Wake wezwa nge-"Porphyria"? Ake sixoxe ngalesi sifo esingavamile!

Inqubo eyinkimbinkimbi kakhulu futhi emangalisayo eyenzeka emzimbeni wakho ukukhiqizwa kwento ebizwa ngokuthi "iHeme". Le Heme ibalulekile ekukhiqizweni kweHemoglobin, ebangela umbala obomvu wegazi lethu futhi ithwala umoya-mpilo emzimbeni wonke. Akukhona lokho kuphela, kodwa le Heme iyasiza kweminye imisebenzi eminingi ebalulekile ngaphakathi kwamaseli ethu. Kodwa-ke, ngezinye izikhathi inqubo yokukhiqiza le Heme ingahamba kabi. Yilapho izimo zeqembu elingavamile lezifo ezibizwa ngokuthi "iPorphyria" zenzeka khona. Ungakhathazeki, ake sixoxe ngalokhu kalula.

Iyini ngempela iPorphyria?

Kalula nje, i-porphyria igama elivamile leqembu lezifo ezingavamile ezithinta inqubo yokukhiqiza i-heme emzimbeni wethu. Cabanga ngale ndlela, ukwenza i-heme kufana nenqubo eyinkimbinkimbi enezinyathelo eziyisishiyagalombili. Isinyathelo ngasinye sidinga ama-enzyme akhethekile ayisishiyagalombili ukuze asebenze kahle. Ama-enzyme angamaphrotheni asheshisa ukusabela kwamakhemikhali emzimbeni wethu. Amakhemikhali abizwa ngokuthi "ama-porphyrins" kanye "nama-porphyrin precursors" nawo ahilelekile kule nqubo.

Manje cabanga ngakho, kwenzekani uma i-enzyme kwenye yalezi zinyathelo eziyisishiyagalombili ingasebenzi kahle? Yilapho inkinga iqala khona. Njengokusabela kwe-chain, lapho leyo enzyme ingasebenzi, ama-porphyrins kanye nama-porphyrin precursors afika ngaphambi kokuba aqale ukuqongelela ngaphakathi kwamaseli omzimba. Yilokhu kuqongelela kwamakhemikhali okubangela izimpawu ze-porphyria.

Ungase uzibuze, "Kungani le enzyme ingasebenzi kahle?" Ngokuvamile, imbangela kuba ukuguquka kwezakhi zofuzo. Okusho ukuthi, kukhona ushintsho ku-gene olukhomba i-enzyme ehilelekile enkambisweni yokwenza i-heme. Lesi sifo, esibizwa ngokuthi i-porphyria, sivame ukudluliselwa njengefa. Okusho ukuthi, lokhu kuguquka kwezakhi zofuzo kungadluliselwa kwamanye amalungu omndeni. Uma lokho kwenzeka, bangase babe ne-porphyria noma babe abathwali besifo.

Kodwa ungakhathazeki. Uma uthola ukuthi unalesi simo, odokotela bangakusiza ukuthi uphathe izimpawu zakho, futhi mhlawumbe bazivimbele. Lokhu kungasiza ekunciphiseni umthelela lezi zimo ezinawo empilweni yakho.

Ingabe zikhona izinhlobo ze-porphyria?

Yebo, kunezinhlobo ezingaba yisishiyagalombili ze-porphyria. Odokotela bazibiza zonke ngokuthi “ama-porphyria.” Odokotela bazonquma ukuthi yiluphi uhlobo lwe-porphyria onalo ngokusekelwe ezimpawini zakho nokuthi lawo makhemikhali engeziwe engikhulume ngawo ekuqaleni aqoqana kuphi emzimbeni wakho.

Ngokuvamile, lezi zinhlobo ze-porphyria zingahlukaniswa ngamaqembu amabili amakhulu ngokusekelwe ezimpawini zazo:

• I-Acute Porphyrias (ngezinye izikhathi ibizwa ngokuthi "i-Acute Hepatic Porphyrias")
• Ama-Porphyria Anesikhumba

I-Porphyria Ebukhali

Leli qembu lezifo lingabangela ubuhlungu obukhulu besisu kanye nezinye izimpawu. Ezinye izinhlobo ze-acute porphyrias zingenza isikhumba sakho sizwele elangeni futhi sibangele amabhamuza esikhumba.

Nazi ezinye izinhlobo ze-acute porphyrias:

• I-Acute Intermittent Porphyria (AIP): Lolu uhlobo oluvame kakhulu lwe-acute porphyria. Ingabangela ubuhlungu obungazelelwe, obukhulu besisu, kodwa akukho ukuzwela elangeni noma ukusha kwesikhumba.
• I-Hereditary Coproporphyria (HCP): Kanye nobuhlungu besisu obungazelelwe, isikhumba sakho singase sizwele elangeni kanye nama-blister.
• I-Variegate Porphyria (VP): Kulesi simo, ungase ube nokuqaqamba kwesisu okungazelelwe kanye/noma amabhamuza esikhumba. Lokhu kungaba kubi kakhulu uma ubhekene nelanga.
• I-porphyria yokuntuleka kwe-ALAD: I-ALAD imele i-enzyme ethi "delta-aminolevulinic acid (ALA) dehydratase". Lolu uhlobo olungavamile kakhulu lwe-porphyria, oluvame ukukhombisa izimpawu ebuntwaneni.

Ama-Porphyria Anesikhumba

Leli qembu lezifo libangela izimpawu zesikhumba uma livezwa elangeni. Lokhu kungafaka phakathi ubuhlungu, ukushintsha kombala wesikhumba, ukuvuvukala, kanye/noma ukuqubuka. Kuye ngembangela eyinhloko, abanye abantu bangase babe nohlobo lokuqubuka kwesikhumba olubizwa ngokuthi i-Cutaneous Porphyrias, kanti abanye bangase bangabi nohlobo lokuqubuka.

Izinhlobo ze-Blistering Cutaneous Porphyrias:

• I-Porphyria Cutanea Tarda (PCT): Lolu uhlobo oluvame kakhulu lwe-porphyria.
• I-Congenital Erythropoietic Porphyria (CEP): I-"Erythropoietic" ibhekisela kumongo wakho wamathambo. Lena yindawo eyinhloko lapho ama-porphyrins engeziwe eqongelela khona kulesi sifo. Lolu futhi uhlobo olungavamile kakhulu lwe-porphyria.

Izinhlobo ze-Porphyrias Ezingaqhumisi:

• I-Erythropoietic Protoporphyria (EPP) kanye ne-X-linked Porphyria (XLP): Lezi zibizwa nangokuthi "ama-protoporphyria" ngoba ikhemikhali eqoqana kulezi zifo yi-"protoporphyrin." I-"X-linked" isho ukuthi kukhona ukuguquka kwezakhi zofuzo ku-chromosome ye-X.
• I-porphyria ye-hepatoerythropoietic:Lolu futhi uhlobo olungavamile kakhulu lwe-porphyria.

Ziyini izimpawu ze-Porphyria?

Izimpawu ozizwayo nokuthi zihlala isikhathi esingakanani zizoncika ohlotsheni lwe-porphyria onayo. Izimpawu zingaba zincane kakhulu noma zibe zimbi kakhulu. Abanye abantu abane-porphyria bangase bangabi nazo nhlobo izimpawu. Kodwa-ke, kwezinye izimo, lezi zimpawu zingaba yingozi empilweni uma zingelashwa kahle.

Izimpawu ze-Acute Porphyria

Ama-porphyria abukhali abangelwa ukwanda kwama-heme precursors i-aminolevulinic acid (ALA) kanye ne-porphobilinogen (PBG). Lezi zinto zithinta indlela uhlelo lwakho lwezinzwa olusebenza ngayo. Cabanga ngakho, konke kusukela ekunyakaziseni imisipha yakho kuya ekugayeni ukudla kulawulwa uhlelo lwezinzwa. I-Porphyria ibangela uhlelo lwezinzwa ukuba lungasebenzi kahle, okubangela izimpawu ngendlela "yokuhlaselwa."

I-porphyria ebukhali ingabangela izimpawu ezifana nalezi:

• Ubuhlungu obukhulu besisu
• Isicanucanu nokuhlanza
• Ukuqunjelwa
• Ubuhlungu esifubeni, emhlane, ezingalweni, kanye/noma emilenzeni
• Ukukhathazeka
• Ukungalali
• Izinguquko zengqondo ezifana nokudideka, ukucasuka, kanye nokubona izinto ezingekho
• Umsebenzi onzima
• Inhliziyo esheshayo (i-Tachycardia)
• Umfutho wegazi ophakeme
• Ubuhlungu, umuzwa wokucasuka (i-Paresthesia)
• Ubuthakathaka bemisipha noma ukukhubazeka (lokhu kungathinta nemisipha ekusiza ukuphefumula)
• Ukuquleka
• Umchamo omnyama noma obomvu (ama-porphyrins namanye amakhemikhali angashintsha umbala womchamo)

Uma une-coproporphyria ``(HCP)`` noma i-variegate porphyria ``(VP)``, isikhumba sakho singase sibe nomuzwa wokukhanya kwelanga. Ukuchayeka elangeni kungabangela amabhamuza, ukushintsha kombala wesikhumba, kanye/noma izibazi.

I-acute porphyria ingahlala isikhathi esingakanani?

Ukuhlasela okunje kungahlala izinsuku ezintathu kuya kweziyisikhombisa. Kodwa, ikakhulukazi uma kungelashwa, kungahlala isikhathi eside kakhulu. Kungathatha amasonto kuya ezinyangeni ukuthi izimpawu ziphele ngokuphelele. Ungase ube nokuhlasela okukodwa noma okumbalwa empilweni yakho. Kodwa-ke, abanye abantu bangase babe nokuhlaselwa okuningana ngonyaka.

I-porphyria ebukhali ingabangela izinkinga zesikhathi eside njengomfutho wegazi ophakeme, ukwehluleka kwezinso, kanye nomdlavuza wesibindi ongavamile.

Izimpawu ze-Non-blistering Cutaneous Porphyrias (EPP/XLP)

Ama-porphyria esikhumba abangela izimpawu zesikhumba uma ubhekene nokukhanya kwelanga. Lokhu kufaka phakathi ukukhanya kwelanga okuqondile ngaphandle, kanye nokukhanya kwelanga okungena ngamafasitela. Ezinye izinhlobo zokukhanya okwenziwe nazo zingabangela izimpawu. Lolu hlobo lwe-porphyria alubangeli ubuhlungu besisu obungazelelwe, obukhulu noma ezinye izimpawu ezivamile "ekuhlaselweni."

Uma uqala ukuba nokusabela elangeni, ungase uzizwe uthukuthele ekuqaleni. Uma ungaphumi ngokushesha elangeni, ungase ube nalokho odokotela abakubiza ngokuthi "ukusabela okunobuthi obuvela elangeni." Ungase ube nezimpawu zesikhumba ezinjengalezi, ikakhulukazi ebusweni bakho, ezandleni nasezinyaweni:

• Ukuluma
• Ukuba ndikindiki
• Ukuvuvukala
• Ubuhlungu obukhulu endaweni ethintekile
• Amabala amancane ansomi, abomvu, noma ansundu esikhumbeni (`(Petechiae)`)

Lokhu kusabela kubuhlungu kakhulu futhi kuvame ukuthatha izinsuku ezimbili kuya kwezinhlanu. Kufanele uzame ukuhlala endlini upholise izindawo ezithintekile (isibonelo, ngomoya obandayo ovela ku-air conditioner).

Izimpawu ze-Blistering Cutaneous Porphyrias

I-Porphyria Cutanea Tarda (PCT)

Abantu abane-PCT bangase babe nezimpawu ezifana nalezi:

• Ama-blister esikhumba (ngokuvamile ahlala ngemuva kwezandla)
• Izibazi
• Ukushintsha kombala wesikhumba
• Ukuqina kwesikhumba
• Isikhumba esibuthakathaka esidabuka kalula ngisho nangokulimala okuncane noma ingcindezi
• Ukukhula kwezinwele ngokweqile (ngokuvamile ebusweni, ezinhlangothini zebunzi, noma ezindaweni ezifana nesilevu)

I-Congenital Erythropoietic Porphyria (CEP)

Lolu hlobo olubi lwe-porphyria luqala ukukhombisa izimpawu ngokushesha nje ngemva kokuzalwa noma esemncane kakhulu. Uphawu lokuqala umchamo obomvu. Ngenxa yokuthi amanabukeni omntwana anombala obomvu, odokotela bavame ukulingeka ukuthi baqale bahlole ukutheleleka komgudu womchamo.

Ezinye izimpawu nezimpawu ze-CEP zifaka:

• Isikhumba siqhuma kakhulu ngisho noma sichayeke elangeni elincane noma ekukhanyeni okukhanyayo
• Ama-blister ayatheleleka, okubangela ukutheleleka kwamathambo kanye nokulimala kwamathambo
• Ukulahlekelwa ezinye izingxenye zobuso (indlebe kanye ne-cartilage yamakhala)
• Amazinyo aphenduka abe nsundu ngokumpunga
• I-anemia - Lokhu kusho ukuntuleka kwamaseli abomvu egazini. Ngezinye izikhathi ukumpontshelwa igazi kuyadingeka.
• Ukwandiswa kwe-spleen
• Inani lama-platelet aphansi (`(Inani lama-platelet aphansi)`)

Ziyini izimbangela ze-porphyria?

I-porphyria ebukhali ibangelwa izinguquko ezakhiweni ezithile zofuzo. Kodwa-ke, ukuthi nje uzuze ushintsho lwezakhi zofuzo akusho ukuthi uzoba nezimpawu ze-porphyria.Abantu abaningi abanezinguquko zofuzo ezihlobene ne-porphyria abanazo izimpawu. Lokhu kusho ukuthi ukuhlolwa kofuzo kukodwa akukwazi ukuqinisekisa ukuxilongwa. Indlela kuphela yokwazi ngokuqinisekile ukuthi izimpawu zakho zibangelwa yi-acute porphyria ukuhlola umchamo wakho ukuze kutholakale amazinga e-ALA kanye ne-PBG.

Ochwepheshe bacabanga ukuthi ezinye izinto, njengama-hormone, imithi ethile, nalokho okudlayo nokuphuzayo, kudlala indima enkulu ekuqaleni kokuhlaselwa okukhulu. Uma uzalwa une-genetic mutation ehlobene ne-acute porphyria, lezi ezinye izinto zingenza ukuhlaselwa kube kubi kakhulu.

Izinto ezingabangela lolu hlobo lokuhlaselwa yilezi:

• Amazinga aphezulu ama-hormone ocansi abesifazane (isibonelo, ngesikhathi sesigaba se-luteal somjikelezo wakho wokuya esikhathini wanyanga zonke)
• Eminye imithi (isibonelo, amaphilisi okulala, amaphilisi okuvimbela inzalo)
• Ukuphuza ngokweqile
• Ukubhema
• Ukudla ama-carbohydrate aphansi (isibonelo, uma uzila ukudla noma ulandela ukudla okukhethekile)

Izimbangela zePorphyria Cutanea Tarda (PCT)

I-PCT uhlobo lwe-porphyria oluvame ukwenzeka kubantu abadala, futhi luhlukile kancane kwezinye izinhlobo ze-porphyria. Odokotela bayibiza ngokuthi "izimbangela ezitholakale." Lokhu kusho ukuthi ungasithola lesi simo noma ungenalo uguquko lwezakhi zofuzo.

Ngokuvamile, izici ezimbili noma ngaphezulu eziyingozi ziyahlangana ukuze ziphazamise ukukhiqizwa kwe-heme okuvamile. Izici ezinjalo zifaka:

• Ukusetshenziswa kwe-estrogen (isibonelo, amaphilisi okuvimbela inzalo noma ukwelashwa kokufaka ama-hormone esikhundleni)
• Ukuphuza ngokweqile
• Amazinga ensimbi akhuphukile emzimbeni (`(Ukwanda kwensimbi / i-hemochromatosis)`)
• Ukutheleleka kwe-Hepatitis C
• Ukutheleleka nge-HIV
• Ukubhema

Odokotela basithola kanjani lesi sifo?

Odokotela baxilonga i-porphyria ngokukuhlola ngokomzimba nangokwenza izivivinyo zelebhu. Ungase ube nokuhlolwa okukodwa noma ngaphezulu kwalokhu:

• Ukuhlolwa kwegazi
• Ukuhlolwa komchamo
• Ukuhlolwa kwendle

Udokotela wakho uzochaza ukuthi yiziphi izivivinyo okudingeka uzenze nokuthi yini ukuhlolwa ngakunye okungayithola. Udokotela wakho angase futhi ancome ukuhlolwa kwezakhi zofuzo kuwe nakwabanye emndenini wakho. Lokhu kungakhomba izinguquko ezithile zezakhi zofuzo ezingabangela i-porphyria.

Iphathwa kanjani i-porphyria?

Izinketho zokwelapha zincike ohlotsheni lwe-porphyria onayo nokuthi ikuthinta kanjani. Udokotela wakho uzochaza ukuthi yini engcono kakhulu ngesimo sakho esithile. Nazi ezinye izinto ezijwayelekile ongazilindela.

Ukwelashwa kwe-Acute Porphyrias

Uma une-acute porphyria, kungadingeka ukuthi ulaliswe esibhedlela ukuze uthole ukwelashwa uma "uhlaselwa." Esibhedlela, odokotela bazokwenza okukodwa noma ngaphezulu kwalokhu okulandelayo:

• Ukunikeza imithi yokwehlisa amazinga e-ALA kanye ne-PBG (i-hemin infusion)
• Ukunikeza imithi yokulawula ubuhlungu, isicanucanu, kanye/noma isimo sokuwa
• Ukunikeza uketshezi olungena emthanjeni (nge-IV)
• Ukuqapha amazinga akho e-electrolyte nokuwagcwalisa kabusha uma kudingeka
• Ukunaka izinguquko esimweni sakho sengqondo

Ukuze kusizwe ekuvimbeleni ukuhlaselwa esikhathini esizayo, udokotela wakho angase akunike umuthi obizwa ngokuthi i-givosiran. Lona umjovo wanyanga zonke ovimba ukukhiqizwa ngokweqile kwe-ALA kanye ne-PBG.

Kuzodingeka futhi ugweme izinto ezibangela lokhu okulandelayo:

• Eminye imithi
• Ukuzila ukudla kanye nezindlela ezithile zokunciphisa amakhalori
• Ukusetshenziswa kotshwala
• Ukusetshenziswa kukagwayi
• Ukuchayeka elangeni (uma une-VP noma i-HCP)

Ukwelashwa kwe-Cutaneous Porphyrias

Kungakhathaliseki ukuthi uluhlobo luni lwe-Cutaneous Porphyria, kubalulekile ukuvikela isikhumba sakho ukuze uvimbele izimpawu. I-sunscreen yodwa akwanele. Into engcono kakhulu ongayenza ukugwema ukuba selangeni ngangokunokwenzeka. Uma kufanele ube selangeni, gqoka izingubo ezivikela ilanga. Udokotela wakho uzokweluleka ngokuthi yini engcono kakhulu kuwe. Kungase kudingeke futhi ugweme ezinye izinhlobo zokukhanya okwenziwe.

Ukwelashwa kwe-EPP/XLP

Udokotela wakho angase akunike umuthi obizwa ngokuthi i-afamelanotide. Lokhu kuyi-implant encane kakhulu. Udokotela wakho uzoyibeka ngaphansi kwesikhumba esiswini sakho. Umuthi okhishwa yi-implant uzosiza ekunciphiseni izimpawu ezibuhlungu ezibangelwa ukuchayeka elangeni. Udokotela wakho uzophinde aqaphe ukusebenza kwesibindi sakho njalo futhi aqinisekise ukuthi amazinga akho e-vitamin D awaphansi.

Abantu abane-EPP/XLP banamathuba amaningi okuthola amatshe enyongo. Ezinye iziguli ze-EPP/XLP zingase zibe nokukhubazeka kwesibindi. Ezimweni ezimbi kakhulu, kungase kube nokwehluleka kwesibindi. Lokhu kungadinga ukufakelwa isibindi, ngezinye izikhathi kulandelwe ukufakelwa umnkantsha.

Ukwelashwa kwe-PCT

Udokotela angase anikeze izinto ezifana nalezi:

• I-Phlebotomy : Ukususa igazi elincane ngezikhathi ezithile kususa insimbi eningi emzimbeni. Lokhu kungasiza uma insimbi eningi iphazamisa ukukhiqizwa kwe-heme.
• I-hydroxychloroquine enomthamo ophansi: Lo muthi usiza ukususa ama-porphyrins angaphezulu emzimbeni wakho. Akhishwa emchameni wakho.

Ukwelashwa kwe-CEP

Kubaluleke kakhulu ukuzivikela elangeni nasezibaneni ze-fluorescent ukuze uvimbele ukuqubuka kanye nezinkinga. Uma kuvela ukuqubuka, kungase kudingeke ama-antibiotic creams. Uma ukutheleleka kukubi kakhulu, kungase kudingeke ama-antibiotic omlomo noma nge-IV.

Udokotela wakho uzoqapha njalo amazinga akho e-hemoglobin ukuze anqume ukuthi kudingeka yini ukumpontshelwa igazi. Kulabo abanezimo ezimbi kakhulu, ukufakelwa umnkantsha kungadingeka. Lena ukuphela kwendlela yokwelapha lesi sifo.

Kufanele ngimbone nini udokotela?

Uma une-porphyria, ukuhlolwa njalo (''ukulandelela'') nodokotela wakho kuzoba yingxenye yempilo yakho. Udokotela wakho uzokutshela ukuthi udinga ukuza nini ukuze uthole ama-aphoyintimenti akho. La ma-aphoyintimenti abalulekile ukuze kuqashwe ukuthi lesi sifo sithinta kanjani umzimba wakho futhi kubonwe noma yiziphi izimpawu zezinkinga. Uzodinga ukuhlolwa kwegazi nomchamo njalo, kanye nokuhlolwa kokuhlola ukusebenza kwezinye izitho zomzimba.

Hlobo luni lwekusasa umuntu one-porphyria angalulindela?

Umbono wakho uncike kulezi zinto:

• Uhlobo lwe-porphyria onayo
• Yeka ukuthi kukuthinte kabi kangakanani
• Noma yiziphi izinkinga ezivelayo

Udokotela wakho angakunikeza umbono onembile kakhulu walokho ongakulindela esikhathini esizayo.

I-Porphyria ingaba nomthelela omkhulu empilweni yakho yansuku zonke. Izimpawu ezibucayi zingaphazamisa imisebenzi yakho evamile, zenze kube nzima ukusebenza, ukunakekela umndeni wakho, nokujabulela izinto ozithandayo. Ungase uzizwe ukhathele kakhulu, ngokomzimba nangokwengqondo.

Tshela udokotela wakho ukuthi uzizwa kanjani. Angakutshela ngezinsizakusebenza namaqembu okusekela angakusiza. Ukuxhumana nemiphakathi ye-porphyria kungakusiza ufunde kabanzi ngesimo sakho futhi uthole izindlela zokusiphatha.

Ukuphila nesifo esingavamile njenge-porphyria kungaba nesizungu, kukhungathekise, futhi kwesabise kakhulu. Ungase ufise sengathi umndeni wakho nabangani bakho bayaqonda ukuthi uzizwa kanjani. Kungenzeka ukuthi kwadingeka uchaze i-porphyria yakho kwabanye futhi ubabuze ukuthi kungani ungakwazi ukwenza izinto ezithile.

Noma ngabe ukuphi, yazi ukuthi awuwedwa.Nakuba i-porphyria ingavamile uma iqhathaniswa nezinye izifo eziningi, kunomphakathi omkhulu olindele ukukusiza. Joyina amaqembu okusekela i-porphyria aku-inthanethi, noma ucele udokotela wakho ukuthi akuthumele kwelinye. Ukuthola abantu abaqondayo ukuthi uzizwa kanjani kungenza kube lula kakhulu ukubhekana nobunzima nobunzima bempilo.

Into ebaluleke kakhulu okudingeka siyifunde kulokhu (Umyalezo Ohamba Nawo Ekhaya)

I-Porphyria yisifo esiyinkimbinkimbi nesingavamile. Kodwa-ke, uma ufundiswe ngaso, ulandela iseluleko sikadokotela wakho, futhi ugweme izinto ezenza izimpawu zakho zibe zimbi kakhulu, ungaphila ngempumelelo nalesi simo. Kubalulekile ukunaka umzimba wakho, izimpawu zakho, nokubona udokotela wakho ngesikhathi. Khumbula, awuwedwa, futhi ungalokothi unqikaze ukucela usizo.

I- Porphyria, i-heme, i-porphyrin, ama-enzyme, izifo zofuzo, izifo zesikhumba, ubuhlungu besisu