Ua ʻike anei ʻoe i ka maʻi Niemann-Pick? E kamaʻilio kākou e pili ana i kēia maʻi laha ʻole!

Ua lohe paha ʻoe i kahi mea i kapa ʻia ʻo Niemann-Pick Disease? Malia paha he mea hou kēia inoa iā ʻoe. He maʻi laha ʻole ia, he maʻi genetic e holo ana i loko o nā ʻohana. Hoʻoulu ia i kekahi mau mea koʻikoʻi i loko o ko kākou kino, ʻoiai nā lipids, e hōʻiliʻili ma waho o ke kaohi. No laila e kamaʻilio wale kākou e pili ana i kēia maʻi i kēia lā, ʻeā?

He aha ka maʻi Niemann-Pick?

I ka ʻōlelo maʻalahi, ʻo ka maʻi Niemann-Pick kahi kūlana kahi e hōʻiliʻili ai nā lipids, e like me nā aila, nā waikawa momona, a me ka cholesterol, i loko o kā mākou mau cell ma kahi o ka wāwahi pono ʻia a hoʻololi ʻia i ikehu. He mau maʻi metabolic hoʻoilina kēia, ʻo ia hoʻi, hiki ke hoʻoili ʻia mai nā mākua a i nā keiki. Ma kēia ʻano, hōʻiliʻili nā lipids ʻino ma nā wahi e like me ka lolo, ka spleen, ke akepaʻa, nā māmā, a me ka iwi iwi.

He aha nā hōʻailona maʻamau o kēia maʻi?

Ke hōʻiliʻili nā momona ma kēia ʻano, hiki ke ʻike ʻia nā ʻano hōʻailona like ʻole. Loaʻa i kekahi poʻe nā pilikia e pili ana i ka ʻōnaehana nerve.

• ʻO Ataxia: ʻO kēia ka hiki ʻole ke kāohi i nā ʻiʻo i ka wā o nā neʻe ʻana i manaʻo ʻia, no ka laʻana, i ka wā e hele ana.
• Ua emi ka ikaika o nā ʻiʻo.
• Ka emi mālie ʻana o ka hana o ka lolo.
• ʻIke nui ʻia i ka hoʻopā ʻana.
• Spasticity: ʻO ke ʻano kēia ua paʻakikī nā ʻiʻo a neʻe like ʻole.
• Ke kuʻia nei i ka wā e ʻōlelo ana.

Eia kekahi, aia paha ka paʻakikī i ka ʻai ʻana a me ke ale ʻana, ka maʻi lolo o ka maka, nā pilikia aʻo ʻana, a me ka hoʻonui ʻia ʻana o ke akepaʻa a me ka spleen. I kekahi manawa, aia paha ke ao o ka cornea a me kahi halo ʻulaʻula-cherry ma waenakonu o ka retina.

Aia kekahi mau ʻano nui o ka maʻi Niemann-Pick?

ʻAe, ʻekolu mau ʻano nui o kēia maʻi: nā ʻano A, B, a me C.

ʻAno A:

ʻO kēia ke ʻano koʻikoʻi loa o ka maʻi. Hoʻopilikia pinepine ia i nā pēpē ʻōpio, ma mua o ko lākou mau mahina . He mea maʻamau ia i nā ʻohana Iudaio.

• ʻO nā hōʻailona ka nalowale mālie o ka ʻike.
• Hoʻonui ʻia ke akepaʻa a me ka spleen.
• Ua pehu nā ʻāpana lymph.
• I nā mahina ʻeono, hiki ke hōʻeha nui i ka lolo .

ʻO ka mea kaumaha, ʻaʻole ola pinepine kēia mau pēpē ʻano A ma mua o 18 mau mahina ma ka awelika.

ʻAno B:

ʻIke pinepine ʻia kēia i ka wā kamaliʻi, ma kahi o ka ʻumi a ʻumi paha o nā makahiki .

• Hiki i kēia poʻe ke ʻike i nā hōʻailona e like me ka ataxia a me ka neuropathy peripheral.
• Akā i ka hapanui o ka manawa, ʻaʻohe ona hopena nui i ka lolo.
• Hiki i kēia poʻe ke loaʻa i ka hoʻonui ʻia o ke akepaʻa a me ka spleen a me nā pilikia o ka māmā.

ʻO ke kumu no nā ʻano A a me B:

ʻO ke kumu nui o ka ulu ʻana o kēia mau ʻano ʻelua, ʻo ia ka hana ʻole o ka enzyme sphingomyelinase , ka mea e kōkua ai i ka wāwahi ʻana i ka lipid i kapa ʻia ʻo sphingomyelin, aia i loko o kēlā me kēia cell o ko mākou kino. ʻO ka hopena, hōʻiliʻili ka lipid i kapa ʻia ʻo sphingomyelin i loko o nā cell i nā nui ʻawahia.

ʻAno C:

Hiki ke hoʻomaka kēia ʻano i ka wā ʻōpiopio o ke ola, a i ʻole hiki ke ʻike ʻia i ka wā ʻōpio a i ʻole ka wā makua .

• Hoʻokumu ʻia kēia e ka nele o ʻelua mau protein i kapa ʻia ʻo NPC1 a i ʻole NPC2 mau protein .
• Hiki i kēia poʻe ke loaʻa i ka hōʻeha nui o ka lolo, hiki ke hoʻopilikia i ka nānā ʻana i luna a i lalo, ka paʻakikī i ka hele ʻana a me ke ale ʻana, a me ka nalowale mālie o ka ʻike a me ka lohe.
• Hiki ke hoʻonui iki ʻia ke akepaʻa a me ka spleen.
• Ma mua, ʻo ka poʻe no kēia ʻano C, nona kahi moʻokūʻauhau like ma ka ʻāina i kapa ʻia ʻo Nova Scotia, ua kapa ʻia hoʻi ʻo ʻano D. Akā i kēia manawa aia ia ma lalo o ke ʻano C.

Aia kekahi lāʻau lapaʻau no kēia?

ʻO ka ʻoiaʻiʻo, ʻaʻohe lāʻau lapaʻau no ka maʻi Niemann-Pick. I kēia manawa, aia wale nō nā lāʻau lapaʻau kākoʻo e kāohi ana i nā hōʻailona a hāʻawi i ka hōʻoluʻolu. I ka manawa pinepine, hiki i kēia mau keiki ke nalowale i ko lākou ola ma muli o nā maʻi a i ʻole ka nāwaliwali mālie o ka ʻōnaehana nerve.

• ʻAʻohe lāʻau lapaʻau kūpono i kēia manawa no ka poʻe me ke ʻano A.
• Ua loaʻa i kekahi poʻe me ke ʻano B nā hoʻoili iwi iwi . Manaʻo pū kekahi poʻe noiʻi he mea pono paha nā mea e like me ka hoʻōla hoʻololi enzyme a me nā hoʻōla gene no ka poʻe me ke ʻano B i ka wā e hiki mai ana.
• ʻAʻole hiki i ka kaohi ʻana i kāu mea e ʻai ai a inu ai ke pale aku i ka hōʻiliʻili ʻana o kēia mau ʻano momona i loko o nā pūnaewele a me nā ʻiʻo.

He aha ka wā e hiki mai ana o ka maʻi?

ʻO ka wā e hiki mai ana o kēia maʻi, ʻo ia hoʻi, pehea ka lōʻihi o ke ola ʻana o ka mea maʻi a pehea hoʻi ko lākou ola ʻana, ʻokoʻa ia ma muli o ke ʻano o ka maʻi.

• ʻO nā pēpē me ke ʻAno A , e like me ka mea i ʻōlelo ʻia ma mua, make lākou i ka wā kamaliʻi .
• ʻO nā keiki me ke ʻano B e ola lōʻihi iki aʻe ma mua o nā poʻe ʻē aʻe, akā pono paha e hāʻawi ʻia i ka oxygen keu ma muli o nā hopena ma nā māmā.
• ʻOkoʻa ke ola o ka poʻe me ke ʻano C. Hiki i kekahi poʻe ke make i ka wā kamaliʻi, akā hiki i kekahi poʻe me nā hōʻailona ʻoi aku ka koʻikoʻi ke ola a hiki i ka wā makua .

He aha nā noiʻi hou e hana nei e pili ana i kēia?

Ke hana ʻia nei nā noiʻi e pili ana i ka maʻi Niemann-Pick ma nā wahi like ʻole o ka honua, ʻoi aku hoʻi ma ka National Institute of Neurological Disorders and Stroke (NINDS) ma ʻAmelika Hui Pū ʻIa, a meʻO nā ʻoihana e like me ka National Institutes of Health (NIH) ke alakaʻi nei i kēia.

• Ua ʻimi lākou i nā genes e kōkua i ka ulu ʻana o kēia maʻi. No ka laʻana, ua ʻike lākou i ʻelua mau genes kīnā (NPC1 a me NPC2) e hoʻoulu ai i ka Niemann-Pick type C.
• Ke noiʻi nei nā kānaka ʻepekema i nā ʻano hana e hōʻino ai kēia hōʻiliʻili ʻana o ka momona i ke kino.
• Ke hana ʻia nei hoʻi ka noiʻi ʻana e ʻike i nā biomarkers , a i ʻole nā ​​hōʻailona e hōʻike ana i ke alo o kahi maʻi, hiki ke kōkua i ka ʻike ʻana i nā maʻi mālama lipid i ka wā mua. Manaʻolana ʻia e kōkua kēia i ka hoʻomaikaʻi ʻana i ka ʻike ʻana.

ʻO ka mea hope loa, pono ʻoe e ʻōlelo ...

ʻAe, ke lana nei koʻu manaʻo he manaʻo kou mai ka mea a mākou i kamaʻilio ai e pili ana i ka maʻi Niemann-Pick.

E hoʻomanaʻo i kēia: He maʻi laha ʻole ka maʻi Niemann-Pick, he maʻi hoʻoilina i hoʻoili ʻia e hoʻoulu ai i ka hōʻiliʻili ʻana o ka momona ma ke kino.

• ʻEkolu mau ʻano nui o kēia maʻi, ʻo A, B, a me C , kēlā me kēia me nā hōʻailona like ʻole a me ke koʻikoʻi.
• ʻO ke ʻano A ka mea koʻikoʻi loa a hoʻopilikia i nā pēpē ʻōpio. Hiki ke ʻike ʻia ke ʻano B i ka wā kamaliʻi, a hiki ke ʻike ʻia ke ʻano C i kēlā me kēia makahiki.
• ʻAʻohe lāʻau lapaʻau piha no kēia , nā lāʻau lapaʻau kākoʻo wale nō e kaohi ana i nā hōʻailona.
• Akā ke hoʻomau nei ka noiʻi e loaʻa nā lāʻau lapaʻau hou.
• Inā loaʻa i kekahi o kou ʻohana kēia mau hōʻailona, ​​a inā makemake ʻoe e aʻo hou e pili ana i kēia maʻi, ʻoi aku ka maikaʻi o ka ʻike ʻana i kahi loea no ka ʻōlelo aʻo . Hiki iā ʻoe ke nānā i nā hui kākoʻo a me nā hui e kōkua ana i nā poʻe me kēia mau maʻi laha ʻole a me ko lākou mau ʻohana.

Lana ko mākou manaʻo he mea pono kēia ʻike iā ʻoe. E noho olakino!

ʻO ka maʻi Niemann -Pick, nā maʻi genetic, nā waihona momona, nā maʻi pediatric, ka ʻōnaehana nerve, nā maʻi laha ʻole