I-Porphyria ihlanganisa isifo se-Gunther futhi okungenani nezinye izimo eziyisikhombisa
I-Porphyria ibhekisela ezimweni okungenani eziyisishiyagalombili ezihlukile ezibangelwa yi-buildup ye-porphyrin yamakhemikhali. Abantu abane-porphyria abanakho okwanele ama-enzyme enza i-heme, into etholakala ematheni, amangqamuzana egazi abomvu nesibindi. Ukuntuleka kwe-enzyme kuvumela i-porphyrins, evame ukukhiqizwa kuwo wonke umzimba, ukuqoqa ngamanani anobuthi.
I-Porphyrias ijwayele ukuhlukaniswa ngezigaba ezimbili - i-acute futhi ayinayo. Lezi zimo ngokuvamile zithinta isimiso sezinzwa noma isikhumba. Isimo ngasinye sinezibonakaliso zayo nezimpawu zokwelapha. Ama-porphyrias acacile akhiqiza ukuhlaselwa kobuhlungu nemiphumela yezinzwa ezimbi futhi zivele ngokushesha. Izinhlobo ezinamandla zihlanganisa i-porphyria ephakathi, i-ALAD-deficiency porphyria, i-variegate porphyria, ne-coproporphyria enefa. Izinhlobo ezingezona eziyingozi ziyi-porphyria cutanea tarda, i-hepatoerythopoietic, ne-congenital erythropoietic porphyrias.
I-Porphyrias izifo ezingavamile. Kanye, kuthinta abantu abangaphansi kuka-200,000 e-United States.
I-Acute Intermittent Porphyria eqondile
I-porphyria ephakathi kakhulu (i-AIP) iyinhlobo enzima kunayo yonke ye-porphyria, ngokuhlaselwa okuqhubekayo ngaphezu kwamahora amaningana noma ezinsukwini ezimbalwa. Iningi labantu abazuze ifa le-AIP alinaso izimpawu. Izidakamizwa ezithile ziyaziwa ukuletha ukuhlaselwa okubi noma okubi nakakhulu, nokuphuza utshwala, ukudliwa, kanye nezinguquko ze-hormonal.
Ukuhlaselwa ngokuvamile kuhlanganisa ubuhlungu obukhulu besisu kanye nokuqothulwa futhi kungabandakanya ukuhlukunyezwa, ukuhlanza, ubuhlungu ngemuva, izingalo, nemilenze, ubuthakathaka bemisipha, kanye nokushaya kwenhliziyo okusheshayo, ukudideka nokugubha.
Izikhathi eziningi ukuhlaselwa kokuqala kwe-AIP kungase kungaboni kahle, futhi imithi enikeziwe ingenza izinto zibe zimbi nakakhulu isiguli.
Ukwelashwa kufanele kuhlanganise nokudla okuphezulu kwekhalori, nakuba lokhu kusiza ukukhulula ososayensi bokuhlasela akuqiniseki ngempela. Ukwelashwa kwe-Heme kungenziwa ngokulandelana. Izimpawu ngokuvamile zixazulula ngemuva kokuhlaselwa, kodwa ezinye iziguli zihlakulela umonakalo wezinzwa.
Eminye i-porphyrias ephawulekayo inezimpawu ezifana ne-AIP. U-ALAD-ukuntuleka kwe-porphyria akuvamile kakhulu. E-coproporphyria, i-skinensensitivity yesikhumba ingase ivele.
I-Porphyria Cutanea Tarda (i-PCT)
I-Porphyria cutanea tarda (i-PCT) iyona evame kakhulu kwe-porphyrias. I-PCT itholakele, okusho ukuthi ivela kumuntu ngenxa yezinto ezingaphandle. Lezi zici zingase zibe nezinsimbi, utshwala, igciwane lesifo sofuba, i-estrogens (njengamaphilisi okulawula ukubeletha), nokubhema - konke okungabangela ukuntuleka kwe-enzyme esibindi, okuholela ku-PCT.
Lapho evuliwe elangeni, isikhumba sishaya futhi isikhumba singase siphume futhi sibe mnyama. I-PCT ibhekwa njenge-porphyria ephathwa kakhulu. Uma izimpawu ziqala ukubonisa, ukususa i-pint eyodwa yegazi kwisiguli njalo kuya kwamasonto amabili (kuze kube ngu-5 noma amaphesenti angu-6 ephelele yegazi) kususa insimbi esibindile bese inikeza usizo. I-PCT ngokuvamile ayibuyanga emuva kokwelashwa.
Isifo Se-Gunther
I-congenital erythropoietic porphyria (CEP), eyaziwa nangokuthi isifo se-Gunther, ayifani kakhulu.
Izimpawu zesikhumba zesifo se-Gunther zingase zibe nzima. Ukungcola kwelanga kungabangela ukuqhuma, ukubhuka nokukhula kwezinwele. Isikhumba esithintekile singabamba amabhaktheriya, futhi izici zobuso kanye neminwe ingase ilahleke ngokulimala kwelanga nokutheleleka. I-Hepatoerythropoietic porphyria ibuye ibe yinto engavamile futhi ibangela ukugcoba isikhumba kufana nekaGenther's.
Protoporphyria erythropoietic
Isifo esihlobene ne-porphyrias yi-erythropoietic protoporphyria (EPP). EPPP, i-protoporphyrin iqoqa emnothweni wethambo, amangqamuzana egazi abomvu, nesibindi. Izimpawu ziboniswa esikhumbeni ngemuva kokuchayeka kwelanga. Lokhu kufaka ukuvuvukala, ukuvutha, ukucheka, nokubomvu.
Ukwehliswa nokuhlukunyezwa akuvamile kakhulu kunezinye izingxenye ze-porphyrias.
Izifo ze-porphyria zikhomba
Ukumekwa kwe-Chromosome kuye kwabona zonke izakhi zofuzo ezithintekayo kuma-enzyme angenaphutha ku-porphyrias. Ukuhlolwa kwe-DNA kungabonakalisa abantu abathwala enye yalezi zakhi zofuzo ezingalungile. Nokho, bambalwa ama-laboratories anikezela lolu hlobo lokuhlolwa. Ukuxilongwa kwangaphambi kokubeletha kokubeletha kwesifo sofuba se-porphyria sekubelethweni sekuye kwenziwa, kanye nokwelashwa kwegciwane eliphumelelayo kokubili i-CEP ne-EPP.
Imithombo:
I-American Porphyria Foundation (2015)
Keung, YK, Chuahirun, T., & Cobos, E. (2000). I-porphyria ephakathi kakhulu ne-seizure nokukhubazeka ku-puerperium. J Am Board Fam Pract, vol. 13, cha. 1, 76-79.
Lim, HW, & Cohen, JL (1999). I-porphyrias ene-cutaneous. I-Semin Cutan Med Surg, vol. 18, cha. 4, 285-292.