Hunter maʻi pale - pohihihi keia aaiaoe kāna hana

I ka lapaau, loaʻa nō i ka helu o ke nānā mai, e nā a me Hunter maʻi pale (Mucopolysaccharidosis 'ano 2), a, no kekahi laʻana, wale ma kahi o 50 kanaka ka maʻi i loko o Rusia. Ka maʻi He aaiaoe, a ua hele mai ka makuahine a hiki i na keikikane. A pau o kona ola ana ka makuahine, i ole e makaala i ka mea o ka lawe ana o ka poino'ōewe. Ka pahiki o ka hanau ana o ke keiki a me ka pathology o kēia mau wāhine - 50%. Akā, ka mea i hiki mai occasional (sporadic) mutation i loko o nā nā'ōewe o ka fetus, akā, na na makua mai,ʻaʻole i abnormalities.

Hunter maʻi pale, i keʻano papa hana o ka ulu ana

Ma kānaka he mea hoʻokahi tausani okoa metabolic keʻano o ka hanaʻana i ka hopena ma ka "wao mea" ka auoiaea i ka waho. A lohe o Hunter maʻi pale hehi mail mucopolysaccharides (glycosaminoglycans) ka mea,ʻaʻole e hōʻike 'ia, akā, loaa i loko o nā mea a pau kino nā'aʻaʻa. O ke kumu ho i ka mea i ole'ūhū iduronatsulfataza. Ua mea maopopo i loko o ia mau ana na nā loko, a nenoai oki i ka hana pono, ma laila nō 'aʻe'.

Hunter maʻi pale, lapaʻau kiʻi

Holo nōhie symptoms hoʻomaka e hōʻike wale nō ma hope o elua i ekolu makahiki, na keiki i hanau maʻamau, a me na makua i ka ike ole aku o ko lākou mau maʻi. Lehalehu t hiʻona e lohi leo, hoi, hanu i walaʻau, a me ke keiki hoʻomaka e kiʻi maʻi nui pinepine naehana hanu mea hoʻomaʻi nā mea palahēhē. Ke ano o ke keiki mea i ke ao ili ma luna o ka maka, pōkole'ā'ī, he pohihihi keia niho, lehelehe manoanoa, olelo a me ka ihu. Nā keiki a me Hunter maʻi pale mea ai like i kekahi i kekahi, i ka mea i hopuia no ka poe hoahanau.

Ma hope o 'ekolu eha paha makahiki kahiko kao i paakiki i ka hele, oolea o na ami lilo, oia nalowale ōhumu, hiki haule iho. Ka holoʻokoʻa skeletal'ōnaehana ua hoʻololi.

Hoʻomaka kāna hana o ka psyche, ke keiki e lilo resentful pahaʻano pākīkē. keiki kekahi wahi. Ke akamai pū nō hoʻi i ke keiki i loaa ai i kā lākou mau makahiki, ua nalowale. He i palupalu iho, olelo pohihihi hou aku.

Aneane pau loa nā mea maʻi e loli ai i ka naau, metabolic huahana accumulates i loko o ka nohona kiwikā o, ma o na la ia e hanaʻia naʻe. I adolescence, nā loli i imperceptible, i ka hoʻomaka o ka 'aʻe' hoike no ka adulthood.

He mauʻano likeʻole: A Hunter ka maʻi symptoms a me B. Ma ka palapala mua, i holopono nō hoʻomaka koke, aia hele mai ana i ka noʻonoʻo retardation, a me ka lua o ka palapala ka hiki pono o ka wā i ke keiki i ola akamai. Ke kaumaha ma muli o ka 'ano o ka maʻi ola expectancy ana o kanaka ke hiki 50-60 makahiki. Eia naʻe, me ka loa ano o na keiki ola i ke 8-9 makahiki.

ʻike, no ka maʻi

Ka mea maikaʻi Lolina ka loaʻaʻana o ka hereditary maʻi - aaiaoe haʻawina o ka fetus. Akā, ua loiloi mea ole, nolaila, hookaawale ia no ka mālama '-pohihihi keia kāna hana mea hiki ole.

Ma ka mimi ana o nā mea maʻi hoikeia mai he nui nui o heparan sulufahate a me ka dermatan.

X-Ray kiʻi o ka skeletal'ōnaehana - mau dysostosis (anomalies o skeletal? Acaeoey).

Hunter maʻi pale lapaʻau

Uluwehi no ka iapaau ana o mucopolysaccharidosisʻano 2 i ua synthesized a o ke koa wiwoʻole'ūhū. "Elapraza" pili i kekahi mea. Naʻe, ka mea i hiki ke loaa ole a pau nā mea maʻi, lāʻau koina i loa pipiʻi a wale nō i loaʻa wale aku no.

Iapaau ana o na keiki me Hunter maʻi pale e e uku ma ka moku'āina, akā, na Aupuni hoole ia lakou, mahope mai o ka makahiki hokii no kanaka mea like i ka Bedroom no ka malama ana i ka mea a pau? Aaieou. Akā, i ka iapaau ana o kēia mau keiki no ke ola, ka mea hiki ke hoohalikeia me ka mimikō Inc ka wā i kekahi kanaka mau pono insulina. Ua noa i ike i me insulina ole he diabetic e noho lōʻihi, no ka mea pilikia, a me keia pathology. Makua i nō somehow kahu ai, e kiʻi i ka lāʻau (kākoʻo ana ma, ke aloha), e olelo aku i ke keiki ua noho maikaʻi, e hoʻomaka ana e hele hou, a ola i ka nui maʻamau ola.