Alkaptonuria: menene menene, cututtuka da magani

Wadatacce

• Kwayar cututtukan alkaptonuria
• Me ya sa yake faruwa
• Yadda ake yin maganin

Alcaptonuria, wanda kuma ake kira ochronosis, cuta ce wacce ba a cika samunta ba wanda ke nuna kuskure a cikin amino acid din phenylalanine da tyrosine, saboda karamin maye gurbi a cikin DNA, wanda ya haifar da tara wani abu a cikin jiki wanda a yanayi na al'ada ba zai a gano a cikin jini.

Sakamakon tarin wannan sinadarin, akwai alamomi da alamomin cutar na yau da kullun, kamar fitsari mai duhu, kunar bakin kunne mai baci, zafi da kaurin gwiwa a gidajen abinci da tabo a fata da kunne, misali.

Alcaptonuria ba shi da magani, duk da haka maganin yana taimaka wajan rage alamomin, ana ba da shawarar bin tsarin abinci mai ƙarancin abinci mai ɗauke da phenylalanine da tyrosine, ban da ƙara yawan cin abinci mai wadataccen bitamin C, kamar su lemo, misali.

Kwayar cututtukan alkaptonuria

Kwayar cututtukan alcaptonuria galibi tana bayyana ne tun lokacin ƙuruciya, lokacin da aka lura da fitsari mai duhu da tabo a fata da kunnuwa, alal misali,. Koyaya, wasu mutane kawai suna zama masu cutar bayan shekaru 40, wanda ke sa magani ya zama mai wahala kuma alamomin galibi sunfi tsanani.

Gabaɗaya, alamun alkaptonuria sune:

• Duhu, kusan baƙar fitsari;
• Bluish kunnen kakin zuma;
• Black spots a kan farin ɓangare na ido, a kusa da kunne da maƙogwaro;
• Kurma;
• Arthritis wanda ke haifar da ciwon haɗin gwiwa da iyakance motsi;
• Tiarfin guringuntsi;
• Koda da duwatsu masu alaƙa, a yanayin maza;
• Matsalar zuciya.

Launin duhu zai iya tarawa akan fata a cikin yankuna na hamata da duwawu, wanda, lokacin da gumi, zai iya wucewa zuwa tufafin. Abu ne na yau da kullun ga mutum ya sami wahalar yin numfashi saboda aikin daskararren guringuntsi da kumburin fuska saboda taurin membrane na hyaline. A ƙarshen matakan cutar, asid yana iya taruwa a jijiyoyi da jijiyoyin zuciya, wanda hakan kan haifar da mummunar matsalar zuciya.

Ganewar cutar ta alkaptonuria ana yin ta ne ta hanyar nazarin alamomin, galibi ta yanayin duhu na halayyar cutar da ke bayyana a sassa daban-daban na jiki, ban da gwaje-gwajen gwaje-gwaje waɗanda ke nufin gano ƙimar sinadarin homogentisic a cikin jini, galibi, ko don gano maye gurbi ta hanyar binciken kwayoyin.

Me ya sa yake faruwa

Alcaptonuria shine cututtukan cututtukan da ke tattare da cututtukan jiki wanda ke nuna rashin rashi haɓakar haɓakar haɓakar dioxigenase saboda canjin DNA. Wannan enzyme yana aiki a cikin metabolism na matsakaiciyar mahadi a cikin metabolism na phenylalanine da tyrosine, homogentisic acid.

Don haka, saboda rashin wannan enzyme, akwai tarin wannan acid a jiki, wanda ke haifar da bayyanar alamomin cutar, kamar fitsari mai duhu saboda kasancewar acid mai kama da juna a cikin fitsarin, bayyanar bulu ko kuma duhu a fuska da ido da ciwo da taurin cikin idanu.

Yadda ake yin maganin

Maganin alkaptonuria yana da makasudin sauƙaƙe alamun, tunda cuta ce ta kwayar halitta ta halin komowa. Don haka, ana iya ba da shawarar yin amfani da analgesics ko anti-inflammatory anti-mai kumburi don sauƙaƙe ciwon haɗin gwiwa da ƙarancin guringuntsi, ban da zaman likitanci, wanda za a iya yi tare da kutsawar corticosteroid, don inganta motsi na haɗin da abin ya shafa.

Bugu da kari, an ba da shawarar bin tsarin rage cin abinci a cikin phenylalanine da tyrosine, tunda su magabatan homogenisic acid ne, don haka ana bada shawarar a guji cin kudin cashews, almond, kwayar Brazil, avocados, namomin kaza, farin kwai, ayaba, madara da wake, misali.

Hakanan ana ba da shawarar shan bitamin C, ko ascorbic acid, a matsayin magani, tunda yana da tasiri a rage haɗuwar launin launin ruwan kasa a cikin guringuntsi da ci gaba da amosanin gabbai.