Ke nānā aku nei paha ka ʻōpū o kāu keiki liʻiliʻi i ka pehu iki? A i ʻole ke manaʻo nei ʻoe ʻaʻole e ulu ana kāu keiki i ka wikiwiki kūpono no ko lākou mau makahiki? I kekahi manawa hiki ke maʻamau kēia mau mea. Akā, he mea kākaʻikahi loa, hiki ke hoʻokumu ʻia e kahi maʻi genetic laha ʻole a mākou i lohe ʻole ai. I kēia lā, ke kamaʻilio nei mākou e pili ana i ka maʻi Niemann-Pick, nona kekahi o kēlā mau maʻi laha ʻole. Mai makaʻu i kou lohe ʻana i kēia inoa. E kamaʻilio kākou e pili ana iā ia ma ke ʻano maʻalahi hiki iā ʻoe ke hoʻomaopopo.
He aha ka maʻi Niemann-Pick?
I ka ʻōlelo maʻalahi, ʻo ka maʻi Niemann-Pick kahi maʻi hoʻoilina i loaʻa mai ka hōʻiliʻili pono ʻole o nā mea momona, a i ʻole lipids, i loko o nā hunaola o ko kākou kino.
I kēia manawa ke noʻonoʻo nei paha ʻoe, "He aha kēia mau lipids? No ke aha lākou e hōʻiliʻili ai?" E wehewehe kākou i kēia ʻano.
E noʻonoʻo i kēlā me kēia cell i loko o ko kākou kino e like me kahi hale hana liʻiliʻi. Pono kēia hale hana i ka ikehu e hana. Loaʻa kēlā ikehu mai ka meaʻai a kākou e ʻai ai. Hoʻokaʻawale ʻia nā momona (lipids) a me nā protein i loko o kēia mau meaʻai i mau ʻāpana liʻiliʻi i loko o kā kākou mau cell a hoʻohana ʻia e hana i ka ikehu. Eia kekahi, pono kēia mau lipids (no ka laʻana, cholesterol a me nā aila) no nā hana koʻikoʻi he nui, e like me ke kūkulu ʻana i nā paia o kā kākou mau cell a me ka hana ʻana i nā hormones.
ʻO ka maʻamau, i loko o ke kino o ke kanaka olakino, ke hoʻohana ʻia kēia mau lipids, a inā he nui loa, aia nā enzymes kūikawā e wāwahi iā lākou a wehe iā lākou mai ke kino. E like me kahi ʻōnaehana e wehe i nā ʻōpala mai kahi hale hana ke pau ka hana ʻana.
Akā i loko o ke kanaka me ka maʻi Niemann-Pick, aia kahi kīnā genetic i ka hana ʻana o nā enzymes a i ʻole nā protein e wāwahi i nā lipids aʻu i ʻōlelo ai. ʻO ka hopena, hoʻomaka nā lipids pono ʻole e hōʻiliʻili i loko o nā cell. Ua like ia me kahi puʻu ʻōpala i loko o kahi hale hana me kahi ʻōnaehana hoʻolei ʻōpala i haki.
Ma kēia ʻano, ʻaʻole e hōʻiliʻili wale nā lipids ma kahi hoʻokahi.
- lolo
- Ake
- ʻŌpū
- Nā māmā
- ʻIwi iwi
Hoʻākoakoa kēia mau mea i loko o nā pūnaewele o nā ʻōkana koʻikoʻi e like me ka puʻuwai. I ka hala ʻana o ka manawa, hoʻākoakoa kēia mau lipid a pale i kēlā mau ʻōkana mai ka hana pono ʻana. ʻO ia ka manawa e hoʻomaka ai nā hōʻailona e ʻike ʻia.
He aha nā hōʻailona nui o kēia maʻi?
Hiki ke ʻokoʻa nā hōʻailona ma muli o ke kino i waiho ʻia ai kēia mau lipid. ʻOkoʻa nō hoʻi nā hōʻailona ma muli o ke ʻano o ka maʻi. Eia nō naʻe, aia kekahi mau hōʻailona maʻamau.
Nā Hōʻailona Neurological
ʻIke ʻia kēia mau hōʻailona ke waiho ʻia nā lipids i loko o nā hunaola o ka lolo.
- ʻAtaxia: He kūlana kēia i hiki ʻole ai i nā ʻiʻo o ke kino ke kāohi i nā neʻe ʻana i manaʻo ʻia, e like me ka hele wāwae a i ʻole ka ʻō ʻana i kahi mea. Manaʻo ke kino he kūpaʻa ʻole a paʻa ʻole.
- Nāwaliwali o nā ʻiʻo:Ua manaʻo ke kino ua make, a ua emi iho ke ʻano o nā ʻiʻo.
- Spasticity: I kekahi manawa e ʻoʻoleʻa nā ʻiʻo a hiki ke wili. Lilo ka neʻe ʻana i mea paʻakikī loa.
- Paʻakikī i ka ʻōlelo ʻana: Hua ʻōlelo hūpō, ʻaʻole hiki ke ʻōlelo maopopo.
- Ka emi mālie ʻana o ka hana o ka lolo: Hiki i nā mea e like me ka hoʻomanaʻo a me ka hiki ke aʻo ke emi iho i ka hala ʻana o ka manawa.
Nā hōʻailona e pili ana i nā ʻāpana ʻē aʻe o ke kino
- Ka pehu ʻana o ke akepaʻa a me ka spleen: ʻO kēia kekahi o nā hōʻailona mua e ʻike ʻia. Hoʻonui ʻia kēia mau ʻōkana ʻelua ma muli o nā waihona lipid. ʻO kēia ke kumu o ka ʻōpū o ke keiki e puka i mua a lilo i ʻano pehu.
- Paʻakikī i ka moni ʻana a me ka inu ʻana: Hoʻopilikia nui kēia ʻano i nā keiki ʻōpio.
- Nā loli i nā neʻe ʻana o nā maka: Hiki ke paʻakikī ke nānā i luna a i lalo.
- Nā loli o ka Cornea: Hiki ke lilo ka cornea i ao.
- ʻUlaʻula ʻulaʻula: He hōʻailona kikoʻī loa kēia. Ke nānā ke kauka i ka maka, ʻike paha lākou i kahi ʻulaʻula e like me ka ʻulaʻula ma waenakonu o ka retina. ʻAʻole kēia e hana i nā mea āpau, akā hana kekahi mau maʻi.
ʻO ka mea nui, ʻaʻole e ʻike koke ʻia kēia mau hōʻailona. Hoʻomohala mālie lākou, liʻiliʻi. No laila, inā he kānalua kou, he mea nui loa e ʻike koke i ke kauka kūpono a ʻimi i ka ʻōlelo aʻo.
ʻEkolu ʻano nui o kēia maʻi.
ʻAʻole like nā maʻi Niemann-Pick a pau. ʻEkolu mau ʻano nui (a ʻoi aku ka nui ma kekahi mau hoʻokaʻawale ʻana). He ʻokoʻa nā kumu, nā hōʻailona, a me ke ʻano o ka maʻi o kēlā me kēia ʻano. E hoʻohana kākou i kahi papa e kōkua iā kākou e hoʻomaopopo i nā ʻokoʻa.
| ʻAno maʻi | Nā hiʻohiʻona nui a me ke ʻano | Kumu |
|---|---|---|
| ʻAno A |
| ʻAʻole lawa ka hana o ka enzyme sphingomyelinase. Hoʻopau kēia enzyme i ka lipid sphingomyelin. |
| ʻAno B | ʻO ke kumu like me ke ʻano A. ʻO ia hoʻi, ua emi ka hana o ka enzyme sphingomyelinase. Eia nō naʻe, i kēia hihia, i hoʻohālikelike ʻia me ke ʻano A, aia nō kekahi hana o ka enzyme. | |
| ʻAno C | ʻAʻole he enzyme ke kumu. He hemahema ia i kekahi o nā protein ʻelua i kapa ʻia ʻo NPC1 a i ʻole NPC2. Hāpai kēia mau protein i ka cholesterol a me nā lipid ʻē aʻe i loko o nā cell. |
He memo iki e pili ana i ke ʻano D
I ka wā ma mua, ua kapa ʻia nā maʻi me ke ʻano C, i iho mai kahi kūpuna ma ka ʻāina ʻo Nova Scotia o Kanada, ʻano D. Akā ua ʻike mākou i kēia manawa he ʻano ia no ke ʻano C, a ua hoʻokumu ʻia e kahi kīnā kikoʻī i ka gene NPC1.
Aia kekahi lāʻau lapaʻau no kēia?
He mea nui loa ka ʻike ʻana i ka pane i kēia nīnau nou a me nā mea a pau. ʻO ka ʻoiaʻiʻo, a hiki i kēia manawa, ʻaʻohe lāʻau lapaʻau no ka maʻi Niemann-Pick.
No laila he aha ka hana a nā kauka?
He lapaʻau kākoʻo nā lāʻau lapaʻau o kēia manawa. ʻO ia hoʻi, ʻoiai ʻaʻole hiki ke ho'ōla ʻia ka maʻi, ke kāohi nei lākou i nā hōʻailona, hāʻawi i ka mea maʻi i ka ʻoluʻolu e like me ka hiki, a kōkua i ka maʻalahi o ke ola.
- Ka palekana mai nā maʻi: ʻO kēia mau maʻi, ʻoi aku hoʻi nā keiki, he maʻalahi lākou i nā maʻi pinepine. No laila, he mea nui loa ia e pale iā lākou mai nā maʻi e like me ka niumonia.
- ʻAi: Pono paha e hānai ʻia nā keiki i pilikia i ka ale ʻana ma o kahi ʻōmole hānai.
- Physiotherapy: Hiki i nā hana hoʻoikaika kino a me nā lāʻau lapaʻau kino ke kōkua i ka mālama ʻana i ka ʻoʻoleʻa o nā ʻiʻo (spasticity) a mālama i ka hana o nā hono.
- Lapaʻau no nā pilikia hanu: Inā pilikia nā māmā, e like me nā maʻi ʻano B, pono paha ka oxygen hou.
Nā lāʻau lapaʻau hoʻokolohua
- Hoʻoili iwi iwi: Ua hoʻāʻo ʻia kēia i kekahi mau maʻi me ke ʻano B, akā ʻaʻole ia he lāʻau maʻamau.
- ʻO ka lāʻau hoʻololi enzyme a me ka lāʻau gene: Manaʻolana nā kānaka ʻepekema e loaʻa ana kekahi pono o kēia mau lāʻau lapaʻau i nā maʻi ʻano B i ka wā e hiki mai ana, akā aia nō kēia mau mea i ke kahua noiʻi.
Manaʻo ka poʻe he nui ma ka kaohi ʻana i kā lākou ʻai a me ka hōʻemi ʻana i kā lākou ʻai ʻana i nā meaʻai momona, hiki iā lākou ke hoʻōki i ka hōʻiliʻili ʻana o kēia mau lipids. Akā ʻo ka ʻoiaʻiʻo, ʻaʻole hiki i ka hoʻololi ʻana i kā lākou ʻai ke hoʻōki i ka hōʻiliʻili ʻana o nā lipids i loko o nā cell. No ka mea, ʻaʻole ka pilikia i loko o nā momona i hoʻopau ʻia mai waho, akā i loko o kahi kaʻina hana e hana ʻia i loko o nā cell ma muli o kahi kīnā genetic i loko o ke kino.
He aha kāu e ʻōlelo ai e pili ana i ka wā e hiki mai ana? (Wānana)
He kumuhana koʻikoʻi loa kēia e kamaʻilio ai. ʻO ka wā e hiki mai ana o ka mea maʻi, a i ʻole ka wānana, e hilinaʻi wale ʻia ana i ke ʻano o ka maʻi.
- ʻAno A: E like me ka mea i ʻōlelo ʻia ma mua, ʻo kēia ke ʻano koʻikoʻi loa. ʻO ka maʻamau, make nā pēpē me kēia maʻi i ka wā kamaliʻi, ma mua o 2-3 mau makahiki, ma muli o ka maʻi a i ʻole ka hana pono ʻole o ka ʻōnaehana nerve.
- ʻAno B: Hiki i kēia mau maʻi ke ola lōʻihi. Ola kekahi a hiki i ka wā makua. Eia nō naʻe, ma muli o ka hōʻino ʻia o ka māmā, pono paha lākou i ka nānā ʻana o ke kauka no ke ola holoʻokoʻa a i kekahi manawa ke kākoʻo oxygen.
- ʻAno C:He mea paʻakikī loa ke wānana i ka wā e hiki mai ana o kēia maʻi, no ka mea, ʻokoʻa loa ka makahiki e ʻike ʻia ai nā hōʻailona a me ke ʻano o ka maʻi mai kēlā kanaka a kēia kanaka. Make kekahi mau keiki i ka wā ʻōpiopio, ʻoiai ʻo ka poʻe me nā hōʻailona lohi a me nā hihia ʻoi aku ka koʻikoʻi hiki ke ola a hiki i ka wā makua.
Leka Lawe-Home
- He maʻi laha ʻole ka maʻi Niemann-Pick, he maʻi hoʻoilina i hoʻoilina ʻia e hoʻoulu ai i ka hōʻiliʻili ʻana o nā mea momona (lipids) i loko o nā hunaola o ke kino.
- ʻEkolu ʻano nui o kēia (A, B, a me C). ʻO ke ʻano A ka mea koʻikoʻi loa. Hoʻopilikia nui ke ʻano B i nā māmā a me ke akepaʻa, ʻoiai ʻo ke ʻano C e hoʻopilikia nui i ka ʻōnaehana nerve.
- Hiki ke ʻike mua ʻia nā hōʻailona e like me ka pehu ʻana o ka ʻōpū (ke akepaʻa/spleen nui), ka paʻakikī i ka hele wāwae, a me ka ulu ʻole.
- ʻAʻohe lāʻau lapaʻau no kēia maʻi i kēia manawa. ʻO ka mea wale nō i hana ʻia, ʻo ia ke kāohi i nā hōʻailona a hāʻawi i ka hōʻoluʻolu i ka mea maʻi.
- Inā he mau kānalua kāu e loaʻa ana i kāu keiki kekahi o kēia mau hōʻailona, mai hopohopo a e ʻike koke i kahi pediatrician kūpono a i ʻole kekahi kauka ʻē aʻe.
- Ke hana ʻia nei ka noiʻi ʻana i nā maʻi laha ʻole e like me kēia ma ka honua holoʻokoʻa. E lana ka manaʻo e puka mai nā lāʻau lapaʻau maikaʻi aʻe i ka wā e hiki mai ana.
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