Maʻi ʻo Wilson

ʻO ka maʻi ʻo Wilson kahi maʻi hoʻoilina i nui ai ke keleawe i nā kiko o ke kino. Hoʻopōʻino ke keleawe keu i ke ake a me nā ʻōnaehana.

ʻO ka maʻi ʻo Wilson kahi maʻi hoʻoilina maʻamau. Inā hāpai nā mākua ʻelua i kahi ʻāpana hemahema no ka maʻi ʻo Wilson, aia he 25% loaʻa i kēlā me kēia hāpai keiki e loaʻa i ke keiki ka maʻi.

ʻO ka maʻi Wilson ke kumu o ke kino e lawe ai a mālama i ke keleawe he nui. Hoʻokomo ke keleawe i ke ake, ka lolo, nā puʻupaʻa, a me nā maka. ʻO kēia ke kumu o ka hōʻino ʻana o ka ʻaʻa, ka make ʻana o ka ʻaʻa, a me ka scarring. Pau nā hana a nā mea i hoʻopili ʻia i ka hana maʻamau.

Kūlana maʻamau kēia kūlana ma ka hikina o ka poʻe ʻEulopa, ka poʻe Sisilia, a me ka poʻe ʻItalia hema, akā hiki paha i kekahi hui. Hōʻike pinepine ʻia ka maʻi ʻo Wilson ma ka poʻe ma lalo o 40 mau makahiki. I nā keiki, hoʻomaka nā ʻōuli e hōʻike i ka makahiki 4.

Pākuʻi ʻia paha nā ʻōuli:

• Ke kūlana maʻamau o nā lima a me nā wāwae
• Pākuʻi
• Huikau a delirium paha
• Dementia
• Ka paʻakikī e neʻe nei i nā lima a me nā wāwae, ʻoʻoleʻa
• Hele wāwae paʻakikī (ataxia)
• Hoʻololi manaʻo a ʻano hana paha
• Ka hoʻonui ʻana o ka ʻōpū ma muli o ka hōʻiliʻili ʻana o ka wai (ascites)
• Hoʻololi ka pilikino
• ʻO Phobias, kaumaha (neuroses)
• Nā neʻe lohi
• Lohi a hoʻemi i ka neʻe a me nā hiʻohiʻona o ka maka
• Ka hoʻohaʻahaʻa ʻōlelo
• Nā haʻalulu o nā lima a lima paha
• Ka hoʻoneʻe hiki ʻole ke kāohi
• ʻO ka neʻe ʻole ʻana a me ka neʻe ʻana
• Koko luaʻi
• Nawaliwali
• ʻO kaʻili melemele (jaundice) a melemele paha o ka keʻokeʻo o ka maka (icterus)

E hōʻike ʻia kahi hōʻike maka maka kukui.

• ʻO ka neʻe maka maka palena ʻana
• ʻO ke apo momona a ʻeleʻele paha a puni ka iris (Kayser-Fleischer ring)

E hōʻike paha kahi hōʻike kino i nā hōʻailona o:

• Ka hōʻino ʻana i ka ʻōnaehana ʻōnaehana waena, me ka nalowale o ka hoʻohui ʻana, ka nalowale ʻana o ka kaohi o ka mākala, ka haʻalulu ʻana o nā mākala, ka nalowale ʻana o ka noʻonoʻo a me ka IQ, ka nalo ʻana o ka hoʻomanaʻo, a me ka huikau (delirium a dementia paha)
• Nā maʻi o ke ake a i ʻole nā ​​ʻāpala (me ka hepatomegaly a me ka splenomegaly)

Hoʻokomo ʻia paha nā hoʻokolohua lab:

• Helu piha koko (CBC)
• Seruloplasmin serum
• Keleawe serum
• Serum uric acid
• Keleawe mimi

Inā loaʻa nā pilikia o ke ake, ʻike paha nā hoʻokolohua lab.

• ʻO AST kiʻekiʻe a me ALT
• Bilirubin kiʻekiʻe
• PT kiʻekiʻe a me PTT
• Ke albumin haʻahaʻa

Hiki i nā hoʻokolohua ʻē aʻe ke:

• Hōʻike keleawe mimi he 24 mau hola
• Hihi x ʻōpū
• ʻO MRI ʻōpū
• CT scan o ka ʻōpū
• Poʻomanaʻo CT poʻo
• Poʻo MRI
• ʻO ka biopsy ate
• ʻO endoscopy GI luna

Ua loaʻa ka ʻaoʻao nāna i hoʻokumu i ka maʻi ʻo Wilson. Kāhea ʻia ATP7B. Loaʻa ka hoʻāʻo DNA no kēia ʻāpana.E kamaʻilio me kāu kauka olakino a i ʻole he kākāʻōlelo pākana inā makemake ʻoe e hana ʻia ka hoʻāʻo ʻana i nā gen.

ʻO ka pahuhopu o ka mālama ʻana e hōʻemi i ka nui o ke keleawe i nā aʻa. Hana ʻia kēia e ke kaʻina hana i kapa ʻia ʻo chelation. Hāʻawi ʻia kekahi mau lāʻau e hoʻopaʻa i ke keleawe a kōkua e lawe iā ia ma o nā puʻupaʻa a i ʻole ka ʻōpū. Pono e mālama i ke ola holoʻokoʻa.

Hiki ke hoʻohana ʻia nā lāʻau aʻe:

• Hoʻopili ka Penicillamine (e like me Cuprimine, Depen) i ke keleawe a alakaʻi i ka hoʻonui ʻia o ka hoʻokuʻu ʻana o ke keleawe i ka mimi.
• Hoʻopili ʻo Trientine (e like me Syprine) i ke keleawe a hoʻonui i kona hoʻokuʻu ʻia ma o ka mimi.
• Palaka ʻo Zinc acetate (e like me Galzin) i ke keleawe mai ke komo ʻana i loko o ke kōpū.

Hiki ke hoʻohana ʻia nā mea hoʻohui Vitamin E.

I kekahi manawa, hiki i nā lāʻau i chelate keleawe (e like me ka penicillamine) ke hoʻololi i ka hana o ka lolo a me ka ʻōnaehana (hana neurological). ʻO nā lāʻau ʻē aʻe ma lalo o ka hoʻokolokolo ʻana hiki ke hoʻopaʻa i ke keleawe me ka loli ʻole o ka hana neurological.

Paipai ʻia kahi papaʻai keleawe haʻahaʻa. Nā meaʻai e hōʻalo ai i:

• Kokoleka
• Hua maloʻo
• Akepaʻa
• ʻAha
• Nati
• ʻFishhuhu

Makemake paha ʻoe e inu i ka wai pulu no ka mea e kahe ana kekahi wai kahe ma o nā paipu keleawe. Hōʻalo i ka hoʻohana ʻana i nā ipu kuke kuke keleawe.

Hiki ke mālama ʻia nā ʻōuli me ka hoʻoikaika kino a i ʻole ka hoʻoikaika kino. Pono paha ka poʻe huikau a ʻaʻole hiki ke mālama iā lākou iho i nā hana pale kūikawā.

E noʻonoʻo ʻia kahi hoʻoliʻiliʻi ate i nā hihia kahi i hōʻino nui ʻia ke akepaʻa e ka maʻi.

Hiki ke ʻike ʻia nā pūʻulu kākoʻo maʻi Wilson ma www.wilsonsdisease.org a me www.geneticalliance.org.

Pono ka mālama ola lōʻihi e kaohi i ka maʻi ʻo Wilson. Hoʻokumu paha ka maʻi i nā hopena make, e like me ka nalo ʻana o ka hana ate. Hiki i nā keleawe ke loaʻa nā hopena ʻawahia ma ka ʻōnaehana hopohopo. I nā hihia kahi make ʻole o ka maʻi, hiki ʻole ke hōʻino ʻia nā ʻōuli.

Komo pū nā pilikia:

• Anemia (hemolytic anemia mea laha ʻole)
• Nā pilikia ʻōnaehana waena
• Cirrhosis
• Ka make ʻana o nā ʻaʻa ate
• Akepaʻa momona
• Hepatitis
• Hoʻonui i nā manawa o nā haki iwi
• Hoʻonui i nā helu o nā maʻi
• Ka ʻeha ma muli o ka hāʻule
• ʻO Jaundice
• ʻO nā kuʻikahi hui a i ʻole nā ​​deformity ʻē aʻe
• Loaʻa ka hiki ke mālama iā ʻoe iho
• Lilo o ka hiki ke hana ma ka hana a me ka home
• Loaʻa ka hiki ke launa pū me nā poʻe ʻē aʻe
• Ka nalowale o ka nui o nā mākala (atrophy muscle)
• Nā pilikia psychological
• Nā hopena ʻaoʻao o ka penicillamine a me nā lāʻau e hoʻohana ʻia e mālama ai i ka maʻi
• Nā pilikia Spleen

ʻO ke kūpikipiki ʻole a me ka hōʻino ʻana i ke kikowaena pūnaewele (lolo, iwi kuamoo) nā hopena maʻamau a weliweli hoʻi o ka maʻi. Inā ʻaʻole i hopu ʻia ka maʻi a mālama mua ʻia, hiki nō ke make.

Kāhea i kāu mea hāʻawi inā loaʻa iā ʻoe nā ʻōuli o ka maʻi ʻo Wilson. Kāhea i kahi kākāʻōlelo genetic inā he moʻolelo kou no ka maʻi ʻo Wilson i kou ʻohana a ke hoʻolālā nei ʻoe e loaʻa nā keiki.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no ka poʻe me ka moʻolelo ʻohana o ka maʻi ʻo Wilson.

Maʻi ʻo Wilson; ʻO ka hoʻohaʻahaʻa Hepatolenticular

• ʻŌnaehana ʻōnaehana waena a me ka ʻōnaehana ʻōnaehana peripheral
• Hōʻike mimi keleawe
• Anatomia akepau

Pūnaewele Institute of Diabetes a me Digestive a me nā maʻi maʻi puʻuwai. Maʻi ʻo Wilson. www.niddk.nih.gov/health-information/liver-disease/wilson-disease. Hoʻohou Nowemapa 2018. Loaʻa iā Nowemapa 3, 2020.

Roberts EA. Maʻi ʻo Wilson. I: Feldman M, Friedman LS, Brandt LJ, eds. ʻO Sleisenger a me Fordtran's Gastrointestinal a me ka maʻi ate. 11th hua. Piladelapia, PA: Elsevier; 2021: chap 76.

ʻO Schilsky ML. Maʻi ʻo Wilson. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 200.