He lauoho ʻōniʻoniʻo ko kāu keiki liʻiliʻi? E aʻo kākou e pili ana i ka maʻi Menkes!

Ua ʻike anei ʻoe he ʻano ʻē loa ka lauoho o kāu pēpē liʻiliʻi, ʻōwili e like me ka uea, māmā ke kala, a haki maʻalahi? A i ʻole ke ʻano o ke kino o kāu pēpē he palupalu loa a anuanu? ʻOiai he mau mea kēia a mākou e nānā ʻole ai i kekahi manawa, hiki iā lākou ke lilo i mau hōʻailona mua o kekahi mau maʻi laha ʻole. No ka laʻana, ʻo kahi maʻi e hiki ke loaʻa i nā pēpē, akā ʻaʻole i kamaʻilio nui ʻia, ua kapa ʻia ʻo Menkes Disease. E kamaʻilio kākou e pili ana i kēia me nā kikoʻī hou aku i kēia lā.

He aha ka maʻi Menkes? I ka pōkole...

He maʻi hoʻoilina ka maʻi Menke. ʻO ia hoʻi, ua hānau ʻia kahi pēpē me ia. ʻO ka mea e hana ʻia ma kēia, ʻaʻole hiki i ke kino ke hoʻohana pono i ka meaʻai keleawe koʻikoʻi. I kēia manawa ke noʻonoʻo nei paha ʻoe, "He aha ke keleawe?" ʻOiaʻiʻo, ʻo ke keleawe kekahi mea e kōkua ai i nā ʻōnaehana koʻikoʻi he nui i loko o ko mākou kino e hana pono. E noʻonoʻo e pili ana:

• Pono kā mākou ʻōnaehana nerve (ʻo ia hoʻi, ka lolo a me nā aʻalolo e holo ana ma ke kino holoʻokoʻa) e hana pono.
• E hoʻoikaika i ko kākou mau iwi .
• I ola kino ko kākou lauoho a me ko kākou ʻili .
• Pono ko kākou mau kīʻaha koko (kahi e kahe ai ke koko) e hana pono.

He mea nui ke keleawe no kēia mau mea a pau. No laila, ʻoiai ʻaʻole hoʻohana pono ke kino o kahi pēpē me ka maʻi Menkes i kēia keleawe, hiki iā ia ke hōʻeha nui, ʻoiai hoʻi i ka ʻōnaehana nerve. ʻO kēia ke kumu o ka ulu ʻana o ka pēpē e palupalu a nāwaliwali ke kino. ʻO ka mea kaumaha, hiki i kēia maʻi ke hoʻoweliweli i ke ola .

I loko o kēia maʻi, lilo ka lauoho o ke pēpē i ʻano ʻōniʻoniʻo a like me ka uea, no laila ua kapa ʻia ia e kekahi poʻe he "maʻi lauoho kinky."

ʻO ka mea nui, ʻaʻohe lāʻau lapaʻau piha no kēia. Eia nō naʻe, inā hoʻomaka ʻia ka lāʻau keleawe i loko o nā pule ʻehā mua o ka hānau ʻana o ka pēpē, hiki ke hōʻoluʻolu i nā hōʻailona a hoʻolōʻihi iki i ke ola o ka pēpē. No laila, he mea nui loa ka ʻike mua ʻana.

Pehea ka maʻamau o ka maʻi Menkes?

Ma ke ao holoʻokoʻa, ua manaʻo mua ʻia ma kahi o hoʻokahi i loko o 100,000 mau pēpē hānau hou e loaʻa i kēia maʻi. ʻO ia hoʻi ma kahi o hoʻokahi i loko o ʻelua a me ka hapa miliona.

Eia nō naʻe, ua ʻike ʻia kahi noiʻi hou i mālama ʻia i ka makahiki 2020 me ka hoʻohana ʻana i ka ʻikepili mai ka Genome Aggregation Database e hiki ke kiʻekiʻe loa kēia helu. No laila, ua ʻōlelo ʻia he hoʻokahi i loko o 8,664 mau keiki kāne ma ʻAmelika Hui Pū ʻIa wale nō, a i ʻole ma kahi o 225 mau pēpē i kēlā me kēia makahiki, e loaʻa paha kēia maʻi.

Inā hoʻomohala ʻia nā ʻano loiloi no nā pēpē hānau hou i ka wā e hiki mai ana, e hōʻoia hou ʻia kēia mau helu helu a e hiki ke ʻike mua i ka maʻi a hoʻomaka i ka lāʻau lapaʻau.

ʻO wai ka mea i loaʻa pinepine i kēia maʻi?

ʻOi aku ka maʻamau o ka maʻi Menkes i nā keikikāne.ʻO ia ka mea e hoʻopilikia nui loa. Akā hiki iā ia ke hoʻopilikia i kekahi lāhui, i kēlā me kēia hui lāhui.

He aha nā hōʻailona o ka maʻi Menkes?

Hiki i nā pēpē me ka maʻi Menkes ke hānau mua ʻia i kekahi manawa. Hiki ke ʻike ʻia he olakino maikaʻi lākou i ka wā hānau.

Eia nō naʻe, hoʻomaka nā hōʻailona mua e ʻike ʻia ma kahi o 2 a 3 mau mahina o ka makahiki . Eia nā:

• ʻO ka lauoho ʻōniʻoniʻo kahi ʻano lauoho ʻōwili, wili, a ʻāwili. He māmā loa ke kala o kēia lauoho, i kekahi manawa keʻokeʻo a hina paha. He maʻalahi hoʻi ka haki ʻana.
• Ka emi ʻana o ke kani o nā ʻiʻo (Hypotonia): ʻO ke ʻano kēia ua palupalu loa ke kino o ke pēpē. Me he mea lā ua make.
• Haʻahaʻa o ke kino (Hypothermia): Manaʻo ke kino o ke pēpē i ke anu i nā manawa a pau.
• Ke kūlou nei ke ʻano o ka maka .
• Nā hōʻailona o ka maʻi epilepsy (nā hopu ʻana/epilepsy) , ʻo ia hoʻi, nā kūlana e like me ka hopu ʻana.
• ʻAʻole ulu pono ka pēpē: ʻAʻole ulu pono ka pēpē a ʻaʻole hoʻi e piʻi ana ke kaumaha .
• Melemele o ka ʻili a me nā maka (jaundice).

ʻAʻole ʻike ʻia kēia mau hōʻailona i kēlā me kēia pēpē i ka manawa like. I kekahi manawa, ʻoiai he kakaikahi loa, hiki ke ʻike ʻia kēia mau hōʻailona ma hope o ka wā kamaliʻi a i ʻole i ka wā ʻōpio.

He aha nā pilikia e hiki ke loaʻa mai ka Menkes Syndrome?

ʻO ka Menkes Syndrome kahi maʻi neurodegenerative e hoʻopau mālie i ka ʻōnaehana nerve . ʻO ia hoʻi, i ka hala ʻana o ka manawa, ulu nā pilikia noʻonoʻo i loko o ka lolo a me nā mākau noʻonoʻo. Hiki i nā keiki a me nā pākeke me kēia maʻi ke loaʻa nā pilikia e like me:

• Nā pilikia e like me ke kahe koko o ka lolo (subdural hematomas) .
• ʻO Diverticulosis ka ulu ʻana o nā ʻeke liʻiliʻi e puka mai ana mai nā paia o ka ʻōpū a i ʻole ka ʻōpū mimi.
• Ke hoʻokumu ʻia ʻana o nā iwi liʻiliʻi loa (nā iwi Wormian) i loko o ke poʻo.
• Ka nalowale ʻana o nā mākau neʻe .
• ʻO ka Osteoporosis kahi maʻi e hoʻonāwaliwali ai a palupalu ai nā iwi , e maʻalahi ai ka haki ʻana.
• ʻO ka maʻi tortuosity arterial .

Aia kekahi mea nui e ʻōlelo ʻia ma ʻaneʻi. I kekahi manawa, ke kahe ke koko o ka lolo o kahi pēpē a i ʻole nā ​​iwi haki, manaʻo paha nā kauka e hana ʻino ʻia ana ke keiki. Inā ʻike ʻoe aia kāu keiki i kahi palekana, akā ke hōʻike nei lākou i kēia mau hōʻailona, ​​e kamaʻilio pono me kāu kauka a kūkākūkā e hoʻāʻo ʻia no ka maʻi Menkes.

He aha ka Occipital Horn Syndrome (OHS)?

ʻO ka Occipital Horn Syndrome (OHS) kahi ʻano maʻalahi o ka maʻi Menkes.ʻO ke ʻano kēia, ʻaʻole koʻikoʻi loa nā hōʻailona. Hoʻomaopopo pinepine ʻia ia i ka wā he 5 a 10 mau makahiki o ke keiki.

Ma waho aʻe o nā hōʻailona ʻoluʻolu o ka maʻi Menkes, hiki i nā keiki me OHS ke ʻike pū i:

• Nā pepeiaohao Occipital: He mau ʻano like me ka pepeiaohao kēia i hana ʻia e nā waihona calcium ma ke kumu o ke poʻo.
• Dysautonomia: He pilikia me ka ʻōnaehana nerve e hoʻopilikia ai i nā mea e like me ke koko a me ke kaulike o ke kino.
• Ka wehe ʻana o ke hono a me ka ʻili.
• Nā pilikia liʻiliʻi me ka hiki ke noʻonoʻo.

He aha ke kumu o ka maʻi Menkes?

E like me kā mākou i ʻōlelo ai ma mua, he maʻi hoʻoilina ka maʻi Menkes. ʻO ia hoʻi, aia ia i ka wā hānau. Ma kahi o ʻelua hapakolu o nā hihia, ua hoʻokumu ʻia e kahi gene hewa i hoʻoilina ʻia mai ka makuahine . Ma kahi o hoʻokahi hapakolu o nā hihia, ua hoʻokumu ʻia ka maʻi e nā mutations hou i loko o ka gene i kapa ʻia ʻo ATP7A.

ʻO ke kumu o kēia maʻi ua kapa ʻia ʻo 'ATP7A', ka mea e hoʻopilikia ai i ka hana ʻana o kahi protein e kāohi ana i ka nui o ke keleawe i loko o ko mākou kino. No laila, ke hana pono ʻole kēia kumu 'ATP7A', ʻaʻole hiki i ko mākou kino ke 'lawe' pono i ke keleawe.

ʻOi aku ka nui o ka hiki i nā keikikāne ke hoʻoilina i kēia gene no ka mea he maʻi genetic X-linked ka Menkes Syndrome. Hoʻokahi chromosome X ko nā keikikāne. No laila, inā he gene kīnā ma luna, e ulu ka maʻi. ʻElua chromosome X ko nā kaikamahine, no laila no ka ulu ʻana o ka maʻi, pono e hoʻoilina ʻia nā gene kīnā ʻelua.

Pehea e ʻike ai nā kauka i ka maʻi Menkes?

No ka ʻike ʻana i ka maʻi Menkes, e nānā mua ke kauka i ke keiki. Ma ke ʻano kūikawā, e nānā lākou i ka lauoho palupalu a ʻōwili . E nīnau pū lākou e pili ana i nā hōʻailona a me ka mōʻaukala olakino ʻohana. Hiki ke hoʻāʻo ʻia ke keiki no:

• Nā hoʻāʻo koko: Lawe ʻia kahi hāpana koko e nānā i nā pae haʻahaʻa o ke keleawe, ceruloplasmin (kahi protein e lawe ana i ke keleawe), a me nā catecholamines, nā hormones e kōkua i ka kaohi ʻana i ka neʻe ʻana o nā ʻiʻo a me nā manaʻo.
• CT scan a i ʻole X-ray: E nānā kēia i nā iwi liʻiliʻi a wili ʻia (nā iwi wormian) i loko o ke poʻo o ke keiki. Hoʻokumu ʻia kēia e nā pilikia me nā ʻiʻo pili i hoʻokumu ʻia e ka nele o ke keleawe.
• ʻO ka biopsy ʻili: Lawe ʻia kahi ʻāpana liʻiliʻi loa o ka ʻili o ke keiki a nānā ʻia ma lalo o kahi microscope e nānā i ka maikaʻi o ka hoʻohana ʻana o ke kino o ke keiki i ke keleawe.
• Ultrasound: Hoʻohana ʻia kēia e nānā i ka ʻōpū mimi. ʻO Diverticula, ʻo ia hoʻi nā ʻeke e puka mai ana mai ka ʻōpū mimi, he pilikia maʻamau ia o Menkes Syndrome.
• Hoʻāʻo mimi: Nānā kēia hoʻāʻo no ka piʻi ʻana o nā pae o kekahi mau waikawa (HVA/VMA) i loko o ka mimi. ʻOkoʻa ka nui o kēia mau waikawa ma muli o ka hana o kahi enzyme e hilinaʻi ana i ke keleawe.

Hiki i kaʻu keiki ke hana i kahi hoʻokolohua genetic no ka maʻi Menkes?

Ke hoʻāʻo nei nā kānaka noiʻi e ʻimi i nā ala hou e ʻike mua ai i ka maʻi Menkes. ʻO ka hoʻāʻo ʻana i ka genetic e ʻimi ana i nā mutations i loko o ka gene ATP7A kekahi ala e hana ai i kēia.

Pehea e mālama ai nā kauka i ka maʻi Menkes?

I mea e pono ai ka lāʻau lapaʻau, pono e hoʻomaka ʻia i loko o 25 a 28 mau lā o ka hānau ʻana . Aia ka holomua o ka lāʻau lapaʻau i ke koʻikoʻi o ka mutation i loko o ka gene `ATP7A`.

Hāʻawi nā kauka i nā keiki me ka maʻi Menkes i kahi pani keleawe i kapa ʻia ʻo ke keleawe histidine ma ke ʻano he inikini subcutaneous . ʻO ka pahuhopu o kēia lāʻau lapaʻau ka hoʻonui ʻana i ka nui o ke keleawe i loko o ke koko. Hiki iā ia ke kōkua i ka hōʻemi ʻana i ka hōʻino ʻana i ka ʻōnaehana nerve, hōʻemi i nā kūlana e like me nā hopu ʻana, a hoʻolōʻihi i ke ola o ke keiki.

Pehea e hiki ai iaʻu ke mālama i nā hōʻailona o kaʻu keiki?

No ka mea, ʻaʻohe lāʻau lapaʻau no ka maʻi Menkes, ke nānā nei nā kauka i ka hoʻokele ʻana i nā hōʻailona. Hiki i ke kime lapaʻau e mālama nei i kāu keiki ke hana i nā mea e like me:

• Ke kuhikuhi ʻana i nā lāʻau lapaʻau e kāohi ai i ka hopu ʻana.
• ʻO ka meaʻai enteral ka hānai ʻana i ka meaʻai ma o kahi ʻōmole e kōkua i ke keiki e omo maikaʻi i nā meaola.
• Ke paipai nei i ka hoʻoikaika kino a i ʻole ka hoʻoikaika hana .
• Ke kuhikuhi ʻana i nā lāʻau ʻeha .

He aha ka wā e hiki mai ana no ka poʻe me ka maʻi Menkes?

Inā ʻaʻole e hoʻomaka koke ʻia ka lāʻau lapaʻau, ʻo ka maʻamau, ʻaʻole e ola nā keiki me ka maʻi Menkes ma mua o ʻekolu mau makahiki .

ʻOiai me ka mālama ʻia ʻana, hiki i nā hōʻailona o ka maʻi Menkes ke ʻoi aku ka ʻino i ka hala ʻana o ka manawa. ʻOiai nā keikikāne me ke ʻano i loaʻa ka mālama ʻia e ola paha no 10 mau makahiki a i ʻole ka liʻiliʻi.

Hiki ke pale ʻia ka maʻi Menkes?

ʻO ka mea pōʻino, ʻaʻole hiki ke pale ʻia ka maʻi Menkes. Inā he lālā o kou ʻohana a keiki paha me kēia maʻi, he mea nui e kamaʻilio me ke kauka a loaʻa ka ʻōlelo aʻoaʻo genetic .

Ma mua o kou hāpai ʻana, hiki iā ʻoe ke hana i kahi hoʻāʻo genetic (Genetic testing / DNA test) e ʻike ai inā loaʻa iā ʻoe ka gene e hoʻoulu ai i ka maʻi Menkes. Hiki i kēia ʻike ke kōkua iā ʻoe i ka wā e hoʻolālā ai i kahi ʻohana.

I ka manawa hea ʻoe e ʻike ai i ke kauka no ka maʻi Menkes?

Inā manaʻo ʻoe he mau hōʻailona ko kāu keiki o ka maʻi Menkes, e ʻike koke i ke kauka . Hiki i ka ʻike mua ʻana ke hoʻomaikaʻi i ke ʻano o ke ola no nā keiki me kēia maʻi.

Ma muli o ka hoʻoilina ʻia ʻana o ka maʻi Menkes ma o ka X-chromosome, hiki i nā wāhine ke hana i kahi hoʻāʻo DNA e ʻike ai inā loaʻa iā lākou ka gene e hoʻoulu ai i ka maʻi. He manaʻo maikaʻi e kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i nā genetics ma mua o ka loaʻa ʻana o nā keiki.

Inā loaʻa i kāu keiki ka maʻi Menkes, e kamaʻilio me kāu kauka e pili ana i nā ala maikaʻi loa e hoʻokele ai i nā hōʻailona a hoʻomaikaʻi i kou ʻano ola. ʻOiai ʻaʻohe lāʻau lapaʻau no ka maʻi Menkes, ke hana ikaika nei nā kauka e ʻimi i nā ala hou e ʻike ai a mālama i ke ʻano. Eia kekahi, ʻo ka hui pū ʻana me nā hui kākoʻo no nā mākua o nā keiki me ka maʻi Menkes he ala maikaʻi loa ia e kaʻana like i nā ʻike a loaʻa ka hōʻoluʻolu.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

ʻAe, e hōʻuluʻulu kākou i kekahi o nā mea e pono ai ʻoe e hoʻomanaʻo mai nā mea a mākou i kamaʻilio ai:

• ʻO ka maʻi Menkes kahi maʻi hoʻoilina e hoʻohana ʻole ai ke kino i ke keleawe me ka pono.
• ʻOi aku ka maʻamau o kēia i nā keikikāne .
• Inā ʻano ʻē ka wili ʻana o ka lauoho o kāu pēpē, ua lilo i kala māmā, ua palupalu, a ua lohi paha ka ulu ʻana, e ʻimi koke i ke kōkua lapaʻau.
• He mea nui loa ka ʻike ʻana i ka maʻi a hoʻomaka i ka lāʻau lapaʻau i ka wā mua . ʻOi aku ka maikaʻi inā hoʻomaka ka lāʻau lapaʻau i loko o nā pule 4 mua o ka hānau ʻana.
• ʻOiai ʻaʻohe lāʻau lapaʻau piha, aia nā lāʻau lapaʻau e kaohi i nā hōʻailona a hoʻolōʻihi i ke ola .
• Inā he moʻolelo ʻohana kou o kēia mau maʻi, he mea naʻauao ke ʻimi i ka ʻōlelo aʻoaʻo genetic .

Manaʻolana wau he kōkua kēia ʻike iā ʻoe. Inā he kānalua kāu, ʻaʻole loa e lohi ke kamaʻilio me ke kauka.

ʻO ka maʻi Menkes, Keleawe, Nā maʻi genetic, Nā maʻi pediatric, ʻōnaehana nerve, Lauoho ʻōwili, ATP7A