Porphyria imaphatikizapo matenda a Gunther ndi zosachepera zina zisanu ndi ziwiri
Porphyria imatchula zinthu zisanu ndi zitatu zosiyana zomwe zimayambitsidwa ndi mankhwala a porphyrin. Anthu omwe ali ndi porphyria alibe mavitamini omwe amachititsa kutentha, chinthu chomwe chimapezeka m'mafupa, maselo ofiira , ndi chiwindi. Kulephera kwa enzyme imeneyi kumapangitsa kuti tizilombo toyambitsa matenda, omwe nthawi zambiri timapangidwira thupi lonse, kuti tipezepo poizoni.
Porphyrias nthawi zambiri amagawidwa m'magulu awiri - ovuta komanso osagwira ntchito. Zinthuzi zimakhudza dongosolo la mitsempha kapena khungu. Chilichonse chimakhala ndi zizindikiro zake komanso mankhwala. Zovuta porphyrias zimabweretsa zowawa zopweteka komanso matenda a ubongo zomwe zimakhala zovuta komanso zimawoneka mofulumira. Mitundu yabwino imakhala ndi porphyria yovuta kwambiri, ALAD-deficiency porphyria, variegate porphyria, komanso coproporphyria. Mitundu yosagwira ntchito ndi porphyria cutanea tarda, hepatoerythopoietic, ndi congenital erythropoietic porphyrias.
Porphyrias ndi matenda osowa. Pamodzi, amakhudza anthu osachepera 200,000 ku United States.
Zovuta Zophatikizapo Porphyria
Pakati penicria porphyria (AIP) ndi mtundu woopsa kwambiri wa porphyria, ndi ziwonongeko zopitirira maola ochuluka kapena masiku angapo. Anthu ambiri omwe adzalandira jini la AIP sakhala ndi zizindikiro. Mankhwala ena amadziwika kuti amachititsa kuti awonongeke, komanso amamwa mowa, kudya zakudya, ndi kusintha kwa mahomoni.
Nthendayi imaphatikizapo ululu wamimba ndi kudzimbidwa ndipo zingakhale kuphweteka, kusanza, kupweteka kumbuyo, mikono, miyendo, kufooka kwa minofu, komanso kupsinjika kwa mtima, chisokonezo, ndi kugwidwa.
Nthawi zambiri chiopsezo choyamba cha AIP chingasokonezedwe bwino, ndipo mankhwala omwe amapereka angapangitse odwala kukhala ovuta kwambiri.
Chithandizochi chiyenera kukhala ndi zakudya zamakono, ngakhale kuti izi zimathandiza kuthetsa asayansi osamva. Mankhwala a Heme angaperekedwe moyenera. Zizindikiro zimathetsa vutoli, koma odwala ena amayamba kuwonongeka.
Ena a porphyrias ali ndi zizindikiro zofanana ndi AIP. KUDZIWA kosavuta porphyria sikusowa kwambiri. Mu coproporphyria, chovala cha khungu chikhoza kuchitika.
Porphyria Cutanea Tarda (PCT)
Porphyria cutanea tarda (PCT) ndi yofala kwambiri pa porphyrias. PCT imapezeka, kutanthauza kuti imakula mwa munthu chifukwa cha zinthu zakunja. Zinthu izi zingaphatikizepo chitsulo, mowa, matenda a hepatitis C, estrogens (monga mapiritsi oletsa kubereka), ndi kusuta - zonse zomwe zingayambitse chiberekero cha chiwindi m'chiwindi, zomwe zimatsogolera ku PCT.
Pambuyo pa dzuwa, khungu limatuluka ndipo khungu limatha kubisala. PCT imaonedwa kuti ndi yotsika kwambiri pophyria. Pamene zizindikiro zimayamba kusonyeza, kuchotsa magazi amodzi kuchokera kwa wodwala aliyense mpaka masabata awiri (mpaka 5 kapena 6 pintsitsi ya magazi) amachotsa chitsulo ku chiwindi ndikupereka mpumulo. PCT kawirikawiri siibwereranso mankhwala.
Matenda a Gunther
Congenital erythropoietic porphyria (CEP), yomwe imatchedwanso Gunther's disease, ndi yovuta kwambiri.
Zizindikiro za khungu za matenda a Gunther zingakhale zovuta. Kutentha kwa dzuwa kungayambitse kupweteka, kupweteka, ndi kukula kwa tsitsi. Khungu lokhudzidwa lingakhale ndi mabakiteriya, ndipo nkhope ndi zala zimatha kutayika chifukwa cha kuwonongeka kwa dzuwa ndi matenda. Hepatoerythropoietic porphyria ndi yosawerengeka ndipo imayambitsa khungu lofanana ndi la Gunther.
Erythropoietic Protoporphyria
Matenda okhudzana ndi porphyrias ndi erythropoietic protoporphyria (EPP). Mu EPP, protoporphyrin imasonkhanitsa m'mafupa, maselo ofiira a magazi, ndi chiwindi. Zisonyezero zimasonyeza phungu pakapita kuwala kwa dzuwa. Izi zikuphatikizapo kutupa, kuyaka, kuyabwa, ndi kufiira.
Kuphulika ndi zofiira sizodziwika kwambiri kusiyana ndi zomwe zili ndi porphyrias ina.
Matenda a Porphyria Amadziwika
Mapu a chromosome amadziwika kuti majini onse omwe amapezeka m'mapuloteni osalimba mu porphyrias. Kuyezetsa DNA kumatha kuzindikira anthu omwe ali ndi vutoli. Komabe, ma laboratories ochepa amapereka mayesero awa. Kuyezetsa mwana kwa congenital erythropoietic porphyria kwachitidwa, komanso kupambana kwa jeni kwa CEP ndi EPP.
Zotsatira:
The American Porphyria Foundation (2015)
Keung, YK, Chuahirun, T., & Cobos, E. (2000). Pakati penicria ndi phokoso ndi kulumala mu puerperium. J Am Board Fam Pract, vol. 13, ayi. 1, 76-79.
Lim, HW, & Cohen, JL (1999). Chipatala chophwanya. Semin Cutan Med Surg, vol. 18, ayi. 4, 285-292.