Alkaptonuria: yintoni, iimpawu kunye nonyango

Umxholo

• Iimpawu alkaptonuria
• Kutheni le nto isenzeka
• Unyango lwenziwa njani

I-Alcaptonuria, ekwabizwa ngokuba yi-ochronosis, sisifo esinqabileyo esibonakaliswa yimpazamo kwimetabolism ye-amino acid phenylalanine kunye ne-tyrosine, ngenxa yenguquko encinci kwi-DNA, ekhokelela ekuqokelelekeni kwento emzimbeni phantsi kweemeko eziqhelekileyo. zichongwe egazini.

Njengomphumo wokuqokelelwa kwale nto, kukho iimpawu kunye neempawu zesi sifo, ezifana nomchamo omnyama, i-wax yendlebe eluhlaza, iintlungu kunye nokuqina kwamalungu kunye namabala eluswini nasendlebeni, umzekelo.

I-Alcaptonuria ayinyangeki, nangona kunjalo unyango luyanceda ukunciphisa iimpawu, kuyacetyiswa ukuba kulandelwe ukutya okuphantsi kukutya okune-phenylalanine kunye ne-tyrosine, ukongeza ekonyukeni kokutya kokutya okunevithamini C, njengelemoni, umzekelo.

Iimpawu alkaptonuria

Iimpawu ze-alcaptonuria zihlala zivela ebuntwaneni, xa umchamo umnyama kunye namabala eluswini nasezindlebeni, umzekelo, ziyaqatshelwa. Nangona kunjalo, abanye abantu baba neempawu kuphela emva kweminyaka engama-40, eyenza ukuba unyango lube nzima ngakumbi kwaye iimpawu zihlala zibi kakhulu.

Ngokubanzi, iimpawu ze-alkaptonuria zezi:

• Umnyama, phantse umchamo omnyama;
• I-wax yendlebe eluhlaza okwesibhakabhaka;
• Amabala amnyama kwinxalenye emhlophe yamehlo, ejikeleze indlebe kunye nengqula;
• Ukungeva;
• Isifo samathambo esibangela iintlungu ezidibeneyo kunye nentshukumo encinci;
• Ukuqina kwekartilage;
• Izintso kunye neprostate amatye, kwimeko yamadoda;
• Iingxaki zentliziyo.

Umbala omnyama unokuqokelelana esikhumbeni kwimimandla yekhwapha kunye ne-groin, ethi, xa ubile, udlulise iimpahla. Kuqhelekile ukuba umntu abe nobunzima bokuphefumla ngenxa yenkqubo yokuqina kwe-cartilage kunye nokudakumba ngenxa yokuqina kwembumba ye-hyaline. Kumanqanaba okugqibela esi sifo, iasidi inokuqokelelana kwimithambo kunye nemithambo yentliziyo, enokukhokelela kwiingxaki ezinzulu zentliziyo.

Ukuchongwa kwe-alkaptonuria kwenziwa ngokuhlalutya iimpawu, ikakhulu ngombala omnyama wesifo esivela kwiindawo ezahlukeneyo zomzimba, ukongeza kwiimvavanyo zaselebhu ezijolise ekufumaneni uxinzelelo lwe-homogentisic acid egazini, ikakhulu, okanye Ukufumanisa utshintsho kwiimviwo zeemolekyuli.

Kutheni le nto isenzeka

I-Alcaptonuria sisifo se-metosomal recessive metabolic isifo esibonakaliswa kukungabikho kwe-homogentisate dioxigenase enzyme ngenxa yotshintsho kwi-DNA. Le enzyme isebenza kwimetabolism yesakhi esiphakathi kwimetabolism ye-phenylalanine kunye ne-tyrosine, i-homogentisic acid.

Ke, ngenxa yokunqongophala kwale enzyme, kukho ukuqokelelwa kwale asidi emzimbeni, kukhokelela ekubonakaleni kweempawu zesifo, njengomchamo omnyama ngenxa yobukho be-asidi efanayo emchameni, ukubonakala kohlaza okwesibhakabhaka okanye amabala amnyama ebusweni naselweni kunye nentlungu nokuqina kwamehlo amalungu.

Unyango lwenziwa njani

Unyango lwe-alkaptonuria lunenjongo yokuthomalalisa iimpawu, kuba sisifo semfuza somntu oguqukayo. Ke, ukusetyenziswa kwe-analgesics okanye iziyobisi ezichasayo kunokucetyiswa ukuba kupheliswe iintlungu kunye nokuqina kwe-cartilage, ukongeza kwiiseshoni ze-physiotherapy, ezinokuthi zenziwe ngokungena kwe-corticosteroid, ukuphucula ukuhamba kwamalungu achaphazelekayo.

Ukongeza, kuyacetyiswa ukuba kulandelwe ukutya okuphantsi kwi-phenylalanine kunye ne-tyrosine, kuba zingaphambi kwe-homogentisic acid, ke kuyacetyiswa ukuthintela ukusetyenziswa kweecashews, iiamangile, amandongomane eBrazil, iiavokhado, amakhowa, iqanda elimhlophe, ibhanana, ubisi neembotyi, umzekelo.

Ukuthathwa kwe-vitamin C, okanye i-ascorbic acid, kukwacetyiswa njengonyango, kuba iyasebenza ekunciphiseni ukuqokelelwa kombala omdaka kwintlala nakwisifo samathambo.