ʻO ka maʻi Niemann-pick

ʻO ka maʻi ʻo Niemann-pick (NPD) kahi hui o nā maʻi i hoʻoili ʻia i waena o nā ʻohana (hoʻoilina) kahi o nā mea momona i kapa ʻia he lipids e hōʻiliʻili ʻia i loko o nā hunaola o ke koʻi, ke ake, a me ka lolo.

ʻEkolu mau ʻano maʻamau o ka maʻi.

• ʻAno A
• ʻAno B
• ʻAno C

Pili kēlā me kēia ʻano i nā mea ʻokoʻa. Pili paha ia i ka ʻōnaehana hopohopo a me ka hanu ʻana. Hiki i kēlā me kēia mea ke kumu i nā ʻōuli ʻokoʻa a kū paha i nā manawa like ʻole i ke ola holoʻokoʻa.

Hana ʻia nā ʻano NPD A a me B ke loaʻa ʻole kahi ʻelemu i ke kino i kapa ʻia ʻo acid sphingomyelinase (ASM). Kōkua kēia mea i ka wāwahi (metabolize) i kahi mea momona i kapa ʻia ʻo sphingomyelin, i loaʻa i kēlā me kēia cell i ke kino.

Inā nalo ʻo ASM a hana ʻole paha, kūkulu ʻo sphingomyelin i loko o nā hunaola. Pepehi kēia i kāu mau pūnaewele a paʻakikī i nā ʻōpū e hana kūpono.

ʻAno A loaʻa i nā lāhui āpau a me nā lāhui āpau. ʻOi aku ka maʻamau i ka Ashkenazi (ʻEulopa Hema) ka lehulehu Iudaio.

Kū ka ʻano C ke hiki ʻole i ke kino ke wāwahi pono i ka cholesterol a me nā momona ʻē aʻe (lipids). Ke alakaʻi nei kēia i ka nui o ke kōkō ma ke akepaʻa a me ka lepe a me ka nui o nā lipid ʻē aʻe i ka lolo. ʻO ka ʻano C ka mea maʻamau i waena o Puerto Ricans o ka moʻokūʻauhau Paniolo.

ʻAno C1 kahi ʻano ʻokoʻa o ka ʻano C. Pili ia i kahi kīnā e ālai ana i ka neʻe ʻana o ka cholesterol ma waena o nā lolo lolo. ʻIke wale ʻia kēia ʻano ma ka poʻe Palani Kanada ma Yarmouth County, Nova Scotia.

Kūlike nā ʻōuli. ʻO nā kūlana olakino ʻē aʻe ke kumu i nā ʻōuli like. ʻO nā pae mua o ka maʻi ke kumu wale i kekahi mau ʻōuli. ʻAʻole loaʻa i kekahi kanaka nā hōʻailona āpau.

Hoʻomaka ka hoʻomaka ʻana o ʻAno i nā mahina mua o ke ola. Pākuʻi ʻia paha nā ʻōuli:

• ʻO ka ʻōpū (ʻōpū ʻōpū) ʻōhū ma waena o 3 a 6 mau mahina
• ʻO kahi kiko ʻulaʻula Cherry ma ka hope o ka maka (ma ka retina)
• Pilikia hānai
• Lilo o nā mākau kaʻa mua (e ʻoi aku ka maikaʻi ma mua o ka manawa)

ʻOi aku ka maʻalahi o nā ʻōuli B type. Kū lākou i ka wā kamaliʻi a i ʻole nā ​​makahiki ʻōpio. Hiki i ka ʻōpū ʻōpū ke loaʻa i nā keiki ʻōpio. ʻAneʻane ʻaʻohe lolo a me nā ʻōnaehana ʻōnaehana, e like me ka nalo ʻana o ka mākau kaʻa. Loaʻa paha i kekahi mau keiki i nā maʻi hanu hou.

Hoʻopili pinepine nā ʻano C a me C1 i nā keiki o ke kula. Eia nō naʻe, hiki ke hana ʻia i kēlā me kēia manawa ma waena o ka wā kamaliʻi a hiki i ka wā makua. Pākuʻi ʻia paha nā ʻōuli:

• Ka hoʻoneʻe paʻakikī i nā lālā e alakaʻi ai i ke ala hele ʻole ʻole, clumsiness, nā pilikia hele wāwae
• ʻLepala hoʻonui
• Ake akea
• ʻO Jaundice ma (a ma hope koke paha) hānau
• Ka hoʻohaʻahaʻa aʻo ʻana a me ka hōʻemi ʻana o ka ʻike
• Ka hopu ʻana i nā maʻi
• Slurred, ʻōlelo kūpono ʻole
• Ka lilo koke ʻana o ke kani o ka mākala i hiki ke hāʻule i ka hāʻule
• Nā haʻalulu
• Hoʻopilikia i ka neʻe ʻana o nā maka i luna a i lalo

Hiki ke hana ʻia kahi hōʻoia koko a iwi paha e ʻike i nā ʻano A a me B. Hiki i ka hoʻāʻo ke haʻi i ka mea i loaʻa ka maʻi, akā ʻaʻole hōʻike inā he lawe ʻoe. Hiki ke hana i nā hoʻokolohua DNA e hōʻoia i nā mea lawe o nā ʻano A a me B.

Hana ʻia kahi biopsy ʻili e ʻike pono i nā ʻano C a me D. Nānā ke kahu mālama ola pehea e ulu ai, neʻe ai, a mālama ai nā ʻili koleke. Hana ʻia paha nā hoʻokolohua DNA e nānā ai i nā gen 2 i kumu i kēia ʻano maʻi.

ʻO nā hōʻike ʻē aʻe paha:

• ʻIʻini iwi iwi
• ʻO ke biopsy ate (ʻaʻole makemake ʻia)
• Hōʻike maka kukui kukui
• Nā ho'āʻo e nānā i ka pae o ASM
  

I kēia manawa, ʻaʻohe mālama kūpono no ka ʻano A.

Hiki ke hoʻāʻo ʻia nā mea hoʻoneʻe iwi no ka ʻano B. Hoʻomau ka poʻe noiʻi e hoʻopaʻa i nā ʻano hiki ke mālama ʻia, e like me ka hoʻololi ʻana o ka enzyme a me ka gen therapy.

Loaʻa kahi lāʻau hou i kapa ʻia ʻo miglustat no nā ʻōnaehana ʻōiwi o ka ʻano C.

Hiki ke mālama ʻia ke kolamu kiʻekiʻe me kahi papaʻai olakino, haʻahaʻa-kolesterol a i ʻole nā ​​lāʻau. Eia naʻe, ʻaʻole hōʻike ʻia kahi noiʻi i kēia mau ʻano hana e hōʻoki i ka maʻi mai ka ʻino a hoʻololi paha i ka haki ʻana o nā hunaola i ka kolesterol. Loaʻa nā lāʻau e kāohi ai ʻole e hōʻoluʻolu ai i nā ʻōuli he nui, e like me ka nalo ʻana o ke kani a nā puʻupuʻu a me ka hopu ʻana.

Hiki i kēia mau hui ke hāʻawi i ke kākoʻo a me ka ʻike hou aku e pili ana i ka maʻi Niemann-Pick:

• National Institute of Neurological Disorder a me ka hahau - www.ninds.nih.gov/Disorder/All-Disorders/Niemann-Pick-Disease-Information-Page
• ʻO National Niemann-Pick Disease Foundation - nnpdf.org
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/niemann-pick-disease-type-c

ʻO ka ʻano NPD he maʻi nui. Alakaʻi maʻamau ia i ka make i ka makahiki 2 a 3 paha.

ʻO ka poʻe me ke ʻano B hiki ke noho i ka wā kamaliʻi a i ʻole ke makua ʻana.

ʻAʻole hiki i kahi keiki e hōʻike i nā hōʻailona o ke ʻano C ma mua o ka makahiki 1 ke noho i ka makahiki kula. ʻO ka poʻe e hōʻike i nā ʻōuli ma hope o ke komo ʻana i ke kula e noho lākou i waena o ko lākou wā ʻōpio. Noho paha kekahi i ko lākou 20s.

E hana i kahi manawa me kāu mea hāʻawi inā loaʻa iā ʻoe kahi moʻolelo ʻohana o ka maʻi Niemann-Pick a hoʻolālā ʻoe e hānau keiki. Paipai ʻia ka ʻōlelo aʻoaʻo genetic a me ka kānana ʻana.

Kāhea i kāu mea hāʻawi inā loaʻa kāu keiki i nā ʻōuli o kēia maʻi, me:

• Nā pilikia ulu
• Nā pilikia hānai
• Loaʻa maikaʻi kaupaona

ʻO nā ʻano a pau o Niemann-pick he recessive autosomal. ʻO kēia ka mea lawe ʻelua nā mākua. Loaʻa i kēlā me kēia mākua kahi kope o ka gen abnormal me ka ʻole o nā hōʻailona o ka maʻi iā lākou iho.

Ke lawe nā mākua ʻelua, aia kahi 25% kūpono e loaʻa ka maʻi i kā lāua keiki a he 50% ka manawa e lawe ai kā lāua keiki.

ʻO ka hoʻāʻo ʻana o ka ʻike lawe halihali hiki wale nō ke ʻike ʻia ka maʻi kīnā. Ua aʻo maikaʻi ʻia nā kīnā e pili ana i nā ʻano A a me B. Loaʻa nā hoʻāʻo DNA no kēia ʻano Niemann-pick.

Ua ʻike ʻia nā hemahema genetic i loko o ka DNA o nā kānaka he nui me ka ʻano C. Hiki paha ke kuhi i ka poʻe e hāpai i ka ʻāpana ʻokoʻa.

Hāʻawi kekahi mau kikowaena i nā hoʻokolohua e hōʻoia ai i kahi pēpē i loko o ka ʻōpū.

NPD; Ka hemahema Sphingomyelinase; ʻO ka maʻi mālama lipid - maʻi Niemann-pick; Maʻi maʻi Lysosomal - Niemann-pick

• Niemann-Koho i nā pūnaewele hua hua

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM .. Nā hemahema i ka metabolism o lipids. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 104.

Turnpenny PD, Ellard S, Cleaver R. Inborn hewa o ka metabolism. I: Turnpenny PD, Ellard S, Cleaver R, eds. Nā Emehana o Emery o nā Genetics Lapaʻau a me nā Genomics. 16th ed. Piladelapia, PA: Elsevier; 2022: chap 18.