Nui ko kākou hauʻoli ke nānā aku i nā maka o kahi pēpē hānau hou, ʻeā? Akā i kekahi manawa, kānalua iki paha kākou he hewa kekahi mea me kēlā mau maka. I kēia lā e kamaʻilio ana kākou e pili ana i kahi maʻi laha ʻole i kapa ʻia ʻo 'Norrie Disease', hiki ke hoʻopilikia ʻaʻole wale i ka ʻike o ke keiki, akā, i nā mea ʻē aʻe he nui. Mai makaʻu i kou lohe ʻana i kēia, e hoʻomaopopo maʻalahi kākou.
He aha ka maʻi Norrie? I ka pōkole...
He maʻi maka hoʻoilina ka maʻi Norris. Ma kēia, ʻo ka ʻāpana o ka maka o ka pēpē i kapa ʻia ʻo ka retina, a me nā kīʻaha koko e pili ana iā ia, ʻaʻole i ulu pono. Ua ʻike anei ʻoe he papa lahilahi ka retina ma ke kua o ko kākou mau maka e hana ana e like me ke kiʻiʻoniʻoni i loko o ke kāmela. ʻO kēia ka mea e ʻike ai i ka mālamalama a me ke kala a hoʻouna i nā leka i ka lolo, ʻo ia ka manawa a kākou e ʻike ai.
I loko o kahi pēpē me ka maʻi Norris, ʻaʻole i ulu pono ka retina, no laila hiki ke hemo mai ka maka. Hiki i kēia ke hoʻokahe i ke koko i loko o ka maka. ʻO kēia ke kumu o ka retina e lilo i fibrous a hiki ʻole ke hana pono. I nā hihia he nui, hiki i kēia kūlana ke kumu i ka pēpē e makapō loa i ka wā hānau a i loko o nā mahina mua o ke ola. ʻOiai hiki i kekahi mau pēpē ke ʻike i kekahi mālamalama i ka wā hānau, ʻo ka hapa nui e nalowale ka ʻike ma kekahi a i ʻole nā maka ʻelua i ka wā hānau.
ʻO ka mea nui, ʻo kēia hoʻololi ʻana o ka ʻike e hoʻopilikia ai i ka ʻike hiki ke hoʻopilikia i nā ulu kino ʻē aʻe o ke keiki. No laila, ʻaʻole i kaupalena ʻia ka maʻi ʻo Norrie i ka nalowale o ka ʻike.
He aha nā hōʻailona ʻē aʻe e ʻike ʻia ma ka maʻi ʻo Norrie?
ʻO ka nalowale o ka ʻike ka hōʻailona nui. Eia nō naʻe, hiki i nā pēpē me ka maʻi Norrie ke loaʻa i kēia mau mea:
- Ka hemahema o ka lohe: Hiki i ka maʻi Norris ke hoʻopilikia i ka ulu ʻana o ka pepeiao o loko. No laila, hiki ke hoʻomaka ka nalowale iki o ka lohe i ka wā kamaliʻi a piʻi mālie. Hiki iā ʻoe ke ʻike i ke kani ʻana o nā pepeiao (tinnitus). Hiki i kekahi poʻe ke emi nui ka lohe i ka hiki ʻana i 35 mau makahiki.
- Nā loli ʻano: Hiki i kēia kūlana ke hoʻopilikia i ke ʻano o ke keiki. No ka laʻana, ʻike ʻia kahi kūlana i kapa ʻia ʻo "Pseudobulbar affect" (paʻakikī i ka hoʻomalu ʻana i ka ʻakaʻaka a me ka uē ʻana) ma kahi o hoʻokahi o ka hapahā o ka poʻe me ka Norris syndrome.
- Nā lohi o ka ulu ʻana: Hiki i kekahi mau pēpē a me nā keiki ke lōʻihi ka manawa e hiki ai i nā pae holomua e like me ke noho ʻana a me ka hele ʻana.
- Ka maʻi autism spectrum: Ma kahi o hoʻokahi i loko o ʻehā mau kānaka me Norris syndrome e hōʻike i nā hōʻailona o ka autism.
- Nā maʻi hopu: ʻOiai ʻaʻole like me nā kūlana ʻē aʻe, hiki i hoʻokahi i loko o ʻumi mau kānaka ke loaʻa i nā maʻi hopu.
- ʻO ka maʻi vascular peripheral:Hiki i kekahi poʻe ke loaʻa nā pilikia o ke kahe koko, e like me nā ʻeha venous.
He mea nui: ʻAʻole e loaʻa i kēlā me kēia pēpē kēia mau hōʻailona āpau. Hiki i nā keiki i ka ʻohana hoʻokahi ke loaʻa nā hōʻailona like ʻole. No laila, pono kēlā me kēia keiki i ka mālama pilikino.
Pehea ka maʻamau o ka Norovirus? ʻO wai ka mea e loaʻa ai?
He maʻi laha ʻole ka maʻi Norris. Hoʻopilikia ia i hoʻokahi i loko o hoʻokahi miliona kānaka.
Hoʻopilikia nui kēia i nā keikikāne. Kākaʻikahi loa ka hoʻopilikia ʻia ʻana o nā kaikamahine e kēia maʻi. ʻOiai inā loaʻa iā lākou, he akahai loa nā hōʻailona. ʻAʻole ia he mea kūikawā i kekahi lāhui a i ʻole ka ʻano lāhui.
He aha nā hōʻailona e ʻike ai ke kauka i ka maʻi ʻo Norrie?
I ka wā o ka hoʻokolokolo maka, ʻike paha kekahi kauka maka i kekahi mau hōʻailona e pili ana i ka maʻi Nori. ʻO kēia mau mea:
- He puʻu melemele-hina ma ke kua o ka maka (Pseudoglioma). Hoʻokumu ʻia kēia e kahi retina i ulu ʻole.
- Ka hemo ʻana o ka retina.
- Ke keʻokeʻo ʻana o ka cornea o ka maka (Leukocoria).
- Ua hoʻonui ʻia ke apo ʻeleʻele ma ka maka.
- ʻO ka hypoplasia o Iris ka maʻi maʻamau ka ulu ʻole o ka iris.
- Hoʻopili ʻia ka cataract i ka lens a i ʻole ka cornea.
- Nā maka i ʻoi aku ka liʻiliʻi ma mua o ka nui maʻamau (Microphthalmia).
- Hoʻonui ʻia ke kaomi intraocular. Hiki i kēia ke hōʻeha i ka maka.
- Ke kahe koko ʻana o ka vitreous.
- Ke ao ʻana o ka lens o ka maka (cataract).
- Ka emi ʻana o ka maka me ka ʻike ʻole ʻia `(Phthisis bulbi)`.
ʻAʻole ʻike ʻia kēia mau hōʻailona a pau i ka manawa hoʻokahi. Hiki ke ʻike ʻia kekahi i ka wā hānau, aʻo kekahi e ʻike ʻia paha i nā mahina a i ʻole nā makahiki ma hope.
He aha nā hōʻailona e ʻike nei ke keiki?
Hiki ke ʻokoʻa loa nā hōʻailona o ka maʻi Norris ma muli o ke ʻano o ka maʻi. ʻO ka ʻeha o ka maka kahi hōʻailona maʻamau i kekahi mau pēpē ma muli o ka hoʻonui ʻia o ke kaomi i loko o ka maka, akā ʻaʻole kēia he mea maʻamau loa. I kekahi manawa, hiki i nā waihona calcium i loko o ka cornea o ka maka (band keratopathy) ke hōʻeha a me ka ʻoluʻolu ʻole. E nānā mau ke kauka maka o kāu keiki i ke kaomi i loko o ko lākou maka.
Hiki i nā hōʻailona ʻē aʻe ke pili i ka nalowale o ka lohe a me nā kūlana pili ʻē aʻe. E kamaʻilio me ka hui lapaʻau o kāu keiki e ʻike pono i nā hōʻailona āu e hopohopo ai.
He aha ke kumu o ka maʻi Norrie?
Hoʻokumu ʻia ka maʻi Norris e kahi hoʻololi genetic . ʻO ka gene kikoʻī e hoʻopilikia nei i kēia, ʻo ia ka gene NDP. Ke kuhikuhi nei kēia gene NDP i ko mākou kino e hana i kahi protein i kapa ʻia ʻo Norrin. He mea nui loa kēia protein Norrin no ka hōʻailona cell a me ka hoʻolaha ʻana o nā cell. Ma ke ʻano kūikawā, kōkua ʻo Norrin i ko mākou retina e ulu pono. Kōkua pū ia i ke kūkulu ʻia ʻana o nā kīʻaha koko e hoʻolako i ke koko i ka retina a me nā ʻāpana o ka pepeiao (Angiogenesis).
Ke loaʻa kahi mutation i loko o ka gene `NDP`, ʻaʻole hana pono ka protein Norrin. Hiki i kēlā mau mutation genetic ke hana i nā maʻi maka genetic like ʻole. ʻO ka maʻi Norrin ka mea koʻikoʻi loa o lākou.
Pehea i hoʻoilina ʻia ai ka maʻi Norrie?
Aia kēia gene `NDP` i hoʻololi ʻia ma ka chromosome X. E like me kou ʻike, ʻo X a me Y nā chromosome wahine ʻelua. Aia nā ʻano hoʻoilina like ʻole o nā maʻi. Hoʻoilina ʻia ka maʻi Norrie ma ke ʻano hoʻoilina X-linked recessive .
Hoʻopilikia pinepine kēia mau maʻi hoʻoilina i nā keikikāne. Kākaʻikahi loa ka hoʻopilikia ʻia ʻana o nā kaikamahine. ʻO kēia no ka mea hoʻokahi wale nō chromosome X a nā keikikāne. No laila, ua hoʻoilina paha lākou i hoʻokahi gene i hoʻololi ʻia e hoʻoulu ai i ka maʻi.
Inā he mea lawe ka makuahine i kēia gene i hoʻololi ʻia (ʻo ia hoʻi, aia kēia gene ma kekahi o kāna mau chromosome X ʻelua, akā ʻaʻohe ona hōʻailona, no ka mea, hana maikaʻi nā mea āpau mahalo i ka gene olakino ma ka chromosome X ʻē aʻe), aia he 50% ka manawa e loaʻa ai i kekahi keiki kāne āna i hānau ai ka maʻi ʻo Norrie. ʻAʻole hoʻoilina ke keiki kāne i kēia maʻi mai ka makuakāne.
Pehea e ʻike ʻia ai ka maʻi Norrie?
Eia ka hopena o ka maʻi Norwich i ʻike ʻia e kekahi kauka maka:
- Ma ka hana ʻana i kahi hoʻokolokolo maka piha a me ka hoʻokolokolo kino .
- Ma ka ʻike ʻana i ka mōʻaukala olakino ʻohana o kāu pēpē.
- Ma ke kauoha ʻana i ka hoʻāʻo genetic .
Pono nā kauka ophthalmologists e hoʻokaʻawale a ʻike i ka maʻi Nori mai nā kūlana ʻē aʻe me nā hōʻailona like, e like me:
- ʻO ka 'Retinoblastoma' (kahi puʻupuʻu kanesa e ulu ana i loko o ka retina)
- ʻO ka 'Retinopathy o ka hānau mua ʻana' (ka ulu kūpono ʻole o nā kīʻaha koko e hoʻolako koko i ka retina i nā pēpē hānau mua ʻole)
- ʻO ke kahe koko mau o ka ʻōpū
- ʻO ka maʻi ʻaʻahu
Aia kekahi mau maʻi vitreoretinopathy ʻē aʻe, ʻoi aku ka maʻalahi, ʻaʻole i hoʻopili ʻia me X (`(Familial exudative vitreoretinopathies)`) e pili ana i ka maʻi ʻo Norrie.
I kekahi manawa, hiki ke ʻike ʻia i ka wā hāpai ma o kahi hoʻāʻo e like me ka "Amniocentesis". ʻO kēia inā ua loaʻa i kekahi o ka ʻohana ka maʻi ʻo Norrie, a inā paha ua ʻike ʻia ka makuahine he mea lawe i ka hoʻololi ʻana o ka gene "NDP".
He aha nā lāʻau lapaʻau no ka maʻi Norrie?
Pono nā pēpē me ka maʻi ʻo Norrie i ka lāʻau lapaʻau i hoʻopilikino ʻia i ko lākou mau pono pilikino. Hiki ke komo pū nā koho lapaʻau:
- ʻOki kino: Hana ʻia ke ʻoki kino e kuhikuhi i nā kūlana kikoʻī, e like me ke cataracts. Hiki i kēia mau mea ke kōkua i ka pale ʻana i ka emi ʻana o nā maka o ka pēpē a me ka hōʻemi ʻana i ka ʻeha. Eia naʻe, ʻaʻole hiki ke hoʻihoʻi ʻia ka ʻike. I kekahi manawa, hānau ʻia nā pēpē me kahi retina i hemo a hiki ke ʻike i kekahi mālamalama. I ia mau hihia, hiki i ke ʻoki kino ke kōkua i ka mālama ʻana i kēlā hiki.
- Nā mea kōkua hoʻolohe: Kōkua kēia i nā keiki, nā ʻōpio, a me ka poʻe ʻelemakule e lohe maikaʻi i nā leo. He mea nui loa lākou no ka mea me ka nalowale o ka lohe e launa pū me ke ao nei.
- ʻO ke kāpili ʻana o ke kokoleka: Kōkua kēia iā ʻoe e lohe maopopo i nā huaʻōlelo a me nā leo ʻē aʻe.
I ka ulu ʻana o kāu pēpē, pono ʻo ia i ka mālama mau a me ka nānā ʻana. Pono kēia i kahi hui o nā loea like ʻole:
- Nā Kauka Lapaʻau Keiki
- Nā kānaka ʻepekema genetics
- Nā Kauka Maka
- Nā Kauka Hoʻolohe
- Nā mea lapaʻau ʻōlelo
Hiki i kāu keiki ke pōmaikaʻi mai nā lawelawe kākoʻo hoʻonaʻauao. He mea nui e kamaʻilio me ka luna hoʻomalu kula o kāu keiki e ʻike ai i nā kumuwaiwai i loaʻa.
He aha ka wā e hiki mai ana no ka poʻe me ka maʻi Norrie?
ʻO ka hapa nui o ka poʻe me ka maʻi Norris e lilo i makapō loa (ʻaʻole hiki ke ʻike i kekahi mālamalama) i loko o nā mahina 12 mua o ke ola. Ma kahi o hoʻokahi i loko o ʻelima mau kānaka e ʻike i kekahi mālamalama ma hope o 3 mau makahiki.
ʻO ka wā e hiki mai ana o kāu keiki ma muli o nā kumu he nui, me nā hōʻailona o ka maʻi e hoʻopilikia iā lākou a me ke koʻikoʻi o lākou. ʻO ka hui lapaʻau o kāu keiki ke kumu maikaʻi loa o ka ʻike e pili ana i ke ʻano o ka maʻi Norwich i kāu keiki a pehea e hiki ai iā ʻoe ke kōkua iā lākou e ʻoluʻolu.
Hiki ke pale ʻia ka Norovirus?
ʻAʻole hiki ke pale ʻia ka Norovirus. Inā loaʻa i kekahi o kou ʻohana ka Norovirus a i ʻole nā maʻi maka hānau ʻē aʻe, he manaʻo maikaʻi e noʻonoʻo i ke aʻoaʻo genetic ma mua o ka hāpai ʻana. Hiki i ke kākāʻōlelo genetic ke paipai i ka hoʻāʻo genetic e ʻike ai inā he mea lawe ʻoe i ka mutation gene NDP. Hiki i kēia mutation ke kumu i kāu keiki e loaʻa ai nā maʻi maka genetic like ʻole, me ka Norovirus.
Pehea lā wau e mālama ai i kaʻu keiki?
E haʻi aku ke kime lapaʻau o kāu keiki iā ʻoe pehea e mālama pono ai i kāu keiki ma ka home. ʻOkoʻa nā pono o kēlā me kēia keiki ma muli o ko lākou makahiki a me nā hōʻailona. Aia ma lalo iho kekahi mau ʻōlelo aʻoaʻo laulā e hiki ke kōkua i kāu keiki e hoʻokō i ko lākou hiki piha.
E hōʻoia e lawe i kāu keiki i nā manawa kauka.
He nui nā manawa i hālāwai ai kāu keiki me nā loea like ʻole. He mea nui kēia mau manawa e hōʻoia i ka loaʻa ʻana o ka mālama i kūpono i kā lākou mau pono ponoʻī.
- Hoʻokolokolo maka makahiki: ʻOiai inā ua nalowale nā ʻike maka a pau o kāu keiki, he mea nui e ʻike i ke kauka maka i hoʻokahi manawa i ka makahiki. E kōkua kēia i kāu keiki e ʻike inā he mau pilikia e hoʻoulu ai i ka ʻeha o ka maka a hāʻawi i ka lāʻau lapaʻau inā pono.
- Nā hoʻokolohua pepeiao i kēlā me kēia 6 a 12 mau mahina: Ma ka nānā mau ʻana i ka lohe o kāu keiki, hiki iā ʻoe ke loaʻa ka lāʻau lapaʻau i ka wā e pono ai. Hiki i kahi loea pepeiao ke ʻike i ka nalowale o ka lohe ma mua o ka puka ʻana o nā hōʻailona.
- Nā hālāwai e kōkua ai i nā wahi ʻē aʻe o ka ulu ʻana: Pono paha ke keiki e hālāwai me nā poʻe e like me nā mea hoʻoponopono ʻōlelo, nā limahana hana kaiaulu, a me nā psychologists.
- Nā koho ʻana i ke kauka pediatric: Pono ʻoe e ʻike pinepine i kahi kauka pediatric e nānā i ke olakino holoʻokoʻa o kāu keiki.
Mea nui: He mea nui loa e hana pū nā kauka a pau o kāu keiki a kaʻana like i ka ʻike.
Kōkua i ka mālama ʻana i ke ola o kēlā me kēia lā o ke keiki
Hiki i ka maʻi Norwich ke hoʻoulu i nā pilikia he nui i ke ola o ke keiki i kēlā me kēia lā.
- Moe a ala i nā manawa maʻamau: Hiki i nā keiki me ka maʻi celiac ke paʻakikī i ka hiamoe maikaʻi i ka pō. Hiki i kēia ke hoʻoluhi iā lākou i ke ao, huhū, a pilikia i ka noʻonoʻo ʻana i ka hana kula. Inā pilikia kāu keiki i ka hiamoe, e kamaʻilio me kāu pediatrician e pili ana i nā ala e kōkua ai.
- Ka launa pū ʻana: Ke ʻoi aku ka ʻino o ka nalowale o ka lohe o kāu keiki, hiki ke paʻakikī ke pāʻani me nā keiki ʻē aʻe a launa pū me ke ao nei. ʻIke nui ʻia kēia i ka wā ʻōpiopio. Hiki i ke keiki ke manaʻo ua kaʻawale a hōʻike paha i nā hōʻailona o ke kaumaha. Hiki iā ʻoe ke kōkua i kāu keiki ma ka hoʻolālā ʻana i nā hana pili kaiaulu ma nā wahi mālie me ka walaʻau liʻiliʻi.
- Mālama ʻana i nā mea kōkua hoʻolohe: He ʻāpana koʻikoʻi kēia o ka mālama ʻana. Eia nō naʻe, hiki i nā keiki ke nalowale a haki paha iā lākou. ʻAʻole maʻalahi ka mālama ʻana i nā lako lapaʻau kūikawā no kekahi keiki. Hiki i ka nalowale o ka lohe ke hoʻohui i kēia pilikia. I ka hiki, e aʻo i kāu keiki e mālama i kā lākou mau mea kōkua hoʻolohe a haʻi iā lākou e haʻi koke iā ʻoe inā loaʻa kekahi mea.
E mālama pono iā ʻoe iho.
Pono kāu keiki iā ʻoe, no laila he mea nui e mālama ʻoe iā ʻoe iho. He mea maʻamau no nā mākua a me nā mea mālama ke manaʻo ua kaumaha a luhi hoʻi. ʻOiai ʻaʻohe hopena maʻalahi i kēia, ʻo ka ʻae ʻana i kou manaʻo ke kaʻina mua i ka loaʻa ʻana o nā hopena.
- E kamaʻilio me kāu kauka e pili ana i kou manaʻo.
- E hui pū me kahi hui kākoʻo. Hiki i kēia ke kōkua iā ʻoe e hoʻopili me nā mākua i ke kūlana like me ʻoe.
- E noi i ke kōkua. Mai kānalua e noi i ke kōkua mai nā ʻohana, nā hoaaloha, a me nā hoalauna.
Nā inoa ʻē aʻe no ka maʻi Norwich
ʻO nā inoa ʻē aʻe no kēia ʻano:
- ʻO ka maʻi Anderson-Warburg
- ʻO ka maʻi ʻo Whitnall-Norman
- ʻO ka degeneration oculo-acoustico-cerebral holomua hānau
- ʻO ka maʻi ʻOligophrenia microphthalmos
- ʻO ka pseudoglioma hānau
ʻO ka mea hope loa, he aha e hoʻomanaʻo ai
He maʻi paʻakikī ka maʻi Norris e hoʻopilikia iki ana i kēlā me kēia kanaka. ʻO ia hoʻi, he mea paʻakikī ke ʻike pono i ka mea e manaʻo ai ke ʻike ʻia kāu keiki me ia. ʻO ka hōʻuluʻulu ʻana i kahi hui lapaʻau e kākoʻo i kāu keiki hiki ke kōkua iā ʻoe e neʻe i mua. E nīnau i nā nīnau e loaʻa ai ka ʻike āu e pono ai, a mai kānalua e hōʻike i kou hopohopo. ʻAʻole ʻoe hoʻokahi.
ʻO ka maʻi Norrie, ka maʻi maka genetic, ka ʻike o ke keiki, ka makapō, ka hemahema o ka lohe, ka lohi o ka ulu ʻana, ke aʻo ʻana i nā genetics
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