Loeys-Dietz Syndrome

Anter

• Nā ʻano
• He aha nā wahi o ke kino e hoʻopili ʻia e Loeys-Dietz Syndrome?
• ʻO ke ola a me ka wānana
• Nā ʻōuli o Loeys-Dietz Syndrome
• Nā pilikia o ka naʻau a me ke koko
• Nā hiʻohiʻona helehelena
• Nā ʻōnaehana ʻōiwi skeletal
• Nā ʻōuli o ka ʻili
• Nā pilikia maka
• Nā ʻōuli ʻē aʻe
• He aha ke kumu o Loeys-Dietz Syndrome?
• Loeys-Dietz maʻi a me ka hāpai keiki
• Pehea e mālama ʻia ai ʻo Loeys-Dietz Syndrome?
• Lawe aku

Hōʻike Overview

ʻO Loeys-Dietz Syndrome kahi maʻi maʻi e hoʻopili i kaʻiʻo pili. He mea nui ka pūnaewele hoʻopili no ka hāʻawi ʻana i ka ikaika a me ka maʻalahi i nā iwi, nā liga, nā mākala, a me nā kīʻaha koko.

ʻO Loeys-Dietz Syndrome i wehewehe mua ʻia ma 2005.ʻO kona mau hiʻohiʻona e like me ka Marfan's syndrome a me Ehlers-Danlos Syndrome, akā ʻo Loeys-Dietz Syndrome ka mea i hoʻokumu ʻia e nā hoʻololi kūpuna ʻokoʻa. Hiki i nā maʻi o nā mea hoʻopili ke hoʻopili i ke kino holoʻokoʻa, e like me ka ʻōnaehana iwi, ka ʻili, ka naʻau, nā maka, a me nā ʻōnaehana pale.

ʻO nā poʻe me Loeys-Dietz Syndrome loaʻa nā hiʻohiʻona hiʻohiʻona ʻokoʻa, e like me nā maka ākea ākea, kahi hāmama i ka hale i ka waha (cleft palate), a me nā maka i kuhi ʻole i ke ala like (strabismus) - akā ʻaʻohe mea ʻelua me ka like pū ka maʻi.

Nā ʻano

Aia he ʻelima mau ʻano o ka maʻi Loeys-Dietz, i lepili ʻia ia I ma o V. Pili ka ʻano i ke ʻano o ka hoʻohuli genetic i ke kumu o ka maʻi.

• ʻAno I kumu ʻia e ka hoʻololi ʻana i ka mea ulu beta receptor 1 (TGFBR1) hoʻololi kūʻē
• ʻAno II kumu ʻia e ka hoʻololi ʻana i ka mea ulu beta receptor 2 (TGFBR2) hoʻololi kūʻē
• ʻAno III kumu ʻia e nā makuahine kūʻē i ka homolog decapentaplegic 3 (SMAD3) hoʻololi kūʻē
• ʻAno IV kumu ʻia e ka hoʻololi ʻana i ka mea ulu beta 2 ligand (TGFB2) hoʻololi kūʻē
• ʻAno V kumu ʻia e ka hoʻololi ʻana i ka mea ulu beta 3 ligand (TGFB3) hoʻololi kūʻē

ʻOiai ʻo Loeys-Dietz kahi maʻi hou loa, ke aʻo mau nei nā ʻepekema e pili ana i nā ʻokoʻa i nā hiʻohiʻona olakino ma waena o nā ʻano ʻelima.

He aha nā wahi o ke kino e hoʻopili ʻia e Loeys-Dietz Syndrome?

Ma ke ʻano he maʻi o nā mea hoʻopili, hiki i ka Loeys-Dietz Syndrome ke hoʻopili i nā ʻāpana āpau o ke kino. ʻO nā aʻe nā wahi maʻamau o ka hopohopo no ka poʻe me kēia maʻi.

• Puʻuwai
• nā kīʻaha koko, ʻo ia hoʻi ka aorta
• maka
• alo
• ʻōnaehana iwi, me ka iwi poʻo a me ka iwi kuamoʻo
• nā ami
• ʻili
• ʻōnaehana pale ʻino
• ʻōnaehana digestive
• nā ʻuha hakahaka, e like me ka pelupelu, ka pūpū, a me nā ʻōpū

Loeys-Dietz Syndrome ʻokoʻa mai kekahi kanaka i kekahi kanaka. No laila ʻaʻole kēlā me kēia kanaka me ka Loeys-Dietz Syndrome e loaʻa nā hōʻailona ma kēia mau ʻāpana āpau o ke kino.

ʻO ke ola a me ka wānana

Ma muli o ka nui o nā pilikia hoʻoweliweli e pili ana i ka puʻuwai o ke kanaka, iwi, a me ka ʻōnaehana pale, ʻo ka poʻe me Loeys-Dietz syndrome ka mea i ʻoi aku ka nui o ka manawa ke ola. Eia nō naʻe, ke hana mau ʻia nei nā holomua i ka mālama olakino e kōkua i ka hōʻemi ʻana i nā pilikia no ka poʻe i hoʻopilikia ʻia e ka maʻi.

E like me ka manawa i ʻike ʻia ai ka maʻi maʻi, he paʻakikī e kuhi i ke ola maoli no kekahi me ka maʻi Loeys-Dietz. ʻO ka manawa pinepine, nā hihia ʻoi loa o kahi maʻi hou e hele mai i ka lāʻau lapaʻau. ʻAʻole hōʻike kēia mau hihia i ka kūleʻa o kēia wā i ka lapaʻau. I kēia mau lā, hiki i ka poʻe e noho nei me Loeys-Dietz ke alakaʻi i kahi ola lōʻihi.

Nā ʻōuli o Loeys-Dietz Syndrome

Hiki i nā ʻōuli o Loeys-Dietz Syndrome ke ala aʻe i kēlā me kēia manawa i ka wā kamaliʻi ma o ka makua. Hoʻololi ka paʻakikī i kēlā me kēia kanaka.

ʻO nā mea aʻe nā hiʻohiʻona loa o ka maʻi Loeys-Dietz. Eia nō naʻe, he mea nui e hoʻomaopopo ʻaʻole i ʻike ʻia kēia mau ʻōuli i nā poʻe āpau a mai alakaʻi mau i kahi ʻike pololei o ka maʻi.

Nā pilikia o ka naʻau a me ke koko

• ka hoʻonui ʻana o ke aorta (ka ipu koko e lawe i ke koko mai ka puʻuwai a i ke koena o ke kino)
• he aneurysm, he puʻupuʻu i loko o ka paia kīʻaha koko
• ʻoki aortic, haehae hikiwawe i nā papa i ka paia aorta
• tortuosity arterial, wili a me nā aʻa ʻoni
• nā kīnā naʻau hānau ʻē aʻe

Nā hiʻohiʻona helehelena

• hypertelorism, maka ākea ākea
• bifid (split) a i ʻole broad uvula (ka ʻāpana ʻiʻo e kau i lalo o ka waha)
• iwi papalina pālahalaha
• hoʻoluli iki i lalo i nā maka
• craniosynostosis, hoʻohui mua o nā iwi iwi poʻo
• hāleo, puka ma ka kaupaku o ka waha
• polū sclerae, he uliuli ʻulaʻula i ke keʻokeʻo o nā maka
• he micrognathia, he ʻauʻau liʻiliʻi
• retrognathia, hoʻi ʻana o ka aʻa

Nā ʻōnaehana ʻōiwi skeletal

• nā manamana lōʻihi a me nā manamana wāwae
• nā ʻaelike o nā manamana
• wāwae wāwae
• scoliosis, ʻōwili o ke kuamoʻo
• ka hiki ʻole o ka iwi ʻāʻī
• laxity hui
• pectus excavatum (kahi poho o ka umauma) a i ʻole pectus carinatum (kahi pahu e ulu ana)
• osteoarthritis, ami ami
• pes planus, wāwae pālahalaha

Nā ʻōuli o ka ʻili

• ʻili translucent
• ʻili palupalu a wili paha
• paopao maʻalahi
• kahe koko maʻalahi
• eczema
• scarring maʻamau

Nā pilikia maka

• myopia, nearsightedness
• nā maʻi mākala maka
• strabismus, nā maka i kuhikuhi ʻole i ke ala like
• hoʻokaʻawale retina

Nā ʻōuli ʻē aʻe

• nā meaʻai a i ʻole nā ​​mea āpau āpau
• maʻi maʻi gastrointestinal
• hānō

He aha ke kumu o Loeys-Dietz Syndrome?

ʻO Loeys-Dietz Syndrome kahi maʻi kūlohelohe i hoʻokumu ʻia e kahi hoʻololi mutation (hewa) i hoʻokahi o nā ʻelima ʻelima. ʻO kēia mau ʻelima ʻelima ke kuleana no ka hana ʻana i nā mea loaʻa a me nā mole ʻē aʻe i ke ala e ulu nei ʻo factor-beta (TGF-beta). He mea nui kēia ala i ka ulu kūpono a me ka hoʻomohala ʻana i nā mea hoʻopili o ke kino. ʻO kēia mau ʻāpana:

• TGFBR1
• TGFBR2
• SMAD-3
• TGFBR2
• TGFBR3

Loaʻa i ka maʻi ka mana autosomal o ka hoʻoilina. ʻO kēia ke kumu hoʻokahi wale nō kope o ka gen mutated ka mea e lawa ai ka maʻi. Inā loaʻa iā Loeys-Dietz Syndrome, aia he 50 pākēneka manawa kūpono e loaʻa pū kekahi maʻi i kāu keiki. Eia nō naʻe, ma kahi o 75 pākēneka o nā hihia o Loeys-Dietz Syndrome e kū i ka poʻe me ka ʻole ʻohana o ka maʻi. Akā, kū lōkahi ke kīpē genetic i loko o ka ʻōpū.

Loeys-Dietz maʻi a me ka hāpai keiki

No nā wahine me ka maʻi Loeys-Dietz, paipai ʻia e loiloi i kāu mau pilikia me ke kākāʻōlelo genetic ma mua o ka hāpai ʻana. Aia nā koho hoʻāʻo e hana ʻia i ka wā hāpai e hoʻoholo ai inā loaʻa ka maʻi i ka fetus.

ʻO ka wahine me Loeys-Dietz Syndrome e ʻoi aku ka nui o ka makaʻi o ka dissection aortic a me ka haki o ka uterine i ka wā hāpai a ma hope pono o ka hānau ʻana. ʻO kēia no ka hāpai ʻana o ka hāpai i ka hoʻonui i ke koʻikoʻi ma ka puʻuwai a me nā kīʻaha koko.

ʻO nā wahine me ka maʻi aortic a i ʻole nā ​​kīnā o ka puʻuwai e kūkākūkā i nā pilikia me ke kauka a i ʻole ka mea hānau ma mua o ka noʻonoʻo ʻana i ka hāpai ʻana. E noʻonoʻo ʻia kou hāpai ʻana he "kūlana kiʻekiʻe" a e koi paha i kahi nānā kūikawā. ʻO kekahi o nā lāʻau i hoʻohana ʻia i ka mālama ʻana i ka maʻi Loeys-Dietz ʻaʻole pono e hoʻohana ʻia i ka wā o ka hāpai ʻana ma muli o ka pilikia o ka hānau hānau a me ka nalo ʻana o ka fetal.

Pehea e mālama ʻia ai ʻo Loeys-Dietz Syndrome?

I ka wā ma mua, he nui ka poʻe me ka maʻi Loeys-Dietz i kuhi hewa ʻia me ka maʻi ʻo Marfan. ʻIke ʻia i kēia manawa ʻo Loeys-Dietz Syndrome mai nā ʻano hoʻololi kūʻē ʻokoʻa a pono e hoʻokele ʻokoʻa. He mea nui e hui me ke kauka i kamaʻāina i ka maʻi o ka maʻi i mea e hoʻoholo ai i kahi hoʻolālā hoʻomalu.

ʻAʻohe mea ola no ka maʻi, no laila mālama ʻia ka lapaʻau i ka pale ʻana a me ka mālama ʻana i nā ʻōuli. Ma muli o ka makaʻu nui o ka haki, pono e ukali pono ʻia kekahi me kēia ʻano e kiaʻi ai i ka hoʻokumu ʻia o nā aneurysms a me nā pilikia ʻē aʻe. Aia pū paha ka nānā ʻana i:

• echocardiograms makahiki a i ʻole biannual
• angiography tomography pūnaewele makahiki (CTA) a i ʻole angiography resonance ʻume mākenēki (MRA)
• ʻiwi X ka iwi ʻiwi

Kaukaʻi ʻia i kāu mau ʻōuli, nā hana ʻē aʻe a me nā hana pale e komo pū paha:

• nā lāʻau e hoʻemi i ke kanana ma nā aʻa nui o ke kino ma o ka hōʻemi ʻana i ka helu o ka puʻuwai a me ke kahe o ke koko, e like me ka angiotensin receptor blockers a beta-blockers
• ʻoki kino e like me ka aortic root replacement a me ka hoʻoponopono arterial no aneurysms
• kapu hoʻoikaika kino, e like me ka hōʻalo ʻana i nā haʻuki hoʻokūkū, ka hoʻopili ʻana i nā haʻuki, ka hoʻoluhi a luhi, a me nā hana hoʻoikaika i nā mākala, e like me nā pushups, pullups, a me situp
• nā hana puʻuwai naʻau māmā e like me ka holo wāwae, kaʻa paikikala, jogging, a me ka ʻauʻau ʻana
• ʻoki kino orthopedic or bracing no nā scoliosis, deformities o ka wāwae, a i ʻole nā ​​ʻaelike
• lāʻau hoʻoweliweli a me ke kūkā ʻana me kahi mea ʻāpiki
• hoʻōla kino e mālama i ka paʻa ʻole o ka iwi maha
• ke kūkā ʻana me kahi nutristist no nā pilikia gastrointestinal

Lawe aku

ʻAʻohe o ʻelua mau kānaka me ka Loeys-Dietz Syndrome e loaʻa i nā ʻano like. Inā kānalua ʻoe a i ʻole kauka paha he Loeys-Dietz Syndrome ʻoe, koi ʻia ʻoe e hui me kahi genetistist i kamaʻāina me nā maʻi pili pili. Ma muli o ka ʻike ʻia o ka maʻi maʻi ma 2005, ʻaʻole paha ʻike ka nui o nā kauka. Inā loaʻa kahi hoʻololi kūʻē, ua manaʻo ʻia e hoʻāʻo hoʻi i nā lālā o ka ʻohana no ka hoʻololi like.

Ke aʻo hou nei ka ʻepekema e pili ana i ka maʻi, manaʻo ʻia e hiki i nā diagnoses ma mua ke hoʻomaikaʻi i nā hopena olakino a alakaʻi i nā koho lapaʻau hou.