Porphyria - isifo lesintu yesimanje

isifo porphyria uhlobo olukhethekile pathologies isibindi ezakhini zofuzo, lapho kukhona ngokuphelele ayilungile-hemoglobin zamagama. Kukholakala ukuthi kukhona eziyisishiyagalombili ngokulandelana okuthiwa izinyathelo enzymatic ku biosynthesis ka-hemoglobin. Noma yikuphi ukuphula at the stage of omunye wabo angase kakade kuholele inkinga ezifana porphyria. Lesi sifo ngokuvamile eba ngokushesha. Kulesi sihloko sizoxoxa ngokuningiliziwe kakhulu ngempela lesi sifo futhi yiziphi izindlela zanamuhla zokwelapha.

Porphyria - isifo lesintu yesimanje. Iyini indlela lesi sifo?

Ekuqaleni, non-amaprotheni ingxenye-hemoglobin (okwehlukile - heme) is iguqulwe ibe into enobuthi lapho yena, njalo ukudla kude ngokuphelele zonke izicubu ongama. Ngakho-ke, isikhumba kancane kancane Uthola tint sinombala, ekubeni ohlabayo ngokuhamba kwesikhathi, nokuthi kusukela ngqo kwelanga Ukuvutha. Yingakho iziguli ezinalesi sifo, ungathola Izilonda eziningi kanye nezibazi. Ngakho kancane kancane porphyria. Izifo, siphawula ukungabi ukwelashwa okufika ngesikhathi, ngokuvamile esiqukethe zonke izindawo ezintsha kwesikhumba.

izizathu

ukwephulwa Ngokulandelana ka-heme biosynthesis, okukhulunyiwe kancane ngenhla okwakubekelwa, kuholela ekuqongeleleni ngokweqile porphyrins e umzimba, kanye kangaka okuthiwa kokumethemba (isib ALA futhi porphobilinogen). Kwaba insalela yokugcina has umphumela onamandla anobuthi on the umzimba, ngenxa izimbangela kukhula kakade izimpawu zokwelashwa. Isizathu ukuphulwa esinjalo ngokuguqula izakhi isakhi sofuzo esiyimbangela yalesi umsebenzi enzyme ethile ebandakanyeke multi-step synthesis heme. Okwamanje, ososayensi benza ucwaningo eningiliziwe ngala izinqubo kanye lesi sifo njengoba porphyria.

izimpawu Izifo

• Ukulimala isimiso sezinzwa esiyinhloko.
• Umchamo abe luhlaza Pinkish.
• Izilonda eminingi izibazi emzimbeni.
• Izinhlungu nokuphatheka kabi endaweni besisu.
• igazi Ukwandiswa ingcindezi.

Yini okufanele baphathwe?

Ngeshwa, ngaleso sikhathi, izazi akukwazi ukunikeza izindlela eziphumelelayo zokwelapha izici pathogenetic yalesi sifo. Kwezinye izimo (isib uroporfiriya erythropoietic) ukwelashwa ungalunga. porphyria Kweseva (isifo esigabeni acute) ngokuphelele ungavumeli ukusetshenziswa dipyrone futhi zinhlungu, njengoba kubangele exacerbation izimpawu. Ephambi kwezinduna ubuhlungu izifo ezifana porphyria, njengoba umthetho, sicacisa izidakamizwa eziqine.

isiphetho

isifo Porphyria (inombolo isithombe 1 ikhombisa omunye zako), ngeshwa sitholakale kulezi zinsuku kaningi. Ekuphetheni, kufanele kuphawulwe ukuthi namuhla lolu hlobo isifo namanje uhlala kahle aziwayo. Ososayensi ezivela emhlabeni wonke bayaqhubeka ukuphenya nomnyombo, izimpawu zokwelashwa eyinhloko, kanye izindlela zokunqanda inkinga ezingemnandi ezinjalo. Hlala uphilile!