He aha ka Toulouse-Lautrec Syndrome?

Anter

• He aha ke kumu?
• He aha nā hōʻailona?
• Pehea ia ʻike?
• Nā koho lapaʻau
• He aha ke kuanaʻike?

Hōʻike Overview

ʻO Toulouse-Lautrec Syndrome kahi maʻi maʻi laha ʻole i manaʻo ʻia e hoʻopili ma kahi o 1 i 1.7 miliona poʻe ma ka honua holoʻokoʻa. He 200 wale nō mau hihia i wehewehe ʻia i loko o ka palapala.

Ua kapa ʻia ka maʻi Toulouse-Lautrec i kapa ʻia ma hope o ka mea pena kaulana Farani kenekulia ʻo Henri de Toulouse-Lautrec, ka mea i manaʻo ʻia ua loaʻa kēia maʻi. ʻIke ʻia ka maʻi maʻi ma ke ʻano he pycnodysostosis (PYCD). Hoʻokumu ʻo PYCD i nā iwi palupalu, a me nā mea kūpono ʻole o ka maka, nā lima, a me nā ʻāpana ʻē aʻe o ke kino.

He aha ke kumu?

Kahi hoʻololi ʻana o ka ʻāpana e helu ana i ka enzyme cathepsin K (CTSK) ma ka chromosome 1q21 ke kumu o ka PYCD. He kuleana nui ʻo Cathepsin K i ka hana hou ʻana o ka iwi. Ma kahi kikoʻī, haki ia i ka collagen, kahi protein e hana ma ke ʻano he scaffolding e kākoʻo i nā minelala e like me ka calcium a me ka phosphate i nā iwi. ʻO ka mutation genetic e kumu i ka maʻi Toulouse-Lautrec e alakaʻi i ka buildup o collagen a paʻa loa, akā palupalu nā iwi.

ʻO PYCD kahi maʻi recessive autosomal. ʻO ia ka mea e hānau ʻia kahi kanaka me nā kope ʻelua o kahi ʻaoʻao ʻokoʻa no ka maʻi a i ʻole ke ʻano kino e hoʻomohala. Hoʻohui pālua ʻia nā Genes Loaʻa iā ʻoe hoʻokahi mai kou makuakāne a hoʻokahi mai kou makuahine. Inā loaʻa i nā mākua ʻelua kahi ʻano mutated, hana lākou i nā mea lawe. ʻO nā hanana i hiki ke hiki i nā keiki ola o nā mea lawe ʻelua.

• Inā hoʻoilina ke keiki i hoʻokahi aʻa mutated a me hoʻokahi ʻāpana i hoʻopili ʻole ʻia, he lawe pū kekahi lākou, akā ʻaʻole e hoʻomohala i ka maʻi (50 pakeneka kūpono).
• Inā hoʻoilina ke keiki i ka gen mutated mai nā mākua ʻelua, loaʻa ka maʻi iā lākou (25 pākēneka manawa kūpono).
• Inā hoʻoilina ke keiki i ka ʻaoʻao unaffected mai nā mākua ʻelua, ʻaʻole lākou he lawe a ʻaʻole hoʻi e loaʻa ka maʻi iā lākou (25 pakeneka kūpono).

He aha nā hōʻailona?

ʻO ka manoanoa, akā palupalu, nā iwi ka hōʻailona nui o PYCD. Akā he nui aku nā hiʻohiʻona kino i hiki ke hoʻomohala ʻokoʻa i ka poʻe me ke ʻano. Aia i waena o lākou nā:

• lae kiʻekiʻe
• nā manamana lima ʻole a me nā manamana pōkole
• kaupaku o ka waha
• manamana wāwae pōkole
• ke kino pōkole, pinepine me kahi kumu nui a me nā wāwae pōkole
• lau hanu ʻole
• ate akea
• ka paʻakikī me nā hana noʻonoʻo, ʻoiai ʻaʻole ʻike pinepine ʻia ka ʻike

No ka mea ʻo PYCD kahi maʻi nāwaliwali iwi, kū ka poʻe me ke ʻano i kahi kiʻekiʻe o ka hāʻule a me nā haki. Hoʻopili nā pilikia i nā haʻihaʻi me ka hoʻoliʻiliʻi hoʻoliʻiliʻi. ʻO ka hiki ʻole ke hoʻoikaika kino mau, ma muli o ka haki o ka iwi, a laila hiki ke hoʻopili i ka paona, ka hoʻoikaika kino puʻuwai, a me ke olakino holoʻokoʻa.

Pehea ia ʻike?

Hana pinepine ʻia ka diagnose Toulouse-Lautrec Syndrome i ka wā kamaliʻi. Ma muli o ka loaʻa ʻole o ka maʻi, akā hiki i kekahi manawa ke paʻakikī i ke kauka e hana i ka ʻike kūpono. ʻO kahi hoʻokolohua kino, ka mōʻaukala olakino, a me nā hoʻokolohua hoʻokolohua kahi ʻāpana o ke kaʻina. ʻO ke kiʻi ʻana i ka mōʻaukala ʻohana he mea kōkua nui loa ia, ʻoiai ke kū nei o PYCD a i ʻole nā ​​kūlana hoʻoilina ʻē aʻe hiki ke kōkua i ke alakaʻi ʻana i ka hoʻokolokolo a ka kauka.

Hiki ke hōʻike pono ʻia nā kukuna X me PYCD. Hiki i kēia mau kiʻi ke hōʻike i nā ʻano o nā iwi i kūlike me nā hōʻailona PYCD.

Hiki i nā hoʻokalakupua molecular ke hōʻoia i kahi kuhi. Eia nō naʻe, pono ke kauka e ʻike e hoʻāʻo no ka ʻaoʻao CTSK. Hana ʻia ka hoʻāʻo ʻana no ka ʻāpana ma nā keʻena hoʻokolohua loea, no ka mea, he hana hoʻāʻo pinepine ʻole ʻia.

Nā koho lapaʻau

ʻO ka maʻa mau ka hui o nā loea i ka mālama PYCD. E loaʻa i kahi keiki me ka PYCD kahi hui olakino e komo pū ana me kahi pediatrician, he orthopedist (ka loio o ka iwi), he loea paha, a he endocrinologist paha i loea i nā maʻi hormonal. (ʻOiai ʻaʻole kikoʻī ʻo PYCD i kahi maʻi hormonal, hiki i kekahi mau hoʻomaʻamaʻa hormonal, e like me ka ulu ʻana o ka hormone, ke kōkua me nā ʻōuli.)

ʻO nā mākua me ka PYCD he loea like me ka hoʻohui o kā lākou kauka mālama mua, nāna e hoʻonohonoho i kā lākou mālama.

Pono e hoʻolālā ʻia ka mālama PYCD no kāu mau hōʻailona kikoʻī. Inā hoʻopili ka kaupaku o kou waha i mea e hoʻopili ʻia ai ke olakino o kou mau niho a me kāu nahu, a laila kahi kauka niho, orthodontist, a malia paha he kaukoki haʻi waha e hoʻohui i kāu mālama niho. Hiki ke lawe ʻia mai kahi ʻokiʻoki cosmetic e kōkua i nā ʻōuli o ke alo.

He mea nui ka mālama ʻana o kahi orthopedist a me orstopedic surgeon i kou ola holoʻokoʻa. Loaʻa iā Toulouse-Lautrec Syndrome ʻo ia paha e loaʻa iā ʻoe i nā haʻi iwi maha. Hiki i kēia mau mea ke haki maʻamau i kū me kahi hāʻule a i ʻole kahi ʻeha ʻē aʻe. Hiki iā lākou ke lilo i nā haʻihaʻi kaumaha e ulu i ka manawa.

ʻO kekahi kanaka me nā haki he nui i ka wahi like, e like me ka tibia (shinbone), hiki i kekahi manawa ke loaʻa kahi manawa paʻakikī e ʻike ʻia me nā haʻihaʻi koʻikoʻi no ka mea e hoʻopili ka iwi i nā laina haʻi mai nā haki mua. I kekahi manawa pono ke kanaka me ka PYCD a i ʻole ke ʻano iwi iwi palupalu i koʻokoʻo i kau ʻia i hoʻokahi a ʻelua mau wāwae paha.

Inā kuhi ʻia ka maʻi i loko o kahi keiki, kūpono paha ka hoʻōla hormonone ulu. ʻO ke kino pōkole kahi hopena maʻamau o PYCD, akā kōkua maikaʻi ʻia nā homone ulu e ka endocrinologist.

ʻO nā noiʻi ʻē aʻe e hōʻeuʻeu nei e pili ana i ka hoʻohana ʻana o nā mea hoʻopōpō enzyme, ka mea e hoʻopilikia i ka hana o nā enzyme i hiki ke hōʻeha i ka olakino iwi.

Hoʻohui pū kekahi me ka noiʻi hoʻohiki i ka hana ʻana o kahi hana a kekahi ʻano kikoʻī. ʻO kahi mea hana no kēia mea i ʻike ʻia ʻo Clustered Regularly Interspaced Palindromic Repeats (CRISPR). Pili ia i ka hoʻoponopono ʻana i ka genome o kahi pūnaewele ola. ʻO CRISPR kahi ʻenehana hou a ke aʻo ʻia nei i ka mālama ʻana i nā ʻano hoʻoilina he nui. ʻAʻole maopopo akā hiki ke lilo i ala palekana a maikaʻi hoʻi o ka mālama ʻana iā PYCD.

He aha ke kuanaʻike?

ʻO ka noho ʻana me ka pycnodysostosis ʻo ia hoʻi ka hana ʻana i kahi helu o nā hoʻoponopono nohona. ʻAʻole pāʻani nā keiki a me nā mākua me ke ʻano i nā haʻuki pili. ʻOi aku ka maikaʻi o nā koho ʻē aʻe a me ke keke keke, no ka mea o ka makaʻu o ka haki o lalo.

Inā loaʻa iā ʻoe ka pycnodysostosis, pono ʻoe e kūkākūkā me kāu hoa i nā manaʻolana o ka hāʻawi ʻana i ka ʻāpana i kāu keiki. E makemake paha kāu pakanā e hana i ka hoʻāʻo genetic e ʻike ai inā he lawe lākou. Inā ʻaʻole lākou he lawe, ʻaʻole hiki iā ʻoe ke hāʻawi i ke ʻano iā ia iho i kāu poʻe keiki olaola. Akā ʻoiai he ʻelua kope o ka gen mutated, nā keiki olaola āu e hoʻoilina ai i kekahi o kēia mau kope a lilo i mea lawe. Inā he mea lawe kāu hoa a loaʻa iā ʻoe PYCD, ka likelihood o kahi keiki olaola e hoʻoilina i nā genes ʻelua mutated a no laila ke piʻi nei ke ʻano iā 50 pākēneka.

ʻO ka loaʻa ʻana iā Toulouse-Lautrec Syndrome ʻaʻole ia e hoʻopili i ka lana o ke ola. Inā maikaʻi ʻoe i kahi olakino, pono ʻoe e ola i kahi ola piha, me kekahi mau akahele a me ka hoʻopili mau ʻana o kahi hui o nā ʻoihana ola.