He aha ka maʻi Niemann-pick, nā ʻōuli a me nā lāʻau

Anter

• Nā hōʻailona nui
• 1. ʻAno ʻA
• 2. ʻAno B
• 3. ʻAno C
• He aha ke kumu o ka maʻi Niemann-pick
• Pehea e hana ai i ka lāʻau

ʻO ka maʻi Niemann-pick kahi maʻi maʻi laha ʻole i ʻike ʻia e ka hōʻiliʻili ʻana o nā macrophages, ʻo ia nā aʻa koko ke kuleana no ka pale ʻana i nā meaola, piha i nā lipid i kekahi mau lālā e like me ka lolo, ʻāpala a me ke ake, e laʻa me.

Pili pinepine kēia maʻi i ka hemahema o ka enzyme sphingomyelinase, nona ke kuleana no ka metabolization o nā momona i loko o nā hunaola, e hōʻiliʻili i ka momona i loko o nā hunaola, e hopena ai i nā ʻōuli o ka maʻi. Wahi a ka ʻōpala i hoʻopili ʻia, ka nui o ka hemahema o ka enzyme a me nā makahiki i ʻike ʻia ai nā hōʻailona a me nā ʻōuli, hiki ke hoʻokaʻawale ʻia ka maʻi Niemann-Pick i kekahi mau ʻano, ʻo nā mea nui:

• ʻAno A, i kapa ʻia hoʻi ʻo ka maʻi neuropathic Niemann-pick maʻi, ʻo ia ka ʻano koʻikoʻi loa a ʻike pinepine ʻia i nā mahina mua o ke ola, e hōʻemi ana i ke ola a ma kahi o 4 a 5 mau makahiki o ka makahiki;
• ʻAno B, i kapa ʻia hoʻi ʻo ka maʻi visceral Niemann-Pick, ʻo ia kahi ʻano A ʻoi aku ka paʻakikī e hiki ai ke ola i ke wā makua.
• ʻAno C, i kapa ʻia hoʻi ʻo neuropathic maʻi Niemann-pick maʻi, ʻo ia ka ʻano maʻamau i hōʻike mau ʻia i ka wā kamaliʻi, akā hiki ke hoʻomohala i kēlā me kēia makahiki, a he hemahema enzyme, e pili ana i nā waihona kolamu kolamu.

ʻAʻohe lāʻau lapaʻau no ka maʻi Niemann-Pick, eia nō naʻe, he mea nui e kipa pinepine i ke kauka lapaʻau e nānā inā aia kekahi mau hōʻailona e hiki ke mālama ʻia, i mea e hoʻomaikaʻi ai ke ola o ke keiki.

Nā hōʻailona nui

Hoʻololi nā ʻōuli o ka maʻi Niemann-pick e like me ke ʻano o ka maʻi a me nā ʻino i hoʻopili ʻia, no laila ʻo nā ʻōuli maʻamau o kēlā me kēia ʻano me:

1. ʻAno ʻA

ʻO nā ʻōuli o ka maʻi Niemann-Pick ʻano A e ʻike mau ʻia ma waena o 3 a me 6 mau mahina, ke ʻano mua ʻia e ka ʻōpū o ka ʻōpū. Hoʻohui, loaʻa paha ka paʻakikī i ka ulu ʻana a me ka loaʻa ʻana o ke kaupaona, nā pilikia hanu e hopena i nā maʻi hou a me ka ulu ʻana o ka noʻonoʻo maʻamau a 12 mau mahina, akā laila e hōʻino ana.

2. ʻAno B

ʻAno like nā ʻōuli B me nā ʻano o ka maʻi A Niemann-Pick, akā ʻoi aku ka liʻiliʻi o ke koʻikoʻi a ʻike ʻia i ka wā kamaliʻi a i ʻole i ka wā ʻōpio, no ka laʻana. ʻAʻohe liʻiliʻi a ʻaʻohe hoʻi degeneration noʻonoʻo.

3. ʻAno C

ʻO nā ʻōuli nui o ka ʻano C Niemann-pick maʻi ʻo:

• Ka paʻakikī i ka hoʻohui ʻana i nā neʻe;
• Pehu o ka ʻōpū;
• Ka paʻakikī e neʻe ana i kou mau maka i ka ʻaoʻao;
• Hoemi i ka ikaika i nā mākala;
• Nā pilikia o ke akepaʻa a me ka māmā;
• Ka ʻōlelo paʻakikī a me ka ale ʻana paha, ʻoi aku paha ka maikaʻi o ka hala ʻana o ka manawa;
• Huikau;
• ʻO ka lilo mālie o ka hiki i ka noʻonoʻo.

Ke hōʻike ʻia nā ʻōuli e hōʻike paha i kēia maʻi, a i ʻole he mau hihia ʻē aʻe i loko o ka ʻohana, he mea nui e nīnau i ka neurologist a i ʻole ka mea hana maʻamau no nā hoʻokolohua e kōkua i ka hoʻopiha ʻana i ke kuhi, e like me ka hoʻāʻo ʻana o ka iwi iwi a i ʻole ka biopsy ʻili, e hōʻoia i ka alo o ka maʻi.

He aha ke kumu o ka maʻi Niemann-pick

ʻO ka maʻi ʻo Niemann-pick, ʻano A a me ke ʻano B, ke kū aʻe i ka wā e nele ai nā hunaola o hoʻokahi a ʻoi paha nā mea i kapa ʻia ʻo sphingomyelinase, ʻo ia ke kuleana no ka hoʻopili ʻana i nā momona i loko o nā hunaola. No laila, inā ʻaʻohe ka enzyme, ʻaʻole e kāpae ʻia ka momona a hōʻiliʻili ʻia i loko o ka huna, a ʻo ka hopena ka hoʻopau ʻana i ka pūnaewele a hoʻopōʻino paha i ka hana a ka meaola.

ʻAno C o kēia maʻi inā ʻaʻole hiki i ke kino ke hoʻopili i ka cholesterol a me nā ʻano momona ʻē aʻe, e hōʻiliʻili iā lākou i ke akepaʻa, palu a me ka lolo a alakaʻi i ke ʻano o nā ʻōuli.

I nā hihia āpau, kumu ʻia ka maʻi e ka loli kūpili i hiki ke hele aʻe mai nā mākua a i nā keiki a, no laila, ʻoi aku ka pinepine ma waena o ka ʻohana like. ʻOiai ʻaʻohe maʻi o nā mākua, inā he mau hihia i loko o nā ʻohana ʻelua, aia he 25% manawa e hānau ʻia ka pēpē me Niemann-Pick maʻi.

Pehea e hana ai i ka lāʻau

No ka mea ʻaʻohe lāʻau lapaʻau no ka maʻi Niemann-Pick, ʻaʻohe ʻano kikoʻī o ka mālama ʻana a, no laila, he mea nui e mālama mau ʻia e ke kauka e ʻike i nā ʻōuli mua e hiki ke mālama ʻia, i mea e hoʻomaikaʻi ai i ke ola. .

No laila, inā he paʻakikī e ale, no ka laʻana, pono paha e hōʻalo i nā meaʻai paʻakikī a paʻa hoʻi, a me ka hoʻohana ʻana i ka gelatin e mānoanoa ai nā wai. Inā loaʻa pinepine ka hopu ʻana, hiki i kāu kauka ke kuhikuhi i kahi lāʻau anticonvulsant, e like me Valproate a i ʻole Clonazepam.

ʻO ke ʻano wale nō o ka maʻi i ʻike ʻia he lāʻau hiki ke hoʻopaneʻe i kona ulu ʻana ʻo ia ka ʻano C, ʻoiai e hōʻike ana nā noiʻi i ka waiwai miglustat, kūʻai ʻia ma ke ʻano ʻo Zavesca, ālai i ka hoʻokumu ʻia ʻana o nā pā momona ma ka lolo.