Kodi mudamvapo za "Porphyria"? Tiyeni tikambirane za matenda osowa awa!

Njira yovuta komanso yodabwitsa yomwe imachitika m'thupi lanu ndi kupanga chinthu chotchedwa "Heme". Heme iyi ndi yofunika kwambiri popanga Hemoglobin, yomwe imayang'anira mtundu wofiira wa magazi athu ndipo imanyamula mpweya m'thupi lonse. Sikuti izi zokha, komanso Heme iyi imathandiza pa ntchito zina zambiri zofunika mkati mwa maselo athu. Komabe, nthawi zina njira yopangira Heme iyi imatha kulakwika. Pamenepo ndi pamene matenda omwe amapezeka m'gulu la matenda osowa otchedwa "Porphyria" amachitika. Musadandaule, tiyeni tikambirane za izi mosavuta.

Kodi Porphyria ndi chiyani kwenikweni?

Mwachidule, porphyria ndi dzina lofala la gulu la matenda osowa omwe amakhudza njira yopangira heme m'thupi lathu. Taganizirani izi motere, kupanga heme kuli ngati njira yovuta yokhala ndi magawo asanu ndi atatu. Gawo lililonse mwa magawo awa limafuna ma enzyme asanu ndi atatu kuti agwire ntchito bwino. Ma enzyme ndi mapuloteni omwe amafulumizitsa zochita za mankhwala m'thupi lathu. Mankhwala otchedwa "porphyrins" ndi "porphyrin precursors" nawonso amakhudzidwa ndi njirayi.

Tsopano ganizirani izi, chimachitika ndi chiyani ngati enzyme mu imodzi mwa magawo asanu ndi atatu awa sigwira ntchito bwino? Pamenepo ndi pomwe vuto limayambira. Monga momwe zimachitikira nthawi ya chain, pamene enzyme imeneyo sigwira ntchito, ma porphyrins ndi ma porphyrin precursors omwe adabwera asanayambe amayamba kusonkhana mkati mwa maselo a thupi. Ndi kusonkhanitsa kwa mankhwala kumeneku komwe kumayambitsa zizindikiro za porphyria.

Mwina mukudzifunsa kuti, "N'chifukwa chiyani enzyme iyi sikugwira ntchito bwino?" Nthawi zambiri, chifukwa chake ndi kusintha kwa majini. Izi zikutanthauza kuti, pamakhala kusintha kwa majini komwe kumapanga enzyme yomwe imagwira ntchito popanga heme. Matendawa, otchedwa porphyria, nthawi zambiri amakhala obadwa nawo. Izi zikutanthauza kuti, kusintha kwa majini kumeneku kumatha kuperekedwa kwa ena m'banjamo. Ngati zimenezo zitachitika, akhoza kukhala ndi porphyria kapena kukhala onyamula matendawa.

Koma musadandaule. Ngati mutapeza kuti muli ndi vutoli, madokotala angakuthandizeni kuthana ndi zizindikiro zanu, komanso mwina kuzipewa. Izi zingathandize kuchepetsa mavuto omwe matendawa ali nawo pa moyo wanu.

Kodi pali mitundu ya porphyria?

Inde, pali mitundu pafupifupi isanu ndi itatu ya porphyria. Madokotala onse pamodzi amatcha "porphyrias." Madokotala adzasankha mtundu wa porphyria womwe muli nawo kutengera zizindikiro zanu ndi komwe mankhwala owonjezera omwe ndatchula kale amasonkhana m'thupi lanu.

Kawirikawiri, mitundu iyi ya porphyria ingagawidwe m'magulu awiri akuluakulu kutengera zizindikiro zawo:

• Matenda a Acute Porphyrias (nthawi zina amatchedwa "Acute Hepatic Porphyrias")
• Ma Porphyria a Cutaneous

Matenda a Porphyria Oopsa

Gulu la matenda amenewa lingayambitse kupweteka kwambiri m'mimba ndi zizindikiro zina. Mitundu ina ya matenda a acute porphyrias ingapangitse khungu lanu kukhala losakhudzidwa ndi dzuwa ndikuyambitsa matuza pakhungu.

Nazi mitundu ina ya porphyrias yoopsa:

• Acute Intermittent Porphyria (AIP): Iyi ndi mtundu wofala kwambiri wa acute porphyria. Ingayambitse kupweteka kwadzidzidzi komanso kwakukulu m'mimba, koma palibe kukhudzidwa ndi kuwala kwa dzuwa kapena matuza pakhungu.
• Hereditary Coproporphyria (HCP): Pamodzi ndi kupweteka m'mimba mwadzidzidzi, khungu lanu likhoza kukhala losamva kuwala kwa dzuwa ndi matuza.
• Variegate Porphyria (VP): Mu vutoli, mungamve kupweteka m'mimba mwadzidzidzi ndi/kapena matuza a pakhungu. Izi zitha kukhala zoipitsitsa mukakumana ndi dzuwa.
• Porphyria yosowa mu ALAD: ALAD imayimira enzyme "delta-aminolevulinic acid (ALA) dehydratase". Iyi ndi mtundu wosowa kwambiri wa porphyria, womwe nthawi zambiri umasonyeza zizindikiro ali mwana.

Ma Porphyria a Cutaneous

Gulu la matenda amenewa limayambitsa zizindikiro za pakhungu likamawotchedwa ndi dzuwa. Izi zingaphatikizepo kupweteka, kusintha mtundu wa khungu, kutupa, ndi/kapena kutupa. Kutengera ndi chomwe chimayambitsa, anthu ena amatha kukhala ndi kutupa kwa khungu kotchedwa Cutaneous Porphyrias, pomwe ena sangatuluke kutupa.

Mitundu ya Porphyrias ya Cutaneous Blistering:

• Porphyria Cutanea Tarda (PCT): Uwu ndi mtundu wofala kwambiri wa porphyria.
• Congenital Erythropoietic Porphyria (CEP): "Erythropoietic" imatanthauza mafupa anu. Apa ndiye malo akuluakulu omwe ma porphyrins owonjezera amasonkhana mu matendawa. Uwu ndi mtundu wosowa kwambiri wa porphyria.

Mitundu ya Porphyrias Yosatupa ya Cutaneous:

• Erythropoietic Protoporphyria (EPP) ndi X-linked Porphyria (XLP): Izi zimatchedwanso "protoporphyrias" chifukwa mankhwala omwe amasonkhana m'matendawa ndi "protoporphyrin." "X-linked" amatanthauza kuti pali kusintha kwa majini pa chromosome ya X.
• Hepatoerythropoietic porphyria: matenda a chiwindiUwu ndi mtundu wosowa kwambiri wa porphyria.

Kodi zizindikiro za porphyria ndi ziti?

Zizindikiro zomwe mumakumana nazo komanso nthawi yomwe zimatha zimadalira mtundu wa porphyria yomwe muli nayo. Zizindikiro zimatha kukhala zochepa kwambiri kapena zowopsa kwambiri. Anthu ena omwe ali ndi porphyria sangakhale ndi zizindikiro zilizonse. Komabe, nthawi zina, zizindikirozi zimatha kukhala zoopsa ngati sizikuthandizidwa bwino.

Zizindikiro za Porphyria Yoopsa

Matenda a porphyria owopsa amayamba chifukwa cha kuchuluka kwa heme precursors aminolevulinic acid (ALA) ndi porphobilinogen (PBG). Zinthu zimenezi zimakhudza momwe mitsempha yanu imagwirira ntchito. Taganizirani izi, chilichonse kuyambira kusuntha minofu yanu mpaka kugaya chakudya chimayang'aniridwa ndi mitsempha. Porphyria imayambitsa mitsempha kuti isagwire bwino ntchito, zomwe zimayambitsa zizindikiro monga "kuukira."

Porphyria yoopsa ingayambitse zizindikiro monga:

• Kupweteka kwambiri m'mimba
• Kusanza ndi kusanza
• Kudzimbidwa
• Ululu pachifuwa, msana, m'manja, ndi/kapena m'miyendo
• Nkhawa
• Kusowa tulo
• Kusintha kwa maganizo monga chisokonezo, kusokonezeka maganizo, ndi kuona zinthu molakwika
• Ntchito yolimba
• Kugunda kwa mtima mwachangu (Tachycardia)
• Kuthamanga kwa magazi
• Kusanza, kumva kuwawa (Paresthesia)
• Kufooka kwa minofu kapena kufooka kwa minofu (izi zingakhudzenso minofu yomwe imakuthandizani kupuma)
• Kugwidwa ndi khunyu
• Mkodzo wakuda kapena wofiira (porphyrins ndi mankhwala ena amatha kusintha mtundu wa mkodzo)

Ngati muli ndi coproporphyria yobadwa nayo ``(HCP)`` kapena variegate porphyria ``(VP)``, khungu lanu likhoza kukhala losakhudzidwa ndi kuwala kwa dzuwa. Kukhudzana ndi kuwala kwa dzuwa kungayambitse matuza, kusintha mtundu wa khungu, ndi/kapena zipsera.

Kodi porphyria yoopsa imatha kukhala nthawi yayitali bwanji?

Kuukira kotereku kumatha kukhala masiku atatu mpaka asanu ndi awiri. Koma makamaka ngati sikuchiritsidwa, kumatha kukhala nthawi yayitali. Zingatenge milungu mpaka miyezi kuti zizindikiro zithe kwathunthu. Mutha kukhala ndi kuukira kamodzi kapena zingapo m'moyo wanu. Komabe, anthu ena amatha kukhala ndi kuukira kangapo pachaka.

Kuchuluka kwa porphyria kungayambitse mavuto a nthawi yayitali monga kuthamanga kwa magazi, kulephera kwa impso, komanso khansa ya chiwindi.

Zizindikiro za Matenda a Cutaneous Porphyria Osatupa (EPP/XLP)

Ma porphyria a m'matupi amayambitsa zizindikiro za pakhungu mukakumana ndi kuwala kwa dzuwa. Izi zikuphatikizapo kuwala kwa dzuwa kunja, komanso kuwala kwa dzuwa komwe kumalowa kudzera m'mawindo. Mitundu ina ya kuwala kochita kupanga ingayambitsenso zizindikiro. Mtundu uwu wa porphyria sumayambitsa kupweteka kwadzidzidzi, kwakukulu m'mimba kapena zizindikiro zina zomwe zimakhala za "kuukira."

Mukayamba kuchitapo kanthu chifukwa cha kuwala kwa dzuwa, poyamba mungamve kuyabwa. Ngati simutuluka padzuwa mwachangu, mutha kukhala ndi zomwe madokotala amatcha "phototoxic reaction." Mutha kukhala ndi zizindikiro za pakhungu monga izi, makamaka pankhope panu, m'manja, ndi m'mapazi:

• Kuyabwa
• Kusanza
• Kutupa
• Ululu waukulu pamalo okhudzidwa
• Madontho ang'onoang'ono ofiirira, ofiira, kapena abulauni pakhungu (`(Petechiae)`)

Izi zimakhala zopweteka kwambiri ndipo nthawi zambiri zimatha masiku awiri mpaka asanu. Muyenera kuyesetsa kukhala m'nyumba ndikuziziritsa malo omwe akhudzidwa (mwachitsanzo, ndi mpweya wozizira wochokera ku choziziritsira mpweya).

Zizindikiro za matenda a porphyria a khungu lotupa

Porphyria Cutanea Tarda (PCT)

Anthu omwe ali ndi PCT amatha kukhala ndi zizindikiro monga:

• Matuza a pakhungu (nthawi zambiri kumbuyo kwa manja)
• Zipsera
• Kusintha kwa mtundu wa khungu
• Kukhuthala kwa khungu
• Khungu lofooka lomwe limang'ambika mosavuta ngakhale litavulala pang'ono kapena kupanikizika
• Kumera tsitsi mopitirira muyeso (nthawi zambiri pankhope, m'mbali mwa mphumi, kapena m'malo ngati pachibwano)

Congenital Erythropoietic Porphyria (CEP)

Mtundu woopsa wa porphyria umayamba kusonyeza zizindikiro atangobadwa kumene kapena ali mwana kwambiri. Chizindikiro choyamba ndi mkodzo wofiira. Chifukwa matewera a mwana amakhala ofiira, madokotala nthawi zambiri amayesedwa kuti ayambe ayang'ane matenda a mkodzo.

Zizindikiro zina za CEP ndi izi:

• Khungu limatupa kwambiri ngakhale litakhudzidwa ndi kuwala pang'ono kwa dzuwa kapena kuwala kwa fluorescent
• Matenda a matuza amafalikira, zomwe zimayambitsa matenda a mafupa ndi kuwonongeka kwa mafupa
• Kutayika kwa ziwalo zina za nkhope (khutu ndi mphuno)
• Mano akusanduka imvi-bulauni
• Kuchepa kwa magazi m'thupi - Izi zikutanthauza kusowa kwa maselo ofiira m'magazi. Nthawi zina kuikidwa magazi n'kofunika.
• Kukula kwa ndulu
• Kuchuluka kwa ma platelet (`(Kuchuluka kwa ma platelet)`)

Kodi ndi zifukwa ziti zomwe zimayambitsa porphyria?

Kuchuluka kwa porphyria kumachitika chifukwa cha kusintha kwa majini ena. Komabe, kungotengera kusintha kwa majini sikutanthauza kuti mudzakhala ndi zizindikiro za porphyria.Anthu ambiri omwe ali ndi kusintha kwa majini komwe kumakhudzana ndi porphyria alibe zizindikiro. Izi zikutanthauza kuti kuyezetsa majini kokha sikungatsimikizire matendawa. Njira yokhayo yodziwira ngati zizindikiro zanu zimayambitsidwa ndi porphyria yoopsa ndi kuyesa mkodzo wanu kuti muwone kuchuluka kwa ALA ndi PBG.

Akatswiri amakhulupirira kuti zinthu zina, monga mahomoni, mankhwala ena, ndi zakudya zomwe mumadya, zingathandize kuti matenda ayambe. Ngati mwabadwa ndi kusintha kwa majini komwe kumalumikizidwa ndi acute porphyria, zinthu zina izi zingapangitse kuti matendawa ayambe.

Zinthu zomwe zingayambitse mitundu iyi ya ziwopsezo ndi izi:

• Kuchuluka kwa mahomoni ogonana a akazi (monga, panthawi ya luteal ya mwezi wanu wa msambo)
• Mankhwala ena (monga mapiritsi ogonetsa, mapiritsi oletsa kubereka)
• Kumwa mowa mopitirira muyeso
• Kusuta
• Kudya chakudya chochepa cha carbohydrate (monga, mukasala kudya kapena mukudya zakudya zapadera)

Zifukwa za Porphyria Cutanea Tarda (PCT)

PCT ndi mtundu wa porphyria womwe nthawi zambiri umapezeka mwa akuluakulu, ndipo umasiyana pang'ono ndi mitundu ina ya porphyria. Madokotala amautcha kuti "zifukwa zomwe zapezeka." Izi zikutanthauza kuti mutha kudwala matendawa ngakhale mutakhala kuti mulibe majini.

Kawirikawiri, zinthu ziwiri kapena zingapo zomwe zimayambitsa chiopsezo zimasokoneza kupanga heme mwachizolowezi. Zinthu zimenezi zikuphatikizapo:

• Kugwiritsa ntchito estrogen (monga mapiritsi oletsa kubereka kapena mankhwala olowa m'malo mwa mahomoni)
• Kumwa mowa mopitirira muyeso
• Kuchuluka kwa chitsulo m'thupi (`(Kuchuluka kwa chitsulo / hemochromatosis)`)
• Matenda a chiwindi C
• Matenda a HIV
• Kusuta

Kodi madokotala amazindikira bwanji matendawa?

Madokotala amazindikira porphyria mwa kukupimani mwakuthupi ndikuchita mayeso a labu. Mutha kukhala ndi mayeso amodzi kapena angapo mwa awa:

• Kuyezetsa magazi
• Mayeso a mkodzo
• Mayeso a chopondapo

Dokotala wanu adzakufotokozerani mayeso omwe muyenera kuchita komanso zomwe mayeso aliwonse angapeze. Dokotala wanu angakulimbikitseninso kuyezetsa majini kwa inu ndi ena m'banja mwanu. Izi zitha kuzindikira kusintha kwa majini komwe kungayambitse porphyria.

Kodi porphyria imachiritsidwa bwanji?

Njira zochiritsira zimadalira mtundu wa porphyria womwe muli nawo komanso momwe umakukhudzirani. Dokotala wanu adzakufotokozerani zomwe zili bwino pa vuto lanu. Nazi zina mwazinthu zomwe mungayembekezere.

Chithandizo cha Acute Porphyrias

Ngati muli ndi vuto la porphyria, mungafunike kupita kuchipatala kuti mukalandire chithandizo mukakumana ndi "kuukira." Mu chipatala, madokotala adzachita chimodzi kapena zingapo mwa izi:

• Kupereka mankhwala ochepetsa milingo ya ALA ndi PBG (hemin infusion)
• Kupereka mankhwala kuti achepetse ululu, nseru, ndi/kapena matenda a khunyu
• Kupereka madzi m'mitsempha (m'mitsempha)
• Kuyang'anira kuchuluka kwa ma electrolyte anu ndikuwonjezeranso ngati pakufunika.
• Kusamala ndi kusintha kwa maganizo anu

Pofuna kupewa matenda ena mtsogolo, dokotala wanu angakulembereni mankhwala otchedwa givosiran. Iyi ndi jakisoni wa mwezi uliwonse womwe umaletsa kupanga mopitirira muyeso kwa ALA ndi PBG.

Muyeneranso kupewa zinthu zomwe zimayambitsa vutoli monga:

• Mankhwala ena
• Kusala kudya ndi njira zina zochepetsera kalori
• Kugwiritsa ntchito mowa
• Kugwiritsa ntchito fodya
• Kuwonekera padzuwa (ngati muli ndi VP kapena HCP)

Chithandizo cha Cutaneous Porphyrias

Kaya muli ndi mtundu wanji wa Cutaneous Porphyria, ndikofunikira kuteteza khungu lanu kuti mupewe zizindikiro. Kuteteza padzuwa kokha nthawi zambiri sikokwanira. Chinthu chabwino kwambiri choti muchite ndikupewa kukhala padzuwa momwe mungathere. Ngati mukuyenera kukhala padzuwa, valani zovala zoteteza kudzuwa. Dokotala wanu adzakulangizani zomwe zili zabwino kwa inu. Mungafunikenso kupewa mitundu ina ya kuwala kochita kupanga.

Chithandizo cha EPP/XLP

Dokotala wanu angakulembereni mankhwala otchedwa afamelanotide. Ichi ndi choyikamo chaching'ono kwambiri. Dokotala wanu adzachiyika pansi pa khungu m'mimba mwanu. Mankhwala omwe atulutsidwa kuchokera ku choyikamocho angathandize kuchepetsa zizindikiro zopweteka zomwe zimachitika chifukwa cha dzuwa. Dokotala wanu adzayang'aniranso momwe chiwindi chanu chikugwira ntchito nthawi zonse ndikuwonetsetsa kuti muli ndi vitamini D wochepa.

Anthu omwe ali ndi EPP/XLP ali ndi mwayi waukulu wopeza miyala ya m'chiwindi. Odwala ena a EPP/XLP amathanso kukhala ndi vuto la chiwindi. Pa milandu yoopsa, chiwindi chingalephere kugwira ntchito. Izi zingafunike kuikidwa chiwindi, nthawi zina kutsatiridwa ndi kuikidwa mafupa.

Chithandizo cha PCT

Dokotala akhoza kulemba zinthu monga:

• Kuchotsa magazi pang'ono nthawi ndi nthawi kumachotsa chitsulo chochuluka m'thupi. Izi zingathandize ngati chitsulo chochuluka chikusokoneza kupanga heme.
• Hydroxychloroquine yotsika: Mankhwalawa amathandiza kuchotsa ma porphyrins ochulukirapo m'thupi lanu. Amatuluka mu mkodzo wanu.

Chithandizo cha CEP

Ndikofunikira kwambiri kudziteteza ku kuwala kwa dzuwa ndi magetsi a fluorescent kuti mupewe kutupa ndi zovuta zina. Ngati kutupa kukuchitika, mafuta ophera maantibayotiki angafunike. Ngati matendawa ndi oopsa, mankhwala ophera maantibayotiki akamwa kapena a m'kamwa angafunike.

Dokotala wanu nthawi zonse amawunika kuchuluka kwa hemoglobin m'magazi anu kuti adziwe ngati pakufunika kuikidwa magazi. Kwa iwo omwe ali ndi matenda oopsa kwambiri, kuikidwa mafupa kungakhale kofunikira. Iyi ndiyo njira yokhayo yochiritsira matendawa.

Kodi ndiyenera kupita kwa dokotala liti?

Mukakhala ndi porphyria, kuyezedwa nthawi zonse (``kutsatira'') ndi dokotala wanu kudzakhala gawo la moyo wanu. Dokotala wanu adzakuuzani nthawi yomwe muyenera kubwera kudzakumana ndi dokotala wanu. Kukumana ndi dokotalayu n'kofunika kwambiri kuti muwone momwe matendawa akukhudzira thupi lanu komanso kuti muwone zizindikiro zilizonse za mavuto. Mudzafunika kuyezedwa magazi ndi mkodzo nthawi zonse, komanso kuyezedwa kuti muwone momwe ziwalo zina zimagwirira ntchito.

Kodi munthu amene ali ndi porphyria angayembekezere tsogolo lotani?

Malingaliro anu amadalira zinthu izi:

• Mtundu wa porphyria womwe muli nawo
• Zakukhudzani kwambiri bwanji
• Mavuto aliwonse omwe angabuke

Dokotala wanu angakupatseni lingaliro lolondola kwambiri la zomwe mungayembekezere mtsogolo.

Porphyria ingakhudze kwambiri moyo wanu watsiku ndi tsiku. Zizindikiro zazikulu zimatha kusokoneza zochita zanu zatsiku ndi tsiku, zomwe zimapangitsa kuti zikhale zovuta kugwira ntchito, kusamalira banja lanu, komanso kusangalala ndi zosangalatsa. Mutha kumva kutopa kwambiri, mwakuthupi komanso m'maganizo.

Uzani dokotala wanu momwe mukumvera. Iye angakuuzeni za zinthu ndi magulu othandizira omwe angakuthandizeni. Kulumikizana ndi anthu ammudzi a porphyria kungakuthandizeni kudziwa zambiri za vuto lanu ndikupeza njira zothanirana nalo.

Kukhala ndi matenda osowa monga porphyria kungakhale kosungulumwa, kokhumudwitsa, komanso koopsa kwambiri. Mungafune kuti achibale anu ndi anzanu amvetse momwe mukumvera. Mwina munayenera kufotokozera ena za porphyria yanu ndikuwafunsa chifukwa chake simungathe kuchita zinthu zina.

Kulikonse komwe muli, dziwani kuti simuli nokha.Ngakhale kuti porphyria ndi yosowa kwambiri poyerekeza ndi matenda ena ambiri, pali gulu lalikulu lomwe likuyembekezera kukuthandizani. Lowani nawo magulu othandizira a porphyria pa intaneti, kapena funsani dokotala wanu kuti akutumizireni ku gulu limodzi. Kupeza anthu omwe akumvetsa momwe mukumvera kungathandize kuti zikhale zosavuta kuthana ndi zovuta ndi zovuta za moyo.

Chinthu chofunika kwambiri chomwe tiyenera kuphunzira kuchokera pa izi (Uthenga Wopita Nawo Kunyumba)

Porphyria ndi matenda ovuta komanso osowa. Komabe, ngati mwaphunzitsidwa za matendawa, tsatirani malangizo a dokotala wanu, ndikupewa zinthu zomwe zimapangitsa kuti zizindikiro zanu zikhale zovuta, mutha kukhala bwino ndi matendawa. Ndikofunikira kusamala thupi lanu, zizindikiro zanu, ndikuonana ndi dokotala wanu nthawi yake. Kumbukirani, simuli nokha, ndipo musazengereze kupempha thandizo.

Porphyria , heme, porphyrin, ma enzyme, matenda a majini, matenda a pakhungu, kupweteka m'mimba