33% o nā mea maʻi.

Other symptoms i kekahi pinepine malama

Aia nō 'ē symptoms i kānāwai i loko o kanaka me keia maʻi pale.

1. Cryptorchidism. Ua hoikeia mai ma ka aneane 80% o nā kānaka. Kēia nele no hoʻi i loko o ka scrotum no o ko lākou undescended.
2. I ka 75% o nā mea maʻi akaka ia hirsutism. Ua hoʻonuiʻia ka lauoho ulu mea o kane, type: nā wāwae, i na mea kaua, umauma.
3. Nō hoʻi, he nui nā mea maʻi me ka cardiac arrhythmias ka nanaia mai.

lapaʻau '

Pono i ke kamailio e pili ana, e like me ka ka noiʻi 'ana pehea kauka hiki i kēiaʻike. No laila, ka mea mua bele a hiki i ka huli 'pilikia mau i ka hoʻomanawanui ka helehelena. Eia naʻe, ma keia kumu wale e diagnose manao. Ma keia hihia, kauka hiki ke hoʻohana i ke kēia kiʻina hana:

• Koi 'ia aaiaoe ho'āʻo ua i. Kauka e kālailai i ka RAF'ōewe no ke alo o ka mutations.
• Mākou Pono haʻawina e like me ultrasound, ECG, echocardiography.
• I ka hoʻohana 'ana i ka iʻa hana. Keia ao, a hoʻoholo i ke kaʻina o nā kanaka DNA.
• A, o ka papa, e pono ai i kaʻano o neurological ho'āʻo ma.

lapaʻau

Inā ka hoʻomanawanui ua diagnosed me Rubinstein-Teybi maʻi pale, i ka iapaau ana ia i nele i kaʻoiaʻiʻo. Eia naʻe,ʻaʻole nō he hookahi hōʻoia koho pharmacological 'ana i kūpono a me na mea paahana. A pau e e pākahi. Ka mea nui wale nō 'aneʻi - i ke alo o kekahi mau symptoms. A me keia maʻi pale, ma ke ala, ua hoikeia mai ma nā mea a pau nā mea maʻi i loko o na aoao, e like me ka mea i he ākea variability.

No laila, i loko o kakahiaka kamaliʻi, i ka hoʻomanawanui, e pono ai kuikawa physical Inc, ke keiki mea i kahi loihi ma ke kua i loko o ka ulu. A no ke kūpono 'ana o ka lolo, e pono e hoʻohana i ka hoʻonaʻauao kūikawā polokalamu.

Lawe lapaau e like meʻoki lāʻau lapaʻau 'uao, wale e pono ai no ka kūikawā nāʻikepili. Kēia ulu mea,ʻaʻole e hiki i loko o nā hihia o ka maʻi pale. Pono, ka mea e e kaulana ia e kiʻi pohaku uinihepa, o keia pilikia mea hiki ole. Kēia mea,ʻaʻole he maʻi ia e hoola iho la oia me ka lapaʻauʻia hiki. No laila, ai 'e kōkua Makuakane wale me kekahi mau symptoms.

Kēla a me complications

He aha hou aʻe hiki oe e olelo aku no na maʻi like maʻi pale Rubinstein-Teybi? I ka olelo wanana a me ka dukima o complications - ia kekahi pono e e hai aku. Mawaena o na hihia o kā mākou pilikia i likeʻole kāna hana o ka naau, arrhythmias,'āno'ē kūpono 'ana o ka naau shape. Ua hiki no hoi i hoʻomaka ai noke pepeiao nā mea palahēhē, lohe poho hoʻomōhala. Pinepine, hoʻomanawanui iki mai i kekahi scars ma ka ili.

1. Pilikia me ka hanai ana keiki me kēiaʻike, hiki aku ai i kā lākou mau physical underdevelopment.
2. I ka papa kuhikuhiE kumu o ka make i loko o na keiki ma kekahi kakahiaka nui elemakule - he naehana maʻiʻaʻai. A me ka mea, i ka manawa i kūpono naʻau.
3. E pili ana i ka hooulu ana: i kakahiaka nui kamaliʻi, ka mea, ua loohia lakou e pili ana i 5-6 mahina. I ka makahiki o ka 6 makahiki, aʻo nā mea maʻi hiki i ka heluhelu, akā, i ka pono? Acaeoey ua 'ano ma luna ma mua o ka nui o ka haumāna papa mua.

Ua pono, He aha ia mea nui, e olelo aku, ina i kēia pilikia me ka maʻi pale Rubinstein-Teybi mākou noonoo - ola expectancy. Pehea ua nui wale na kanaka ke ola? No laila, kauka e olelo aku i ka kēla mea loa ai maikai, a me ke ola i kela mea kiʻekiʻe.