Alkaptonuria: kuyini, izimpawu kanye nokwelashwa

-Delile

• Izimpawu ze-alkaptonuria
• Kungani kwenzeka
• Yelashwa kanjani

I-Alcaptonuria, ebizwa nangokuthi i-ochronosis, yisifo esingajwayelekile esivezwa yiphutha ekuguqulweni komzimba kwama-amino acids i-phenylalanine ne-tyrosine, ngenxa yokuguquka okuncane kwi-DNA, okuholele ekuqongeleleni kwento emzimbeni ngaphansi kwezimo ezijwayelekile zikhonjwe egazini.

Njengomphumela wokuqongelelwa kwalesi sakhi, kunezibonakaliso nezimpawu ezifana nalesi sifo, njengomchamo omnyama, i-wax endlebe eluhlaza okwesibhakabhaka, ubuhlungu nokuqina kwamalunga namabala esikhunjeni nasendlebeni, ngokwesibonelo.

I-Alcaptonuria ayinawo umuthi, noma kunjalo ukwelashwa kusiza ukunciphisa izimpawu, kunconywa ukuthi ulandele ukudla okuncane kokudla okuqukethe i-phenylalanine ne-tyrosine, ngaphezu kokudla okwandayo kokudla okunothe ku-vitamin C, njenge-lemon, ngokwesibonelo.

Izimpawu ze-alkaptonuria

Izimpawu ze-alcaptonuria zivame ukuvela zisencane, lapho umchamo omnyama namabala esikhunjeni nasezindlebeni, isibonelo, kubonakala. Kodwa-ke, abanye abantu baba nezimpawu kuphela ngemuva kweminyaka engama-40, okwenza ukwelashwa kube nzima kakhulu futhi izimpawu zivame ukuba zimbi kakhulu.

Ngokuvamile, izimpawu ze-alkaptonuria yilezi:

• Umnyama, cishe umchamo omnyama;
• I-wax yendlebe eluhlaza okwesibhakabhaka;
• Amabala amnyama engxenyeni emhlophe yeso, azungeze indlebe nomphimbo;
• Izithulu;
• I-arthritis ebangela ubuhlungu obuhlangene nokunyakaza okulinganiselwe;
• Ukuqina koqwanga;
• Izinso nezinso ze-prostate, esimweni samadoda;
• Izinkinga zenhliziyo.

Umbala omnyama unganqwabelana esikhunjeni ezindaweni zomakhwapheni nasemgodini, okuthi lapho ujuluka, ungadlulela ezingutsheni. Kujwayelekile ukuthi umuntu abenenkinga yokuphefumula ngenxa yenqubo yoqatha olubizayo kanye nokuhhahhasha ngenxa yokuqina kolwelwesi lwe-hyaline. Esigabeni sokugcina sesifo, i-asidi inganqwabelana emithanjeni nasemithanjeni yenhliziyo, okungaholela ezinkingeni zenhliziyo ezinkulu.

Ukuxilongwa kwe-alkaptonuria kwenziwa ngokuhlaziya izimpawu, ikakhulukazi ngesici sombala omnyama wesifo esivela ezingxenyeni ezahlukahlukene zomzimba, ngaphezu kwezivivinyo zaselabhoratri ezihlose ukuthola ukugxila kwe-homogentisic acid egazini, ikakhulu, noma ukuthola ukuguquka kokuhlolwa kwamangqamuzana.

Kungani kwenzeka

I-Alcaptonuria yisifo se-metosomal recessive metabolic esibonakala ngokungabikho kwe-enzyme ye-homogentisate dioxigenase ngenxa yokushintsha kwe-DNA. Le enzyme isebenza ekusetshenzisweni kokuhlanganiswa komzimba okuphakathi nendawo ku-metabolism ye-phenylalanine ne-tyrosine, i-homogentisic acid.

Ngakho-ke, ngenxa yokushoda kwale enzyme, kunqwabelana kwale asidi emzimbeni, okuholela ekubonakaleni kwezimpawu zalesi sifo, njengomchamo omnyama ngenxa yobukhona be-asidi ehambisanayo emchameni, ukubukeka okwesibhakabhaka noma amabala amnyama ebusweni nasemehlweni nobuhlungu nokuqina kwamehlo amalunga.

Yelashwa kanjani

Ukwelashwa kwe-alkaptonuria kunenhloso yokuqeda izimpawu, ngoba kuyisifo sofuzo somuntu oguquguqukayo. Ngakho-ke, ukusetshenziswa kwama-analgesics noma izidakamizwa ezilwa nokuvuvukala kunganconywa ukuqeda izinhlungu ezihlangene kanye nokuqina koqwanga, ngaphezu kwezikhathi ze-physiotherapy, ezingenziwa ngokungena kwe-corticosteroid, ukwenza ngcono ukuhamba kwamalunga athintekile.

Ngaphezu kwalokho, kunconywa ukuthi ulandele ukudla okuphansi kwe-phenylalanine ne-tyrosine, ngoba kuyizandulela ze-homogentisic acid, ngakho-ke kunconywa ukugwema ukusetshenziswa kwama-cashews, ama-alimondi, amantongomane aseBrazil, ukwatapheya, amakhowe, iqanda elimhlophe, ubhanana, ubisi nobhontshisi, isibonelo.

Ukufakwa kukavithamini C, noma i-ascorbic acid, kuphakanyiswa njengokwelashwa, ngoba kuyasebenza ekwehliseni ukuqoqwa kwezingulube ezinsundu kuqwanga nokukhulisa isifo samathambo.