Iyini i-Porphyria? Ake sifunde ngalesi sifo esingavamile ngamagama alula

Wake wazizwa ubuhlungu obukhulu esiswini obungazelelwe obungenakubucabanga? Noma uzwa ubuhlungu obungabekezeleleki njengama-blisters nokushisa lapho uphuma elangeni? Ngemuva kwalezi zinto, kungaba yisifo esingavamile esibizwa ngokuthi 'i-Porphyria', abantu abaningi ezweni lakithi abangakaze basizwe ngaso. Igama lingase lizwakale lingavamile, kodwa lesi yisimo esibangelwa inqubo yamakhemikhali emzimbeni wethu ehamba kabi. Ngakho ake sixoxe ngalokhu kalula, njengokungathi sitshela umngane.

Kalula nje, iyini i-Porphyria?

Ukuze siqonde lokhu, ake siqale sibheke igazi lethu. Igazi lethu libomvu ngombala futhi lithwala umoya-mpilo kuwo wonke umzimba ngoba liqukethe into ekhethekile ebizwa ngokuthi 'i-heme' . Ukukhiqizwa kwale 'heme' emzimbeni wethu kufana nomsebenzi wefektri enkulu. Kuyinqubo eyinkimbinkimbi eyenzeka ngezinyathelo eziyisishiyagalombili (8).

Cabanga ngokupheka ukudla. Kufanele wengeze izinto ezahlukene emazingeni ahlukene, isinyathelo ngesinyathelo. Ngokufanayo, kunezinhlobo ezikhethekile zamaprotheni abizwa ngokuthi ama-enzyme ukusiza ngesinyathelo ngasinye sokwenza lokhu 'i-heme'. Kukhona i-enzyme ehlukile yesinyathelo ngasinye.

I-Porphyria yenzeka lapho esinye salezi zinyathelo eziyisishiyagalombili siphazamiseka, futhi i-enzyme ebangela lokhu ingasebenzi kahle. Lokhu kusho ukuthi amakhemikhali abizwa ngokuthi ama-porphyrins kanye nama-porphyrin precursors, akhiqizwa ngesikhathi senqubo yokwenza i-heme, awasuswa emzimbeni futhi kunalokho aqala ukuqongelela ngaphakathi kwamaseli. Kufana nalapho umshini uphuka emgqeni wokukhiqiza wefektri, izimpahla ziyanqwabelana. Ukuqongelela kwala makhemikhali emzimbeni kuyimbangela yezimpawu ezahlukahlukene.

Ezimweni eziningi, imbangela yalokhu kuntuleka kwama-enzyme ukuguquka kwezakhi zofuzo okwenzeka emindenini. Lokhu kusho ukuthi kungenzeka ukuthi lesi simo sizokwenzeka emindenini. Kodwa ungakhathazeki, odokotela abanekhono bangasiza ekuxilongeni lesi simo, baphathe izimpawu, futhi banciphise umthelela esinawo empilweni yakho.

Yiziphi izinhlobo eziyinhloko ze-porphyria?

Kunezinhlobo eziyinhloko ezingaba ngu-8 ze-porphyria. Kodwa zonke zingahlukaniswa ngamaqembu amabili amakhulu ngokusekelwe ezimpawini zazo. Lokhu kulula kakhulu ukukukhumbula.

Manje ake sibheke izinhlobo ezincane zalezi zigaba ezimbili.

Izinhlobo ze-Acute Porphyrias

Lezi yizinhlobo ezibangela "ukuhlaselwa" okungazelelwe.

• I-Acute Intermittent Porphyria (AIP): Lena yiyo evame kakhulu ezinhlotsheni ze-acute. Ibangela ubuhlungu obukhulu besisu, kodwa ayinazo izinkinga zesikhumba.
• I-Hereditary Coproporphyria (HCP): Lokhu kungabangela ubuhlungu besisu kanye nama-blister esikhumbeni uma kuvezwa elangeni.
• I-Variegate Porphyria (VP): Lokhu kungabangela nobuhlungu besisu kanye nama-blister esikhumba.
• I-ALAD-Deficiency Porphyria: Lokhu akuvamile kakhulu. Izimpawu zivame ukuvela ebuntwaneni.

Izinhlobo ze-Cutaneous Porphyrias

Lezi yizinhlobo ezithinta isikhumba. Lezi zihlukaniswe ngezigaba ezimbili: lezo ezibangela amabhamuza kanye nalezo ezibangela ubuhlungu ngaphandle kwamabhamuza.

I-porphyria yesikhumba eqhumayo:

• I-Porphyria Cutanea Tarda (PCT): Lolu uhlobo oluvame kakhulu lwe-porphyria, futhi luvame ukwenzeka lapho umuntu esemdala.
• I-Congenital Erythropoietic Porphyria (CEP): Lesi yisimo esingavamile kakhulu nesinzima. Izimpawu zikhona lapho kuzalwa.

I-porphyria yesikhumba engaguquki:

• I-Erythropoietic Protoporphyria (EPP) kanye ne-X-linked Porphyria (XLP): Kulezi zinhlobo ezimbili, esikhundleni sokuba namabala, isikhumba siba buhlungu kakhulu, sivuvuke, sivuvuke, futhi sibe bomvu uma sichayeka elangeni.

Ziyini izimpawu zalesi sifo?

Izimpawu ziyahlukahluka kakhulu kuye ngohlobo lwe-porphyria onayo. Abanye abantu banezimpawu ezincane kakhulu, kanti abanye bangase babe nezimpawu ezinzima ezingasongela impilo. Abanye abantu bangase babe nalesi sakhi sofuzo kodwa bangalokothi babe nezimpawu nhlobo.

Ake sihlukanise lezi zici ngezigaba ukuze kube lula ukuziqonda.

Yiziphi izimbangela kanye nezimbangela ze-porphyria?

Njengoba sixoxile ngaphambili, isizathu esiyinhloko salokhu ukuguquka kwezakhi zofuzo. Kodwa into ebalulekile lapha ukuthi akuwona wonke umuntu onezakhi zofuzo ozoba nezimpawu. Abantu abaningi baphila njengabathwali balesi sakhi sofuzo ngaphandle kwezinkinga.

Ukuze "ukuhlaselwa" okunezimpawu ze-acute porphyria kwenzeke, kudingeka 'i-trigger' ethile. Lezi zimbangela zenza umzimba udinge 'i-heme' eyengeziwe, okubangela ukuthi ubuthakathaka kuleyo nqubo bubonakale, kanye namakhemikhali ayingozi aqongelele emzimbeni.

Nazi ezinye zezinto ezibangela lokhu:

• Ukwanda kwamazinga ama-hormone abesifazane: Ikakhulukazi ngezikhathi ezithile zomjikelezo wokuya esikhathini kwabesifazane wanyanga zonke.
• Imithi ethile: Isibonelo, eminye imithi yokubulala izinhlungu, imithi yokubulala izinzwa, kanye namaphilisi okulawula ukuzalwa.
• Ukuphuza utshwala ngokweqile.
• Ukubhema.
• Ukunciphisa ukudla: Ukuzila ukudla noma ukudla ukudla okunama-carbohydrate aphansi kakhulu.

Udokotela ukuthola kanjani lokhu?

Uma utshela udokotela wakho ngezimpawu zakho, uzokuhlola futhi akubuze ukuthi kukhona yini emndenini wakho oke waba nezimpawu ezifanayo. Ngenxa yokuthi i-porphyria iyisifo esingavamile, ngezinye izikhathi kungathatha isikhathi ukusixilonga ngokunembile.

Ukuhlolwa kwelebhu kwenziwa ikakhulukazi ukuqinisekisa ukuxilongwa.

• Ukuhlolwa komchamo: Ngesikhathi sokuhlasela kwe-acute porphyria, amazinga amakhemikhali abizwa ngokuthi i-ALA kanye ne-PBG emchameni aphezulu kakhulu. Lesi yisilingo esiyinhloko sokuthola lesi sifo.
• Ukuhlolwa kwegazi
• Ukuhlolwa kwendle

Lezi zivivinyo zingasiza ekunqumeni ukuthi hlobo luni lwe-porphyria onalo. Ngemuva kwalokho, uma kudingeka, ukuhlolwa kofuzo kungenziwa.Ngokwenza kanjalo, singaqinisekisa nokuthi yiluphi ushintsho lwezakhi zofuzo olubangele lokhu.

Iphathwa kanjani?

Izinketho zokwelapha ziyahlukahluka kuye ngohlobo lwe-porphyria onayo kanye nobukhali bezimpawu zakho. Udokotela wakho uzokwakha uhlelo lokwelapha olufanele wena.

Ukwelashwa kwe-Acute Porphyrias

Uma "uhlaselwe", ngokuvamile kufanele ulaliswe esibhedlela futhi welashwe .

• Umuthi obizwa ngokuthi 'iHemin' unikezwa ngemithambo ukuze kuncishiswe amazinga amakhemikhali ayingozi (i-ALA ne-PBG) aqongeleleke emzimbeni.
• Eminye imithi inikezwa ukulawula izimpawu ezifana nobuhlungu obukhulu, isicanucanu, kanye nokuxhuzula.
• Usawoti (i-IV fluids) unikezwa ukulungisa ukuphelelwa amanzi emzimbeni kanye namazinga kasawoti emzimbeni.
• Ukuze kuvinjelwe ukuphinda "ukuhlaselwa", kunganconywa ukujova njalo ngenyanga ngomuthi wokugomela i- Givosiran .
• Into ebaluleke kakhulu ukugwema izinto ezibangela lokhu esikhulume ngazo ngaphambili.

Ukwelashwa kwe-Cutaneous Porphyrias

Kulezi zinhlobo, ukwelashwa okubaluleke kakhulu nokuhamba phambili ukuvikela isikhumba.

Ngaphezu kwalokho, kunezinye izindlela zokwelapha kuye ngohlobo:

• Nge-EPP/XLP: Kukhona i-implant encane ebizwa ngokuthi 'i-Afamelanotide' efakwa ngaphansi kwesikhumba. Umuthi okhishwa kulokhu usiza ekunciphiseni ubuhlungu obuhambisana nokuchayeka elangeni.
• Nge-PCT:
• I-Phlebotomy: Ukuze kususwe i-iron eningi emzimbeni, kuthathwa igazi elincane ngezikhathi ezithile .
• I-Hydroxychloroquine: Lo muthi, osetshenziswa ngemithamo ephansi, usiza umzimba ukuqeda ama-porphyrins aqongelelwe emzimbeni ngomchamo.
• Nge-CEP: Ukuvikelwa okuqinile elangeni kubalulekile. Uma i-anemia inzima kakhulu, ukumpontshelwa igazi kungadingeka. Okuwukuphela kwendlela yokwelapha lesi sifo ngokuphelele ukufakelwa umnkantsha .

Ungaphila kanjani nalesi simo?

Uma usutholakale une-porphyria, impilo yakho izoshintsha kancane. Ukuhlolwa njalo nodokotela wakho kuzoba yingxenye yempilo yakho. Lokhu kubalulekile ukuqapha isimo nokubona ukuthi izinkinga ziyavela yini.

Ukuphila nesifo esingavamile njengalesi kungaba yinto ekucindezelayo ngokomzwelo. Ngezinye izikhathi ungase uzibuze ukuthi kungani lokhu kwenzeka kuwe wedwa. Khuluma nodokotela wakho, umndeni wakho, noma umngane omethembayo ngemizwa yakho. Ukujoyina iqembu lokusekela abantu abanalesi simo nakho kungaba usizo olukhulu. Khumbula ukuthi awuwedwa.