Alkaptonuria: he aha ia, nā ʻōuli a me nā lāʻau

Anter

• Nā ʻōuli o ka alkaptonuria
• No ke aha e hana ai
• Pehea e hana ai i ka lāʻau

ʻO Alcaptonuria, i kapa ʻia hoʻi ʻo ochronosis, kahi maʻi laha ʻole i hōʻike ʻia e ka hemahema o ka metabolism o nā amino acid phenylalanine a me tyrosine, ma muli o ka hoʻololi iki ʻana o ka DNA, a laila hōʻiliʻili ʻia kahi mea i loko o ke kino ma lalo o nā kūlana maʻamau. ʻike ʻia i loko o ke koko.

Ma ke ʻano he hopena o ka hōʻiliʻili ʻana o kēia mea, aia nā ʻōuli a me nā ʻōuli maʻamau o ka maʻi, e like me ka mimi ʻeleʻele, wax wax bluish, ʻeha a me ka ʻoʻoleʻa i nā hono a me nā kiko ma ka ʻili a me ka pepeiao, no ka laʻana.

ʻAʻohe lāʻau o Alcaptonuria, akā kōkua ka lapaʻau e hōʻemi i nā ʻōuli, pono ʻia e hāhai i ka papaʻai i nā meaʻai i loaʻa ka phenylalanine a me ka tyrosine, me ka hoʻonui ʻana i ka ʻai o nā meaʻai i loko o ka huaora C, e like me ka lemona, no ka laʻana.

Nā ʻōuli o ka alkaptonuria

ʻIke pinepine nā ʻōuli o alcaptonuria i ka wā kamaliʻi, ke ʻike ʻia ka mimi ʻeleʻele a me nā kiko ma ka ʻili a me nā pepeiao, no ka laʻana. Eia nō naʻe, lilo kekahi poʻe i hōʻailona ma hope o ka makahiki 40, ka mea i ʻoi aku ka paʻakikī o ka mālama ʻana a ʻoi aku ka nui o nā ʻōuli.

ʻO ka maʻamau, ʻo nā ʻōuli o ka alkaptonuria:

• ʻEleʻele, ʻaneʻane ʻeleʻele mimi;
• ʻ waxhiu pepeiao Bluish;
• Nā kiko ʻeleʻele ma ka ʻāpana keʻokeʻo o ka maka, a puni ka pepeiao a me ka larynx;
• Kuli;
• ʻO ke kuʻi ʻana ke kumu o ka ʻeha ami a me ka neʻe palena ʻana.
• ʻOʻoleʻa ka cartilage;
• ʻO nā pōhaku hakuʻala a me nā prostate, i ka hihia o nā kāne;
• Nā pilikia puʻuwai.

Hiki i ka pigment ʻeleʻele ke hōʻiliʻili ma ka ʻili i nā wahi o ka ʻili a me ke kī, ʻoiai, ke hele a hou ka lole, hiki ke hele i nā lole. ʻO ka maʻamau no ka paʻakikī o ke kanaka e hanu ma muli o ke kaʻina o ka cartilage kumu kūʻai paʻakikī a me ka hoarseness ma muli o ka ʻoʻoleʻa o ka membrane hyaline. I nā hopena hope loa o ka maʻi, hiki i ka waikawa ke hōʻiliʻili i loko o nā uaua a me nā aʻa o ka puʻuwai, i hiki ai i nā pilikia puʻuwai koʻikoʻi.

Hana ʻia ke kuhi o ka alkaptonuria ma ke kālailai ʻana i nā ʻōuli, ma ke ʻano ʻeleʻele o ka maʻi i ʻike ʻia ma nā ʻāpana like ʻole o ke kino, me ka hoʻāʻo ʻana i nā hoʻokolohua a ka hale hana e ʻimi ai i ka hoʻohuoi o ka homogentisic acid i loko o ke koko, ka hapanui, a i ʻole. e huai ae i ka hoʻololi ma o nā hoʻokolohua ʻana o ka mole.

No ke aha e hana ai

ʻO Alcaptonuria kahi maʻi metabolic recessive autosomal i hōʻike ʻia e ka loaʻa ʻole o ka homogentisate dioxigenase enzyme ma muli o ka loli o DNA. Hana kēia enzyme i ka metabolism o kahi hui waena i ka metabolism o phenylalanine a me tyrosine, waikawa homogentisic.

No laila, ma muli o ka nele o kēia enzyme, aia kahi hōʻiliʻili o kēia waikawa i loko o ke kino, e alakaʻi ana i ke ʻano o nā hōʻailona o ka maʻi, e like me ka mimi ʻeleʻele ma muli o ke kū ʻana o ka waikawa homogeneous i ka mimi, ke ʻano o ka uliuli a i ʻole nā ​​kiko ʻeleʻele i ka maka a me ka maka a me ka ʻeha a me ka ʻoʻoleʻa o nā maka.

Pehea e hana ai i ka lāʻau

Loaʻa i ka lāʻau lapaʻau no ka alkaptonuria ka pahuhopu o ka hoʻomaha ʻana i nā ʻōuli, ʻoiai he maʻi maʻi ia o ke ʻano resessive. No laila, hiki ke koi ʻia ka hoʻohana ʻana i nā analgesics a i ʻole nā ​​lāʻau anti-inflammatory e hōʻoluʻolu i ka ʻeha hui a me ka paʻa o ka cartilage, me ka hoʻohui ʻana i nā kau physiotherapy, hiki ke hana ʻia me ka infiltration corticosteroid, e hoʻomaikaʻi i ka neʻe o nā hono i hoʻopili ʻia.

Hoʻohui ʻia, koi ʻia e ukali i ka papaʻai papaʻai i ka phenylalanine a me ka tyrosine, ʻoiai he mea mua ia o ka waikawa homogentisic, no laila e koi ʻia e hōʻalo i ka ʻai ʻana o nā cashews, ʻalemona, nati, Brazil, avocados, mushroom, egg white, banana, waiū a me nā pi, no ka laʻana.

ʻO ka lawe ʻana o ka wikamina C, a i ʻole ascorbic acid, ʻōlelo ʻia hoʻi ma ke ʻano he lapaʻau, no ka mea he maikaʻi ia i ka hōʻemi ʻana i ka hōʻiliʻili ʻana o nā pigment brown i ka cartilage a me ka hoʻomōhala ʻana i ka maʻi kō.