ʻO ka maʻi Wilson-Konovalov i nā mākua

ʻO kekahi o nā hōʻailona koʻikoʻi o ka maʻi ʻo ka hōʻiliʻili pathological o ke keleawe ma kahi o nā ʻano ʻano like ʻole, ka pōʻino o ka ʻiʻo, ʻoi aku ka nui o ka ate, nā pilikia o ka ʻōnaehana nerve, nā loli i ka iris o ka maka.

He aha ka maʻi Wilson-Konovalov

ʻO ka huaʻōlelo ʻo Wilson-Konovalov's maʻi he pathology hoʻoilina. Hiki ia i ka wā e hāʻawi ai nā mākua i kahi gene defect (ATP7B) i kā lākou keiki. ʻO ke kūlana e pili ana i nā pathologies autosomal recessive, ʻo ia hoʻi, loaʻa ia inā lawe kēlā me kēia makua i kahi ʻano like i loko o kā lākou mau cell a loaʻa i ke keiki nā genes ʻelua i ka manawa hoʻokahi - mai ka makuahine a mai ka makuakāne.

Hāʻawi kēia gene defect i nā ʻōlelo aʻoaʻo no ka synthesis o kahi protein e hoʻoponopono i ka hoʻololi ʻana a me ka lawe ʻana i ke keleawe i loko o ke kino. Me kona hemahema, ho'ahu 'ia ke keleawe i loko o ke ake, ho'opa'a 'ia i loko o ke a'alolo ganglia, a waiho 'ia ma ka iris o ka maka. ʻAʻole maʻamau ka Pathology, i kekahi manawa paʻakikī loa ke ʻike, ʻoiai inā ʻaʻohe mau maʻi i loko o ka ʻohana.

Nā kumu o ka maʻi Wilson-Konovalov i nā mākua

ʻO ke kaʻina hana nui i kēia pathology ka hoʻoilina o ka gene defect mai nā mākua. Aia ia ma ka chromosome 13 a hoʻoponopono i ka metabolism keleawe.

Ma ka awelika, aia i loko o ke kino o nā pākeke ma kahi o 50-70 mg o ke keleawe a ʻaʻole pono e ʻoi aku ma mua o 2 mg o ka mea i kēlā me kēia lā, mai ka meaʻai.

Hoʻololi ʻia ka hapa nui o ka microelement (95%) me ka protein plasma, ceruloplasmin. Hoʻokumu mau ʻia e ke akepaʻa, a ma kahi o 5% wale nō o ke keleawe e lawe pū ʻia me albumin.

Pono ke keleawe e komo i nā kaʻina metabolic, me nā mea oxidative. Inā ulu ka maʻi o Wilson, hoʻopilikia ʻia kāna excretion, piʻi ka ʻike i loko o ka plasma, mai laila e laha i nā ʻiʻo. ʻO ka hōʻiliʻili nui o ke keleawe ma ka lolo, ma ka ʻāpana o ka iris, i loko o ke ake, a me nā puʻupaʻa pū kekahi. He hopena ʻino ka nui o ka microelement.

Nā hōʻailona o ka maʻi Wilson-Konovalov i nā mākua

ʻOkoʻa loa nā hōʻike hiki. ʻO ka pinepine, pilikia ke ake (e pili ana i 40 - 50% o nā hihia), a ma nā hihia ʻē aʻe, hiki ke ʻike ʻia nā maʻi neurological a me nā pilikia noʻonoʻo. Me ka pōʻino i ka ʻōnaehana nerve a me ka ʻike, ʻike ʻia kahi hōʻailona maʻamau - ka hōʻike ʻana o ke apo Kaiser-Fleischer (hiki ia ma muli o ka waiho ʻana o ke keleawe i loko o ka iris me kona ʻano ʻeleʻele kikoʻī).

Ma ke ʻano o ka ʻōpū o ka maʻi, ʻike pinepine ʻia nā hōʻailona ma kahi o 40 mau makahiki.

• cirrhosis o ke akepaʻa;
• maʻi maʻi a i ʻole fulminant (fulminant) hepatitis.

I ka wā kamaliʻi, ʻike pinepine ʻia kahi ʻano ʻano rigid-arrhythmohyperkinetic o ka maʻi. Hoʻomaka ia me ka rigidity (compaction, poor compliance) o nā ʻiʻo, nā pilikia o ka helehelena, nā pilikia o ka ʻōlelo, nā pilikia me ka hana ʻana e pono ai nā mākau kaʻa maikaʻi, a me ka emi ʻana o ka naʻauao. Ke hoʻomau nei ka maʻi, me nā manawa o ka exacerbation a me ke kala ʻana.

He ʻano like ʻole o ka maʻi lulu Wilson ma waena o nā makahiki 10 a 30 a 35 mau makahiki. Loaʻa paha nā hōʻike e like me ka haʻalulu, ka lohi ʻana o ka neʻe ʻana, ka haʻalele ʻana i ka ʻōlelo, ka epileptic seizures, nā pilikia noʻonoʻo.

ʻO ke ʻano kakaʻikahi o ka maʻi he extrapyramidal-cortical disorders. Ua like ia me nā ʻano a pau, ʻo ia hoʻi, e loaʻa nā convulsive seizures, nā pilikia noʻonoʻo koʻikoʻi, nā maʻi neʻe.

Ka mālama ʻana i ka maʻi Wilson-Konovalov i nā pākeke

He mea nui ka ʻike mua ʻana no ka mālama pono ʻana. ʻAʻole maʻalahi kēia i nā manawa a pau, ʻoi loa i nā kūlana i loaʻa ʻole nā ​​​​hōʻailona maʻamau a me nā ʻeha iris me ke ʻano o ke apo. ʻO ka pinepine, hele mai nā mea maʻi i kahi neurologist, gastroenterologist, a ʻike ʻia ka pilikia e ka ophthalmologist.

lapaʻau '

Inā mākou e kamaʻilio e pili ana i ka hōʻike ʻana o nā hōʻailona maka, e nānā mua ke kauka i ke kūlana o nā maka me kahi kukui slit i mea e hōʻoia ai i ke alo o ke apo Kaiser-Fleischer.

Hōʻike ʻia ke koho ʻana i nā hoʻokolohua biochemical o ke koko a me ka mimi, e hōʻike ana i ka hoʻonui ʻia o ke keleawe i loko o ka mimi a me ka hoʻohaʻahaʻa ʻana o ka ceruloplasmin i ka plasma koko.

E hōʻike ana ʻo CT a i ʻole MRI i nā kaʻina atrophic i ka lolo a me ka cerebellum, ka pōʻino i ka nuclei basal.

Eia kekahi, ua hoʻokō ʻia kahi kūkākūkā me kahi geneticist a me ka nui o nā hoʻāʻo genetic e ʻike ai i nā genes hemahema.

Nā lāʻau lapaʻau hou

ʻO ke ʻano nui o ka mālama ʻana i kēia maʻi ʻo ke koho ʻana i nā lāʻau thiol, ʻoi aku ka unithiol a i ʻole D-penicillamine, cuprenil. Lawe ʻia nā lāʻau lapaʻau no ka manawa lōʻihi, koho ke kauka i ka hopena maikaʻi loa, e pale aku i nā hopena ʻaoʻao.

Eia hou, hiki i ke kauka ke hoʻohana i nā lāʻau lapaʻau mai ka hui o nā neuroleptics, me ka paʻakikī o ka ʻiʻo - levodopa a i ʻole carbidopa.

I nā hihia koʻikoʻi, hōʻike ʻia ka hoʻololi ʻana o ka ate a me ka immunosuppressive therapy. Hiki ke hoʻohana i ka biohemoperfusion me kahi kaʻawale o nā mea cellular ola o ka spleen me ke ake.

Eia hou, pono e hahai i ka meaʻai me ka ʻole o nā meaʻai i loaʻa ka nui o ke keleawe.

Ka pale ʻana i ka maʻi Wilson-Konovalov i nā pākeke ma ka home

"No ka pale ʻana i ka pathology," wahi āna. ʻo ka neurologist ʻo Valentina Kuzmina, - pono pono e pili i ka meaʻai No. 5, a e kaupalena pū i ka lawe ʻana i ke keleawe i ka 1 g i kēlā me kēia lā - haʻalele i nā nati, nā hua maloʻo, ke kokoleka, ka iʻa, nā kuki, ka palaoa āpau. Manaʻo ʻia e lawe i nā lāʻau lapaʻau o ka hui vitamin B6, unithiol, trientine.

Nā nīnau a me nā pane kaulana

Ua kamaʻilio mākou e pili ana i nā pilikia o ka maʻi Wilson-Konovalov, kona mau pilikia a me ka hiki ke mālama pono iā ia iho. ʻo ka neurologist ʻo Valentina Kuzmina.