Ngaba wakha weva nge "Porphyria"? Makhe sithethe ngesi sifo singaqhelekanga!

Inkqubo enzima kakhulu nemangalisayo eyenzeka ngaphakathi emzimbeni wakho kukuveliswa kwento ebizwa ngokuba yi "Heme". Le Heme ibalulekile ekuvelisweni kweHemoglobin, enoxanduva lombala obomvu wegazi lethu kwaye ithwala ioksijini emzimbeni wonke. Ayipheleli apho, kodwa le Heme inceda kweminye imisebenzi emininzi ebalulekileyo ngaphakathi kweeseli zethu. Nangona kunjalo, ngamanye amaxesha inkqubo yokuvelisa le Heme inokungahambi kakuhle. Kulapho ke iimeko zeqela elingaqhelekanga lezifo ezibizwa ngokuba yi "Porphyria" zenzeka khona. Ungakhathazeki, masithethe ngale nto ngokulula.

Yintoni kanye kanye iPorphyria?

Ngamafutshane, i-porphyria ligama eliqhelekileyo leqela lezifo ezingaqhelekanga ezichaphazela inkqubo yokuvelisa i-heme emizimbeni yethu. Cinga ngale ndlela, ukwenza i-heme kufana nenkqubo enzima enamanyathelo asibhozo. Elinye la manyathelo lifuna ii-enzymes ezisibhozo ezithile ukuze zisebenze ngokufanelekileyo. Ii-enzyme ziiproteni ezikhawulezisa ukusabela kweekhemikhali emizimbeni yethu. Iikhemikhali ezibizwa ngokuba yi-"porphyrins" kunye ne-"porphyrin precursors" nazo ziyabandakanyeka kule nkqubo.

Khawucinge ngoku, kwenzeka ntoni ukuba i-enzyme kwenye yezi nyathelo zisibhozo ayisebenzi kakuhle? Kulapho ingxaki iqala khona. Njenge-chain reaction, xa loo enzyme ingasebenzi, ii-porphyrins kunye nee-porphyrin precursors ezafika ngaphambi kokuba ziqale ukuqokelelana ngaphakathi kweeseli zomzimba. Yile ngqokelela yeekhemikhali ebangela iimpawu ze-porphyria.

Usenokuba uzibuza, "Kutheni le enzyme ingasebenzi kakuhle?" Ngokuqhelekileyo, unobangela kukuguquka kwezakhi zofuzo. Oko kukuthi, kukho utshintsho kwi-gene ebhala i-enzyme ebandakanyekayo kwinkqubo yokwenza i-heme. Esi sifo, esibizwa ngokuba yi-porphyria, sidla ngokudluliselwa kwilifa. Oko kukuthi, olu tshintsho lwezakhi zofuzo lunokudluliselwa kwamanye amalungu osapho. Ukuba oko kuyenzeka, banokuba ne-porphyria okanye babe ngabathwali besifo.

Kodwa ungakhathazeki. Ukuba ufumanisa ukuba unale meko, oogqirha banokukunceda ulawule iimpawu zakho, mhlawumbi bade bazithintele. Oku kunokunceda ukunciphisa impembelelo ezi meko ebomini bakho.

Ngaba kukho iintlobo ze-porphyria?

Ewe, kukho malunga neentlobo ezisibhozo ze-porphyria. Oogqirha bazibiza zonke ngokuthi "zii-porphyria." Oogqirha baya kugqiba ukuba loluphi uhlobo lwe-porphyria onalo ngokusekwe kwiimpawu zakho kunye nokuba ziqokelelana phi emzimbeni wakho ezo khemikhali zongezelelweyo endizikhankanyileyo ngaphambili.

Ngokubanzi, ezi ntlobo ze-porphyria zinokwahlulwa zibe ngamaqela amabini aphambili ngokusekelwe kwiimpawu zazo:

• IiPorphyrias ezibukhali (ngamanye amaxesha zibizwa ngokuba yi-"Acute Hepatic Porphyrias")
• IiPorphyrias ezikhula ngesikhumba

IiPorphyrias ezibukhali

Olu luhlu lwezifo lunokubangela iintlungu eziqatha zesisu kunye nezinye iimpawu. Ezinye iintlobo ze-acute porphyrias zinokwenza ulusu lwakho lube buthathaka kwilanga kwaye lubangele amadyungudyungu esikhumba.

Nazi ezinye iintlobo ze-acute porphyrias:

• I-Acute Intermittent Porphyria (AIP): Olu lolona hlobo luqhelekileyo lwe-acute porphyria. Ingabangela iintlungu zesisu ezikhawulezileyo neziqatha, kodwa akukho mvakalelo yokukhanya kwelanga okanye amadyungudyungu eluswini.
• I-Hereditary Coproporphyria (HCP): Kunye nokuqaqamba kwesisu ngequbuliso, ulusu lwakho lunokuba buthathaka kwilanga kunye namaqhubu.
• I-Variegate Porphyria (VP): Kule meko, unokufumana iintlungu zesisu ezikhawulezileyo kunye/okanye amadyungudyungu esikhumba. Ezi zinokuba zimbi ngakumbi xa zibekwe elangeni.
• I-porphyria yokunqongophala kwe-ALAD: I-ALAD imele i-enzyme ethi "delta-aminolevulinic acid (ALA) dehydratase". Olu luhlobo olungaqhelekanga kakhulu lwe-porphyria, oluhlala lubonisa iimpawu ebuntwaneni.

IiPorphyrias ezikhula ngesikhumba

Olu luhlu lwezifo lubangela iimpawu zesikhumba xa zibekwe elangeni. Ezi zinokubandakanya iintlungu, ukutshintsha kombala wesikhumba, ukudumba, kunye/okanye ukudumba. Ngokuxhomekeke kwisizathu esiyintloko, abanye abantu banokuba nohlobo oludumbayo lwesikhumba olubizwa ngokuba yiCutaneous Porphyrias, ngelixa abanye besenokungabi nohlobo oludumbayo.

Iintlobo zePorphyrias eziqhekekayo:

• I-Porphyria Cutanea Tarda (PCT): Olu lolona hlobo luqhelekileyo lwe-porphyria.
• I-Congenital Erythropoietic Porphyria (CEP): "I-Erythropoietic" ibhekisa kumongo wakho wethambo. Le yindawo ephambili apho ii-porphyrins ezongezelelweyo ziqokelelana khona kwesi sifo. Olu luhlobo olungaqhelekanga kakhulu lwe-porphyria.

Iintlobo zePorphyrias ezingabonakaliyo:

• I-Erythropoietic Protoporphyria (EPP) kunye ne-X-linked Porphyria (XLP): Ezi zikwabizwa ngokuba "zii-protoporphyrias" kuba ikhemikhali eqokelelana kwezi zifo yi-"protoporphyrin." I-"X-linked" ithetha ukuba kukho utshintsho lwemfuza kwi-chromosome ye-X.
• I-Hepatoerythropoietic porphyria:Olu luhlobo olungaqhelekanga kakhulu lwe-porphyria.

Zithini iimpawu zePorphyria?

Iimpawu ozifumanayo kunye nokuba zihlala ixesha elingakanani ziya kuxhomekeka kuhlobo lwe-porphyria onayo. Iimpawu zinokuba buthathaka kakhulu okanye zibe nzima kakhulu. Abanye abantu abane-porphyria basenokungabi nazo kwaphela iimpawu. Nangona kunjalo, kwezinye iimeko, ezi mpawu zinokuba yingozi ebomini ukuba azinyangwa ngokufanelekileyo.

Iimpawu zeAcute Porphyria

Ii-porphyria ezibukhali zibangelwa kukwanda kwee-heme precursors i-aminolevulinic acid (ALA) kunye ne-porphobilinogen (PBG). Ezi zinto zichaphazela indlela esebenza ngayo inkqubo yakho yemithambo-luvo. Cinga ngayo, yonke into ukusuka ekushukumiseni izihlunu zakho ukuya ekugayeni ukutya ilawulwa yinkqubo yemithambo-luvo. I-Porphyria ibangela ukuba inkqubo yemithambo-luvo ingasebenzi kakuhle, ibangele iimpawu ngendlela "yokuhlaselwa."

I-porphyria ebukhali inokubangela iimpawu ezifana nezi:

• Intlungu yesisu esibuhlungu
• Isicaphucaphu nokuhlanza
• Ukuqhinwa
• Intlungu esifubeni, emqolo, ezingalweni, kunye/okanye emilenzeni
• Ixhala
• Ukungalali
• Utshintsho lwengqondo olufana nokudideka, ukuphazamiseka, kunye nokubona izinto ezingekhoyo
• Umsebenzi onzima
• Ukubetha kwentliziyo ngokukhawuleza (iTachycardia)
• Igazi elonyukayo
• Ukungabi nangqondo, imvakalelo yokurhawuzelela (iParesthesia)
• Ubuthathaka bemisipha okanye ukukhubazeka (oku kunokuchaphazela nezihlunu ezikunceda ukuphefumla)
• Ukuxhuzula
• Umchamo omnyama okanye obomvu (ii-porphyrins kunye nezinye iikhemikhali zinokutshintsha umbala womchamo)

Ukuba une-coproporphyria yelifa ``(HCP)`` okanye i-variegate porphyria ``(VP)``, ulusu lwakho lunokuba novakalelo elangeni. Ukuvezwa lilanga kunokubangela amadyungudyungu, ukutshintsha kombala wolusu, kunye/okanye amanxeba.

Inokuhlala ixesha elingakanani i-acute porphyria?

Uhlaselo olunje lunokuthatha iintsuku ezintathu ukuya kwezisixhenxe. Kodwa, ingakumbi ukuba alunyangwa, lunokuthatha ixesha elide kakhulu. Kungathatha iiveki ukuya kwiinyanga ukuba iimpawu ziphele ngokupheleleyo. Usenokuba nohlaselo olunye okanye ezimbalwa ebomini bakho. Nangona kunjalo, abanye abantu banokuba nohlaselo oluninzi ngonyaka.

I-acute porphyria inokubangela iingxaki ezihlala ixesha elide ezifana noxinzelelo lwegazi oluphezulu, ukungasebenzi kakuhle kwezintso, kunye nomhlaza wesibindi.

Iimpawu zePorphyrias ezingezizo eziqhumayo (EPP/XLP)

Iiporphyria zesikhumba zibangela iimpawu zesikhumba xa ubekwe elangeni. Oku kuquka ukukhanya kwelanga ngqo ngaphandle, kunye nokukhanya kwelanga okungenayo ngeefestile. Ezinye iintlobo zokukhanya okwenziweyo nazo zinokubangela iimpawu. Olu hlobo lweporphyria alubangeli iintlungu zesisu ezingxamisekileyo neziqatha okanye ezinye iimpawu eziqhelekileyo "kuhlaselo."

Xa uqala ukuba nempendulo elangeni, usenokuziva urhawuzelelwa ekuqaleni. Ukuba awuphumi ngokukhawuleza elangeni, usenokuba nento oogqirha abayibiza ngokuba yi-"phototoxic reaction". Usenokuba neempawu zesikhumba ezifana nezi, ingakumbi ebusweni bakho, ezandleni nasezinyaweni:

• Ukurhawuzelela
• Ukuba ndindisholo
• Ukudumba
• Intlungu ebuhlungu kwindawo echaphazelekayo
• Amabala amancinci amfusa, abomvu, okanye amdaka eluswini (`(Petechiae)`)

Ezi mpendulo zibuhlungu kakhulu kwaye zihlala iintsuku ezimbini ukuya kwezintlanu. Kufuneka uzame ukuhlala endlwini upholise iindawo ezichaphazelekileyo (umzekelo, ngomoya obandayo ovela kwi-air conditioner).

Iimpawu zeBlistering Cutaneous Porphyrias

I-Porphyria Cutanea Tarda (PCT)

Abantu abane-PCT banokufumana iimpawu ezifana nezi:

• Amadyungudyungu eluswini (ahlala ekwimiqolo yezandla)
• Amanxeba
• Ukutshintsha kombala wolusu
• Ukujiya kolusu
• Ulusu olubuthathaka olukrazuka lula nokuba yingozi okanye uxinzelelo oluncinci
• Ukukhula kweenwele ngokugqithisileyo (rhoqo ebusweni, emacaleni ebunzi, okanye kwiindawo ezifana nesilevu)

I-Congenital Erythropoietic Porphyria (CEP)

Olu hlobo lubi lwe-porphyria luqala ukubonisa iimpawu emva nje kokuzalwa okanye kwasekuqaleni kakhulu ebomini. Uphawu lokuqala ngumchamo obomvu. Ngenxa yokuba iinapile zomntwana zinombala obomvu, oogqirha badla ngokulingeka ukuba baqale bajonge ukuba kukho usulelo kwindlela yomchamo.

Ezinye iimpawu ze-CEP ziquka:

• Ulusu luvutha amadyungudyungu nangona luchatshazelwa nalilanga elincinci okanye ukukhanya okukhanyayo
• Iiblister ziyasuleleka, nto leyo ebangela usulelo lwamathambo kunye nomonakalo wamathambo
• Ukulahlekelwa zezinye iindawo zobuso (indlebe kunye ne-cartilage yempumlo)
• Amazinyo ajika abe ngwevu-mdaka
• I-anemia - Oku kuthetha ukungabikho kweeseli ezibomvu zegazi egazini. Ngamanye amaxesha kufuneka utofelo-gazi.
• Ukwandiswa kwepleen
• Inani eliphantsi leeplatelet (`(Inani eliphantsi leeplatelet)`)

Zithini izizathu ze-porphyria?

I-acute porphyria ibangelwa lutshintsho kwiijini ezithile. Nangona kunjalo, ukuba uzuze utshintsho kwijini akuthethi ukuba uza kuba neempawu ze-porphyria.Abantu abaninzi abanotshintsho lwemfuza oluhambelana ne-porphyria abanazo iimpawu. Oku kuthetha ukuba uvavanyo lwemfuza lodwa alunakuqinisekisa ukuxilongwa. Indlela ekuphela kwayo yokwazi ngokuqinisekileyo ukuba iimpawu zakho zibangelwa yi-acute porphyria kukuvavanya umchamo wakho ukuze ubone ukuba unamanqanaba e-ALA kunye ne-PBG.

Iingcali zikholelwa ukuba ezinye izinto, ezinje ngeehomoni, amayeza athile, kunye nokutya okutyayo, zinokudlala indima ekuqaleni kohlaselo olukhawulezileyo. Ukuba uzalwa unenguqu yemfuza enxulunyaniswa ne-acute porphyria, ezi zinto zinokwenza uhlaselo lube nokwenzeka ngakumbi.

Izinto ezinokubangela olu hlobo lohlaselo zezi:

• Amanqanaba aphezulu eehomoni zesini zabasetyhini (umzekelo, ngexesha lesigaba se-luteal somjikelo wakho wokuya exesheni wenyanga)
• Amanye amayeza (umzekelo, iipilisi zokulala, iipilisi zokulawula ukuzalwa)
• Ukusela utywala ngokugqithisileyo
• Ukutshaya
• Ukutya iicarbohydrate eziphantsi (umzekelo, xa uzila ukutya okanye ulandela ukutya okukhethekileyo)

Izizathu zePorphyria Cutanea Tarda (PCT)

I-PCT luhlobo lwe-porphyria oludla ngokuvela kubantu abadala, kwaye lwahlukile kancinci kwezinye iintlobo ze-porphyria. Oogqirha bayibiza ngokuba "zii-acquired causes." Oku kuthetha ukuba ungayifumana le meko nokuba awunayo i-genetic mutation.

Ngokwesiqhelo, izinto ezimbini okanye ngaphezulu ezinobungozi ziyadibana ukuze ziphazamise imveliso eqhelekileyo ye-heme. Ezi zinto ziquka:

• Ukusetyenziswa kwe-estrogen (umzekelo, iipilisi zokulawula ukuzalwa okanye unyango lokutshintshwa kweehomoni)
• Ukusela utywala ngokugqithisileyo
• Ukwanda kwamanqanaba esinyithi emzimbeni (`(Ukugqithisa kwesinyithi / i-hemochromatosis)`)
• Usulelo lweHepatitis C
• Usulelo lwe-HIV
• Ukutshaya

Oogqirha bayixilonga njani le sifo?

Oogqirha baxilonga i-porphyria ngokukuxilonga ngokwasemzimbeni nangokukwenza uvavanyo lwelabhoratri. Usenokuba novavanyo olunye okanye ngaphezulu kwezi:

• Uvavanyo lwegazi
• Uvavanyo lomchamo
• Uvavanyo lwesitulo

Ugqirha wakho uza kukuchazela ukuba zeziphi iimvavanyo ekufuneka uzenze kunye nokuba uvavanyo ngalunye lunokuzifumana phi. Ugqirha wakho unokucebisa uvavanyo lwezakhi zofuzo kuwe nakwabanye kusapho lwakho. Oku kunokuchonga utshintsho oluthile lwezakhi zofuzo olunokubangela i-porphyria.

Iphathwa njani i-porphyria?

Iindlela zonyango zixhomekeke kuhlobo lwe-porphyria onayo kunye nendlela ekuchaphazela ngayo. Ugqirha wakho uza kukuchazela ukuba yintoni efanelekileyo kwimeko yakho ethile. Nazi ezinye izinto eziqhelekileyo onokuzilindela.

Unyango lwe-Acute Porphyrias

Ukuba une-acute porphyria, unokufuna ukulaliswa esibhedlele ukuze ufumane unyango xa "uhlaselwa." Esibhedlele, oogqirha baya kwenza enye okanye ezingaphezulu kwezi zilandelayo:

• Ukunika amayeza okunciphisa amanqanaba e-ALA kunye ne-PBG (i-hemin infusion)
• Ukunika amayeza okulawula iintlungu, isicaphucaphu, kunye/okanye imeko yesifo sokuwa
• Ukunika ulwelo oluphuma kwimithambo yegazi (efakwa emthanjeni)
• Ukubeka iliso kumanqanaba akho e-electrolyte kunye nokuwazalisa kwakhona ukuba kuyimfuneko
• Ukunika ingqalelo kutshintsho olukwimeko yakho yengqondo

Ukunceda ukuthintela ukuhlaselwa kwixesha elizayo, ugqirha wakho unokukunika iyeza elibizwa ngokuba yi-givosiran. Le yinaliti yenyanga nganye ethintela ukuveliswa kakhulu kwe-ALA kunye ne-PBG.

Kuya kufuneka uphephe izinto ezinokubangela oku:

• Amanye amayeza
• Ukuzila ukutya kunye neendlela zokunciphisa iikhalori
• Ukusetyenziswa kotywala
• Ukusetyenziswa kwecuba
• Ukuchama elangeni (ukuba une-VP okanye i-HCP)

Unyango lwe-Cutaneous Porphyrias

Nokuba loluphi uhlobo lweCutaneous Porphyria onalo, kubalulekile ukukhusela ulusu lwakho ukuze uthintele iimpawu. I-sunscreen yodwa ayidli ngokwanelisa. Eyona nto ilungileyo onokuyenza kukuphepha ukuba selangeni kangangoko unako. Ukuba kufuneka ube selangeni, nxiba impahla yokukhusela ilanga. Ugqirha wakho uya kukucebisa ngento ekulungeleyo. Kusenokufuneka uziphephe ezinye iintlobo zokukhanya okwenziweyo.

Unyango lwe-EPP/XLP

Ugqirha wakho angakunika iyeza elibizwa ngokuba yi-afamelanotide. Eli li-implant elincinci kakhulu. Ugqirha wakho uza kulibeka phantsi kwesikhumba esiswini sakho. Iyeza elikhutshwa kwi-implant liya kunceda ukunciphisa iimpawu ezibuhlungu ezibangelwa kukukhanya kwelanga. Ugqirha wakho uza kujonga ukusebenza kwesibindi sakho rhoqo aze aqinisekise ukuba amanqanaba akho e-vitamin D aphantsi.

Abantu abane-EPP/XLP banamathuba amaninzi okuba ne-gallstones. Abanye abaguli be-EPP/XLP banokuba neengxaki zesibindi. Kwiimeko ezinzima, ukungasebenzi kakuhle kwesibindi kunokwenzeka. Oku kungadinga ukufakelwa kwesibindi, ngamanye amaxesha kulandelwe kukufakelwa umongo wethambo.

Unyango lwe-PCT

Ugqirha angakunika izinto ezifana nezi:

• I-Phlebotomy : Ukususa igazi elincinci rhoqo kususa i-iron engaphezulu emzimbeni. Oku kunokunceda ukuba i-iron eninzi iphazamisana nokuveliswa kwe-heme.
• I-hydroxychloroquine enedosi ephantsi: Eli yeza linceda ukususa ii-porphyrins ezigqithisileyo emzimbeni wakho. Ziphuma kumchamo wakho.

Unyango lwe-CEP

Kubaluleke kakhulu ukuzikhusela elangeni nakwizibane ezikhanyayo ukuze uthintele ukudumba kunye neengxaki. Ukuba kuvela ukudumba, iikhrimu zokubulala iintsholongwane zinokufuneka. Ukuba usulelo lunzima, ii-antibiotic zomlomo okanye ezine-IV zinokufuneka.

Ugqirha wakho uza kujonga rhoqo amanqanaba akho e-hemoglobin ukuze abone ukuba kufuneka utofelwe igazi na. Kwabo baneengxaki ezinzima kakhulu, ukufakelwa umongo wethambo kunokufuneka. Le yindlela ekuphela kwayo yokunyanga esi sifo.

Ndifanele ndimbone nini ugqirha?

Xa une-porphyria, ukuvavanywa rhoqo (''ukulandelela'') nogqirha wakho kuya kuba yinxalenye yobomi bakho. Ugqirha wakho uya kukuxelela xa kufuneka uze kwi-aphoyintimenti yakho. Ezi ndibano zibalulekile ukujonga indlela esi sifo esichaphazela ngayo umzimba wakho kunye nokubona naziphi na iimpawu zeengxaki. Uya kufuna uvavanyo lwegazi nomchamo rhoqo, kunye novavanyo lokujonga ukusebenza kwamanye amalungu omzimba.

Luhlobo luni lwekamva umntu one-porphyria anokulilindela?

Umbono wakho uxhomekeke kwezi zinto zilandelayo:

• Uhlobo lwe-porphyria onayo
• Indlela ekuchaphazele kakubi ngayo oku
• Naziphi na iingxaki ezivelayo

Ugqirha wakho angakunika umbono ochanekileyo wento omawuyilindele kwixesha elizayo.

I-Porphyria inokuba nefuthe elikhulu kubomi bakho bemihla ngemihla. Iimpawu eziqatha zinokuphazamisana nemisebenzi yakho yesiqhelo, zenze kube nzima ukusebenza, ukunyamekela usapho lwakho, kwaye ukonwabele izinto ozithandayo. Usenokuziva udiniwe kakhulu, emzimbeni nasengqondweni.

Xelela ugqirha wakho ukuba uziva njani. Angakuxelela ngezixhobo kunye namaqela enkxaso anokukunceda. Ukunxibelelana noluntu lwe-porphyria kunokukunceda ufunde ngakumbi ngemeko yakho kwaye ufumane iindlela zokuyilawula.

Ukuphila nesifo esingaqhelekanga njenge-porphyria kunokuba yinto yodwa, ecaphukisayo, kwaye eyoyikisayo. Usenokunqwenela ukuba usapho lwakho nabahlobo bakho baqonde indlela oziva ngayo. Kusenokwenzeka ukuba bekufuneka uchaze i-porphyria yakho kwabanye uze ubabuze ukuba kutheni ungenakukwazi ukwenza izinto ezithile.

Naphi na apho ukhoyo, yazi ukuba awuwedwa.Nangona i-porphyria inqabile xa ithelekiswa nezinye izifo ezininzi, kukho uluntu olukhulu olulindele ukukunceda. Joyina amaqela enkxaso ye-porphyria kwi-intanethi, okanye ucele ugqirha wakho ukuba akuthumele kwelinye. Ukufumana abantu abayiqondayo indlela ovakalelwa ngayo kunokwenza kube lula kakhulu ukujongana nobunzima nobunzima bobomi.

Eyona nto ibalulekileyo ekufuneka siyifunde koku (Umyalezo Wokuya Ekhaya)

I-Porphyria sisifo esintsonkothileyo nesingaqhelekanga. Nangona kunjalo, ukuba ufundisiwe ngaso, landela icebiso likagqirha wakho, kwaye uphephe izinto ezenza iimpawu zakho zibe zimbi kakhulu, ungaphila ngempumelelo nale meko. Kubalulekile ukunikel’ ingqalelo emzimbeni wakho, kwiimpawu zakho, kwaye ubone ugqirha wakho ngexesha. Khumbula, awuwedwa, kwaye ungaze unqikaze ukucela uncedo.

I- Porphyria, i-heme, i-porphyrin, ii-enzymes, izifo zemfuza, izifo zolusu, iintlungu zesisu