ʻAkaptonuria

ʻO Alkaptonuria kahi ʻano laha ʻole kahi e huli ai ka mimi o ke kanaka i kahi kala ʻeleʻele brownish-ʻeleʻele ke hōʻike ʻia i ka ea. ʻO Alkaptonuria kahi ʻāpana o kahi hui i ʻike ʻia he hewa i loko o ka metabolism.

He kīnā i ka HGD kumu ke kumu i ka alkaptonuria.

ʻAʻole hiki i ke kino kīnā ke hiki i ke kino ke haki pono i kekahi mau amino acid (tyrosine a me phenylalanine). ʻO ka hopena, kūkulu ʻia kahi mea i kapa ʻia he homogentisic acid i loko o ka ʻili a me nā kino o ke kino. Haʻalele ka ʻakika i ke kino ma o ka mimi. Huli ʻeleʻele i ka mimi ke hui ʻia me ka ea.

Ua hoʻoili ʻia ʻo Alkaptonuria, ʻo ia hoʻi ua hoʻoili ʻia i waena o nā ʻohana. Inā lawe nā mākua ʻelua i kahi kope hana ʻole o ka ʻaoʻao e pili ana i kēia kūlana, loaʻa i kēlā me kēia o kā lāua keiki he 25% (1 i ka 4) manawa kūpono e ulu ai ka maʻi.

Pōʻeleʻele paha ka mimi i ka diaper o kahi pēpē a hiki ke ʻaneʻane ʻeleʻele ma hope o kekahi mau hola. Eia nō naʻe, ʻaʻole paha ʻike ka poʻe he nui me kēia ʻano iā lākou. ʻIke pinepine ʻia ka maʻi i ka waenakonu o ke kanaka makua (ma kahi o 40 mau makahiki), ke hui ʻia a me nā pilikia ʻē aʻe.

Pākuʻi ʻia paha nā ʻōuli:

• Arthritis (ʻo ia hoʻi o ka iwi kuamoʻo) iʻoi aku ka hewa i ka hala ʻana o ka manawa
• Pouli ka pepeiao
• Nā kiko ʻeleʻele i ke keʻokeʻo o ka maka a me ka ʻoa

Hana ʻia kahi hōʻike mimi e hoʻāʻo no ka alkaptonuria. Inā hoʻohui ʻia ka ferric chloride i ka mimi, e hoʻohuli ia i ka mimi ʻeleʻele i ka poʻe me kēia ʻano.

ʻO ka mālama ʻana i ka alkaptonuria ka mea maʻa mau i ka kaohi ʻana i nā ʻōuli. He mea kōkua paha ka ʻai ʻana i ka papaʻai protein haʻahaʻa, akā paʻakikī ka poʻe he nui i kēia kapu. ʻO nā lāʻau lapaʻau, e like me NSAID a me ke olakino kino hiki ke kōkua i ke kōkua i ka ʻeha pū.

Ke hoʻomaka nei nā hoʻokolohua hoʻokolohua no nā lāʻau ʻē aʻe e mālama i kēia ʻano a no ka loiloi inā hāʻawi ka lāʻau nitisinone i kōkua lōʻihi no kēia maʻi.

Manaʻo ʻia he maikaʻi ka hopena.

ʻO ke kūkulu ʻia ʻana o ka waikawa homogentisic i ka cartilage ke kumu o ka maʻi kōkō i nā mākua he nui me ka alkaptonuria.

• Hiki i ka Homogentisic acid ke kūkulu aʻe ma luna o nā puʻuwai puʻuwai, ʻo ia hoʻi ka mitral valve. Hiki i kēia i kekahi manawa ke alakaʻi i ka pono no ka pani pani hou.
• Hiki ke ulu i ka maʻi o ke aʻa coronary i ke ola i ka poʻe me ka alkaptonuria.
• ʻO nā pōhaku hakuʻala a me nā pōhaku prostate e ʻike pinepine ʻia i ka poʻe me ka alkaptonuria.

Kāhea i kāu mea mālama ola inā ʻike ʻoe i kāu mimi ponoʻī a i ʻole ka mimi o kāu keiki i ʻeleʻele a i ʻeleʻele ke hōʻike ʻia i ka ea.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic no ka poʻe me ka moʻolelo ʻohana o alkaptonuria e noʻonoʻo nei i ka loaʻa ʻana o nā keiki.

Hiki ke hana ʻia kahi hōʻoia koko e ʻike inā lawe ʻoe i ka ʻāpana no ka alkaptonuria.

Hiki ke hana i nā hoʻokolohua Prenatal (amniocentesis a i ʻole chorionic villus sampling) e nānā i kahi pēpē e ulu ana no kēia ʻano inā ʻike ʻia ka loli.

AKU; Alcaptonuria; Deficit Homogentisic acid oxidase; Alcaptonuric ochronosis

James WD, Elston DM, Hana iā JR, Rosenbach MA, Neuhaus IM. Nā maʻi Mycobacterial. I: James WD, Elston DM, mālama iā JR, Rosenbach MA, Neuhaus IM, eds. Nā maʻi o ka ʻili ʻo Andrews. 13th ed. Piladelapia, PA: Elsevier; 2020: chap 16.

ʻO Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nā kīnā o ka metabolism o nā amino acid. I: Kliegman RM, St. Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 103.

Nā Kula Nui o ke Aupuni, National Library of Medicine. Ke aʻo lōʻihi o ka nitisinone e mālama ai i ka alkaptonuria. ʻO Clintrials.gov/ct2/show/NCT00107783. Hoʻohou i Ianuali 19, 2011. Loaʻa iā Mei 4, 2019.

ʻO Riley RS, ʻo McPherson RA. Ninaninau maʻamau o ka mimi. I: McPherson RA, Pincus MR, hua. ʻO kā Henry's Clinical Diagnosis a me Management e nā Laboratory Methods. 23rd Ed. St Louis, MO: Elsevier; 2017: chap 28.