Ngaba wakha ngequbuliso wahlaselwa yintlungu yesisu enzima ongenakuyicinga? Okanye ngaba ufumana iintlungu ezinganyamezelekiyo ezifana namadyungudyungu nokutsha xa uphuma elangeni? Emva kwezi zinto, kusenokuba sisifo esingaqhelekanga esibizwa ngokuba yi-'Porphyria', abantu abaninzi kwilizwe lethu abangazange basive nokusiva. Eli gama lisenokuvakala lingaqhelekanga, kodwa le yimeko ebangelwa yinkqubo yeekhemikhali emzimbeni wethu ehamba gwenxa. Ngoko masithethe ngale nto ngokulula, ngokungathi sixelela umhlobo.
Ngamafutshane, yintoni iPorphyria?
Ukuze siqonde oku, masiqale sijonge igazi lethu. Igazi lethu libomvu ngombala kwaye lithwala ioksijini emzimbeni wonke kuba liqulethe into ekhethekileyo ebizwa ngokuba yi -'heme' . Ukuveliswa kwale 'heme' emizimbeni yethu kufana nomsebenzi wefektri enkulu. Yinkqubo enzima eyenzeka ngamanyathelo asibhozo (8).
Khawuthelekelele upheka ukutya. Kufuneka wongeze izinto ezahlukeneyo kumanqanaba ahlukeneyo, inyathelo ngenyathelo. Ngokufanayo, kukho iiproteni ezikhethekileyo ezibizwa ngokuba zii-enzymes ukunceda kwinqanaba ngalinye lokwenza le 'heme'. Kukho i-enzyme eyahlukileyo kwinqanaba ngalinye.
I-Porphyria yenzeka xa elinye lala manyathelo asibhozo liphazamisekile, kwaye i-enzyme ebangela oko ingasebenzi kakuhle. Oku kuthetha ukuba iikhemikhali ezibizwa ngokuba zii-porphyrins kunye nee-porphyrin precursors, eziveliswa ngexesha lenkqubo yokwenza i-heme, azisuswa emzimbeni kwaye endaweni yoko ziqala ukuqokelelana ngaphakathi kweeseli. Kufana naxa umatshini uqhekeka kumgca wemveliso yefektri, iimpahla ziyaqokelelana. Ukuqokelelana kwezi khemikhali emzimbeni yimbangela yeempawu ezahlukeneyo.
Kwiimeko ezininzi, unobangela wezi ngxaki zee-enzyme kukuguquka kwezakhi zofuzo okwenzeka kwiintsapho. Oku kuthetha ukuba kukho ithuba lokuba le meko iqhubeke kwiintsapho. Kodwa ungakhathazeki, oogqirha abanobuchule banokukunceda ukufumanisa le meko, ukulawula iimpawu, kunye nokunciphisa impembelelo enayo ebomini bakho.
Ziziphi iintlobo eziphambili ze-porphyria?
Kukho malunga neentlobo ezisi-8 eziphambili ze-porphyria. Kodwa zonke zingahlulwa zibe ngamaqela amabini aphambili ngokusekelwe kwiimpawu zazo. Kulula kakhulu ukukhumbula oku.
| Iqela eliPhambili | Ingcaciso elula |
|---|---|
| IiPorphyrias ezibukhali | Kolu hlobo, kukho ukuhlaselwa ngequbuliso okukhulu kweempawu. Uphawu oluphambili ziintlungu zesisu eziqatha. Zinokubangela iingxaki kwinkqubo yemithambo-luvo. |
| IiPorphyrias ezikhula ngesikhumba | Njengoko igama lisitsho, ichaphazela kakhulu ulusu. Xa ibekwe elangeni, ulusu luyacaphuka, lube buhlungu, kwaye ludumbe. |
Ngoku makhe sijonge iintlobo ezahlukeneyo zezi ndidi zimbini.
Iintlobo zeAcute Porphyrias
Ezi zezona ntlobo zibangela "uhlaselo" ngequbuliso.
- I-Acute Intermittent Porphyria (AIP): Le yeyona ixhaphakileyo kwiintlobo ze-acute. Ibangela iintlungu eziqatha zesisu, kodwa ayinazo iingxaki zesikhumba.
- I-Hereditary Coproporphyria (HCP): Oku kunokubangela iintlungu zesisu kunye namadyungudyungu eluswini xa ubekwe elangeni.
- I-Variegate Porphyria (VP): Oku kunokubangela iintlungu zesisu kunye namadyungudyungu esikhumba.
- I-ALAD-Deficiency Porphyria: Oku kunqabile kakhulu. Iimpawu zihlala zibonakala ebuntwaneni.
Iintlobo zeCutaneous Porphyrias
Ezi zezona ntlobo zichaphazela ulusu. Ezi zahlulwe zibe ngamacandelo amabini: ezo zibangela amadyungudyungu kunye nezo zibangela iintlungu ezingenamadyungudyungu.
I-porphyria yesikhumba eqhumayo:
- I-Porphyria Cutanea Tarda (PCT): Olu lolona hlobo luqhelekileyo lwe-porphyria, kwaye ludla ngokuvela xa umntu emdala.
- I-Congenital Erythropoietic Porphyria (CEP): Le yimeko engaqhelekanga kakhulu, enzima. Iimpawu zibonakala xa umntwana ezalwa.
I-porphyria yesikhumba engeyiyo i-vesicular:
- I-Erythropoietic Protoporphyria (EPP) kunye ne-X-linked Porphyria (XLP): Kwezi ntlobo zimbini, endaweni yokuba zibe namaqhubu, ulusu luba buhlungu kakhulu, luvuvuke, ludumbe, kwaye lube bomvu xa lubekwe elangeni.
Zithini iimpawu zesi sifo?
Iimpawu zahluka kakhulu kuxhomekeke kuhlobo lwe-porphyria onayo. Abanye abantu baneempawu ezincinci kakhulu, ngelixa abanye banokuba neempawu ezinzima ezinokuba yingozi ebomini. Abanye abantu banokuba ne-gene kodwa abakaze babe nazo naziphi na iimpawu kwaphela.
Masizihlele ezi mpawu ukuze kube lula ukuziqonda.
| Udidi lweempawu | Iimpawu ezibonakalayo |
|---|---|
| Ngexesha lokuhlaselwa yi-acute porphyria | |
| Inkqubo yokugaya ukutya | Intlungu yesisu enganyamezelekiyo, ekhawulezileyo, eqatha , isicaphucaphu nokuhlanza, ukuqhina kwesisu. |
| Inkqubo yeemvakalelo kunye nengqondo | Iintlungu ezingalweni, emilenzeni, esifubeni, emqolo, ixhala, ukungalali, ukudideka kwengqondo, ukubona izinto ezingekhoyo, ukungaziva kakuhle kwamalungu omzimba (i-paresthesia) , ubuthathaka bemisipha okanye ukukhubazeka (okunokuchaphazela nezihlunu zokuphefumla), kunye nokuxhuzula. |
| Intliziyo kunye noxinzelelo lwegazi | Ukunyuka kwesantya sentliziyo (i-tachycardia) , uxinzelelo lwegazi oluphezulu. |
| Ezinye iimpawu | Umchamo uba mnyama (ubomvu okanye umdaka). |
| Kwi-Cutaneous Porphyrias | |
| Iintlobo ezingadubuliyo (EPP/XLP) | Xa ulusu lubekwe elangeni (nokuba luvela efestileni), luyaba ndindisholo, lurhawuzelele, ludumbe, kwaye lube buhlungu . Le ntlungu ihlala iintsuku ezimbini ukuya kwezintathu. |
| Iintlobo zeeblister (PCT/CEP) | Amaqhuqhuva kwiindawo ezivezwe lilanga (ingakumbi ngasemva kwezandla)Ukuvela kwamanxeba, ukuqhekeka kwawo kunye nokuqhekeka kwawo, utshintsho kumbala wolusu, ukuqina kolusu, ulusu olukrazula nantoni na , kunye nokukhula kakhulu kweenwele zobuso. |
"Uhlaselo" lwe-acute porphyria lunokuhlala phakathi kweentsuku ezi-3-7, kwaye ukuba alunyangwa, lunokuhlala iiveki okanye iinyanga.
Zithini izizathu kunye nezinto ezibangela i-porphyria?
Njengoko besitshilo ngaphambili, esona sizathu soku kukuguquka kwezakhi zofuzo. Kodwa into ebalulekileyo apha kukuba ayinguye wonke umntu onezakhi zofuzo oza kuba neempawu. Abantu abaninzi baphila njengabathwali bale zakhi zofuzo ngaphandle kweengxaki.
Ukuze kubekho "uhlaselo" oluneempawu ze-acute porphyria, kufuneka "i-trigger" ethile. Ezi zinto zibangela ukuba umzimba ufune "i-heme" engaphezulu, nto leyo ebangela ukuba ubuthathaka kuloo nkqubo bubonakale, kunye neekhemikhali eziyingozi eziqokelelana emzimbeni.
Nazi ezinye zezinto eziphambili ezibangela oku:
- Ukwanda kwamanqanaba eehomoni zabasetyhini: Ingakumbi ngamaxesha athile omjikelo wenyanga webhinqa wokuya exesheni.
- Amayeza athile: Umzekelo, ezinye iipilisi zokuthomalalisa iintlungu, ii-anesthetics, kunye neepilisi zokulawula ukuzalwa.
- Ukusela utywala ngokugqithisileyo.
- Ukutshaya.
- Ukunciphisa ukutya: Ukuzila ukutya okanye ukutya ukutya okune-carbohydrate encinci kakhulu.
I-Porphyria Cutanea Tarda (PCT) luhlobo olwahlukileyo kancinci. Inokubangelwa zizinto zangaphandle ngaphandle kwemfuza. Umzekelo, le meko inokubangelwa zizinto ezifana ne-iron engaphezulu emzimbeni (hemochromatosis), i-Hepatitis C okanye usulelo lwe-HIV, kunye nokusela utywala ngokugqithisileyo.
Ugqirha uyifumana njani le nto?
Xa uxelela ugqirha wakho ngeempawu zakho, uza kukuxilonga aze akubuze ukuba kukho nabani na kusapho lwakho oye waba neempawu ezifanayo. Ngenxa yokuba i-porphyria sisifo esingaqhelekanga, ngamanye amaxesha kungathatha ixesha ukuyixilonga ngokuchanekileyo.
Uvavanyo lwelabhoratri lwenziwa ikakhulu ukuqinisekisa ukuxilongwa.
- Uvavanyo lomchamo: Ngexesha lokuhlaselwa yi-acute porphyria, amanqanaba eekhemikhali ezibizwa ngokuba yi-ALA kunye ne-PBG kumchamo aphezulu kakhulu. Olu lolona vavanyo luphambili lokufumanisa isifo.
- Uvavanyo lwegazi
- Uvavanyo lwesitulo
Olu vavanyo lunokunceda ekuqinisekiseni ukuba loluphi uhlobo lwe-porphyria onalo. Emva koko, ukuba kuyimfuneko, uvavanyo lwemfuza lunokwenziwa.Ngokwenza njalo, singaqinisekisa ukuba loluphi utshintsho lwemfuza olubangele oku.
Iphathwa njani?
Iindlela zonyango ziyahluka ngokuxhomekeke kuhlobo lwe-porphyria onayo kunye nobunzima beempawu zakho. Ugqirha wakho uza kwenza isicwangciso sonyango esifanelekileyo kuwe.
Unyango lwe-Acute Porphyrias
Ukuba "uhlaselwe", ngokuqhelekileyo kufuneka ulaliswe esibhedlele kwaye unyangwe .
- Iyeza elibizwa ngokuba yi -'Hemin' lifakwa ngemithambo ukuze kuncitshiswe amanqanaba eekhemikhali eziyingozi (i-ALA kunye ne-PBG) eziqokelelene emzimbeni.
- Amanye amayeza anikwa ukulawula iimpawu ezifana neentlungu eziqatha, isicaphucaphu, kunye nokuxhuzula.
- Ityuwa (ii-IV fluids) zinikwa ukulungisa ukuphelelwa ngamanzi emzimbeni kunye namanqanaba etyuwa emzimbeni.
- Ukuthintela ukuphinda "kohlaselo", inaliti yegonyo yeGivosiran rhoqo ngenyanga ingacetyiswa.
- Eyona nto ibalulekileyo kukuphepha izinto ezisibangela ukuba sicinge ngaphambilana.
Unyango lweCutaneous Porphyrias
Kwezi ntlobo, unyango olubaluleke kakhulu noluphambili kukukhusela ulusu.
Ukuzikhusela elangeni kubalulekile. I-sunscreen elula isenokunganeli. Eyona nto ingcono onokuyenza kukuphepha ilanga kangangoko unako. Ukuba uyaphuma, kufuneka uzigqume kakuhle ngeempahla ezinde kunye neminqwazi.
Ukongeza, kukho ezinye iindlela zonyango ezixhomekeke kuhlobo:
- Kwi-EPP/XLP: Kukho i-implant encinci ebizwa ngokuba yi -'Afamelanotide' efakwa phantsi kolusu. Iyeza elikhutshwa koku linceda ekunciphiseni iintlungu ezibangelwa kukukhanya kwelanga.
- Kwi-PCT:
- I-Phlebotomy: Ukususa i-iron egqithisileyo emzimbeni, kuthathwa igazi elincinci ngamaxesha athile .
- I-Hydroxychloroquine: Eli yeza, lisetyenziswa ngeedosi eziphantsi, linceda umzimba ukuphelisa ii-porphyrins eziqokelelene emzimbeni ngomchamo.
- Kwi-CEP: Ukukhuselwa elangeni okungqongqo kubalulekile. Ukuba i-anemia inzima, utofelo-gazi lunokufuneka. Indlela ekuphela kwayo yokunyanga esi sifo ngokupheleleyo kukufakelwa umongo wethambo .
Ndingaphila njani nale meko?
Wakuba ufunyenwe une-porphyria, ubomi bakho buza kutshintsha kancinci. Ukuhlolwa rhoqo ngugqirha wakho kuya kuba yinxalenye yobomi bakho. Oku kubalulekile ukuze kujongwe imeko kwaye kubonwe ukuba ingaba kukho iingxaki ezinokwenzeka na.
Ukuphila nesifo esingaqhelekanga esifana nesi kunokuba nzima ngokweemvakalelo. Ngamanye amaxesha unokuzibuza ukuba kutheni oku kwenzeka kuwe wedwa. Thetha nogqirha wakho, usapho lwakho, okanye umhlobo othembekileyo malunga neemvakalelo zakho. Ukujoyina iqela lenkxaso labantu abanale meko nako kunokuba luncedo olukhulu. Khumbula ukuba awuwedwa.
Umyalezo Wokuya Ekhaya
- I-Porphyria sisifo esingaqhelekanga, esidla ngokuzuzwa njengelifa esichaphazela ukuveliswa kwe-heme emzimbeni.
- Kukho iintlobo ezimbini eziphambili: ezibukhali, ezibangela iintlungu zesisu eziqatha ngequbuliso, kunye nezihlunu zesikhumba, ezibangela ukuba ulusu lube buthathaka kwilanga.
- Uvavanyo lomchamo, igazi, kunye nendle zibalulekile ekuxilongweni.
- Iindlela zonyango ziyahluka ngokuxhomekeke kuhlobo lwesifo. Kwiimeko ezibukhali, ukuphepha 'izinto ezibangela' kubaluleke kakhulu, kwaye kwiimeko zesikhumba, ukuzikhusela elangeni kubaluleke kakhulu.
- Ukuba wena okanye umntu omaziyo uhlangabezana nezi mpawu (ingakumbi iintlungu zesisu eziqatha okanye iingxaki zolusu ezingachazwanga xa etshiswa lilanga), nceda ubone ugqirha ngokukhawuleza ukuze akunike ingcebiso.
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