I-Porphyria - isifo somntu wanamhlanje

Isifo sePorphyria luhlobo olukhethekileyo lwe-pathology yebindi kwi-genetic level, apho i-hemoglobin ephosakeleyo ingabonakaliyo. Kukholelwa ukuba kwi-biosynthesis ye-hemoglobin ngokwayo zikho ezisibhozo ezilandelelanayo, ezibizwa ngokuba ngamanyathelo enzymatic. Nakuphi na ukuphulwa kwinqanaba lomnye wabo kunokukhokelela ekuphuhlisweni kwengxaki enjengo-porphyria. Izifo, njengomthetho, zikhula ngamazinga okukhawuleza. Kule nqaku, siza kuchaza ngokubanzi ngangoko kunokwenzeka ukuba siyintoni na isifo nokuba zeziphi iindlela zamanje zonyango.

I-Porphyria isifo sesintu sangoku. Iyintoni indlela yokuphuhliswa kwesifo?

Ekuqaleni, inxalenye engeyona prothini ye-hemoglobin (ngaphandle kwalokho-heme) iya kuba yinto enetyhefu, leyo leyo, ibuye ihlasele ngokupheleleyo zonke izicubu ezincinci ezikhoyo. Ngoko, kancinci isikhumba sithola i-hue e-brownish, kunye nexesha liba lincinci, kwaye ukuphuma ngokukhawuleza kukukhanya kwelanga. Kungenxa yoko izigulane ezinezi zifo ziyakwazi ukubona izilonda ezininzi kunye nezibazi. Ngoko ngokukhawuleza ikhula i-porphyria. Izifo, siyaqaphela, ngokungabikho kwonyango olufike ngexesha, njengomthetho, uthatha yonke indawo emitsha yesikhumba.

Izizathu

Ukuphazamiseka okubangelwa yi-heme biosynthesis ngokwayo, exoxwa ngasentla, ibangela ukuqokelela ngokweqile emzimbeni we-porphyrins, kunye nababizwa ngokuba yi-precursors (umzekelo, porphobilinogen kunye ne-aminolevulinic acid). Ingaphezulu kwexesha elidlulileyo elinomthelela onamandla kakhulu onobungozi emzimbeni ngokwawo, ngenxa yoko, kubangela ukuba sele ivelise iimpawu zekliniki. Isizathu salezi ngxaki ziguqulwa kwezinto eziphathekayo ezijongene nemisebenzi yezinye i-enzymes ezibandakanyeka kwi-hematic heme synthesis synthesis. Okwangoku, izazinzulu zibandakanya ukuphononongwa ngokubanzi kwazo zonke ezi nkqubo kunye nokugula, njenge-porphyria.

Izifo: Izimpawu

• Ukutshatyalaliswa kwenkqubo yesantya.
• Ukukhutshwa kwe-urinal of hue pinkish.
• Izilonda ezininzi kunye namacwecwe emzimbeni.
• Ubuhlungu kunye nokuphazamiseka esiswini.
• Ukwandiswa kwengcinezelo yegazi.

Yintoni ekufuneka yonyango?

Ngelishwa, okwangoku, okwangoku iingcali azikwazi ukubonelela ngeendlela ezichanekileyo zonyango lwe-pathogenetic yesi sifo. Kwezinye iimeko (umzekelo, i-erythropoietic uroporphyria), unyango lunokusebenza. I-pormia ephakathi (i-acute disease) ayizivumeli ukusetyenziswa kwe-analgin kunye nezoxilongo, kuba zibangele ukugqithisa kwazo zonke iimpawu. Ekubeni kwintlungu yesifo esinesifo esinjalo njenge-porphyria, njengommiselo, izilwanyana ezinobuncwane ezinamandla kunqunyelwe.

Isiphelo

Isifo se-porphyria (isithombe esinguNombolo 1 sibonisa enye yobonakaliso bayo), ngelishwa, ixilongwa njengamhlanje ngokuqhelekileyo. Ekupheliseni, ku funeka kuqatshelwe ukuba namhlanje olu hlobo lwesifo aluhlali luqondwe kakuhle. Izazinzulu ezivela kulo lonke ihlabathi ziyaqhubeka ziphanda izizathu ezibalulekileyo zokuqala, iimpawu eziphambili zekliniki kunye neendlela zokulwa neengxaki ezinjalo. Yimpilo!