Wigeze wumva "Porphyria"? Reka tuvuge kuri iyi ndwara idakunze kugaragara!

Uburyo bugoye cyane kandi butangaje bubaho mu mubiri wawe ni ugukora ikintu cyitwa "Heme". Iyi Heme ni ingenzi mu gukora Hemoglobine, ishinzwe ibara ry'umutuku w'amaraso yacu kandi igatwara ogisijeni mu mubiri wose. Si ibyo gusa, ahubwo iyi Heme ifasha mu yindi mirimo myinshi y'ingenzi mu turemangingo twacu. Ariko, rimwe na rimwe inzira yo gukora iyi Heme ishobora kugenda nabi. Icyo gihe ni bwo indwara ziterwa n'ubwoko budasanzwe bw'indwara zitwa "Porphyria" ziba. Ntugahangayike, reka tubiganireho mu buryo bworoshye.

Porphyria ni iki mu by'ukuri?

Mu magambo make, porphyria ni izina risanzwe ry’itsinda ry’indwara zidasanzwe zigira ingaruka ku gikorwa cyo gukora heme mu mubiri wacu. Tekereza muri ubu buryo, gukora heme ni nk'igikorwa kigoye cy’intambwe umunani. Buri ntambwe muri izi isaba imisemburo umunani yihariye kugira ngo ikore neza. Imisemburo ni poroteyine zihutisha ibikorwa bya shimi mu mubiri wacu. Imisemburo yitwa "porphyrins" na "porphyrin precursors" na yo igira uruhare muri iki gikorwa.

Noneho tekereza kuri ibi, bigenda bite iyo enzyme muri imwe muri izi ntambwe umunani idakora neza? Aho niho ikibazo gitangira. Nk'uko bigenda mu ruhererekane rw'ibikorwa, iyo iyo enzyme idakora, porphyrines na porphyrines byaje mbere y'uko bitangira kwirundanya mu turemangingo tw'umubiri. Ni uku kwirundanya kw'imiti bitera ibimenyetso bya porphyria.

Ushobora kuba wibaza uti "Kuki iyi enzyme idakora neza?" Akenshi, impamvu ni ihinduka ry'uturemangingo. Ni ukuvuga ko hari impinduka muri gene igena enzyme igira uruhare mu ikorwa rya heme. Iyi ndwara, yitwa porphyria, ikunze kuba umurage. Ni ukuvuga ko iyi hinduka ry'uturemangingo rishobora kwanduzwa abandi bagize umuryango. Iyo bibaye, bashobora no kugira porphyria cyangwa bakaba ari bo batwara iyi ndwara.

Ariko ntugahangayike. Nusanga ufite iyi ndwara, abaganga bashobora kugufasha gucunga ibimenyetso byawe, ndetse wenda no kubikumira. Ibi bishobora kugabanya ingaruka izi ndwara zigira ku buzima bwawe.

Ese hari ubwoko bwa porphyria?

Yego, hari ubwoko bugera ku munani bwa porphyria. Abaganga bose hamwe bayita "porphyria." Abaganga nibo bazagena ubwoko bwa porphyria ufite hashingiwe ku bimenyetso byawe n'aho ibyo bintu by'inyongera navuze mbere byirundanyiriza mu mubiri wawe.

Muri rusange, ubwo bwoko bwa porphyria bushobora kugabanywamo amatsinda abiri y'ingenzi hashingiwe ku bimenyetso byabwo:

• Porphyria ikaze (rimwe na rimwe yitwa "Porphyria y'umwijima ikaze")
• Porphyria zo mu bwoko bwa cutaneous

Porphyria ikabije

Iri tsinda ry'indwara rishobora gutera ububabare bukomeye mu gifu n'ibindi bimenyetso. Hari ubwoko bumwe bwa porphyria bushobora gutuma uruhu rwawe rushobora kwakirwa n'izuba ndetse bigatera uduheri ku ruhu.

Dore ubwoko bumwe na bumwe bwa porphyria ikaze:

• Porphyria ikabije (AIP): Ubu ni bwo bwoko bukunze kugaragara bwa porphyria ikabije. Ishobora gutera ububabare butunguranye kandi bukomeye mu nda, ariko nta bwoba bwo kumva izuba cyangwa uduheri tw'uruhu.
• Hereditary Coproporphyria (HCP): Hamwe no kuribwa mu gifu bitunguranye, uruhu rwawe rushobora kwakirwa n'izuba n'uduheri.
• Variegate Porphyria (VP): Muri iyi ndwara, ushobora kugira kuribwa mu gifu bitunguranye cyangwa uduheri two mu ruhu. Ibi bishobora kuba bibi kurushaho iyo ushyizwe ku zuba.
• Porphyria yo kubura ALAD: ALAD ihagarariye enzyme "delta-aminolevulinic acid (ALA) dehydratase". Ubu ni ubwoko bwa porphyria budasanzwe, bukunze kugaragaza ibimenyetso mu bwana.

Porphyria zo mu bwoko bwa cutaneous

Iri tsinda ry'indwara ritera ibimenyetso by'uruhu iyo umuntu ahuye n'izuba. Ibi bishobora kuba birimo ububabare, guhindura ibara ry'uruhu, kubyimba, cyangwa kuzana uduheri. Bitewe n'impamvu nyamukuru, bamwe bashobora kugira uduheri tw'uruhu twitwa Cutaneous Porphyrias, mu gihe abandi bashobora kutazana uduheri.

Ubwoko bwa Porphyrias zo mu bwoko bwa Blistering Cutaneous:

• Porphyria Cutanea Tarda (PCT): Ubu ni bwo bwoko bwa porphyria bukunze kugaragara cyane.
• Porphyria yo mu bwoko bwa Congenital Erythropoietic (CEP): "Erythropoietic" yerekeza ku musokoro w'amagufwa yawe. Aha niho hantu nyamukuru porphyrines ziyongera muri iyi ndwara. Ubu kandi ni ubwoko bwa porphyria budasanzwe.

Ubwoko bwa Porphyria zo mu bwoko bwa Cutaneous Porphyrias zidaturika:

• Erythropoietic Protoporphyria (EPP) na X-linked Porphyria (XLP): Ibi kandi byitwa "protoporphyrias" kuko shimi yikusanyiriza muri izi ndwara ari "protoporphyrin." "X-linked" bivuze ko hari impinduka mu miterere y'uturemangingo kuri chromosome ya X.
• Porphyria yo mu maraso:Ubu kandi ni ubwoko bwa porphyria budasanzwe cyane.

Ni ibihe bimenyetso bya Porphyria?

Ibimenyetso ubona n'igihe bizamara bizaterwa n'ubwoko bwa porphyria ufite. Ibimenyetso bishobora kuba byoroheje cyane cyangwa bikomeye cyane. Hari abantu barwaye porphyria bashobora kutagira ibimenyetso na gato. Ariko, rimwe na rimwe, ibi bimenyetso bishobora gushyira ubuzima mu kaga iyo bitavuwe neza.

Ibimenyetso bya Porphyria ikabije

Porphyria ikabije iterwa no kwiyongera kwa heme precursors aminolevulinic acid (ALA) na porphobilinogen (PBG). Ibi bintu bigira ingaruka ku buryo uturemangingo tw’imitsi dukora. Tekereza nawe, ibintu byose kuva ku kwimura imitsi yawe kugeza ku gusya ibiryo bigenzurwa n’uturemangingo tw’imitsi. Porphyria ituma uturemangingo tw’imitsi dukora nabi, bigatera ibimenyetso mu buryo bw’ “ibitero.”

Porphyria ikabije ishobora gutera ibimenyetso nk'ibi:

• Kubabara mu gifu cyane
• Isesemi no kuruka
• Impatwe
• Kubabara mu gituza, mu mugongo, mu maboko no mu maguru
• Guhangayika
• Gusinzira nabi
• Impinduka mu mutwe nko kwitiranya ibintu, guhungabana, no kubona ibintu mu buryo butunguranye
• Akazi gakomeye
• Umutima utera vuba (Tachycardia)
• Umuvuduko ukabije w'amaraso
• Kubura ibinure, kumva urimo gushyuha (Paresthesia)
• Ubunebwe bw'imitsi cyangwa ubumuga (ibi bishobora no kugira ingaruka ku mitsi igufasha guhumeka)
• Indwara zo mu mutwe
• Inkari zijimye cyangwa zitukura (porphyrines n'ibindi binyabutabire bishobora guhindura ibara ry'inkari)

Niba ufite coproporphyria ``(HCP)`` cyangwa variegate porphyria ``(VP)``, uruhu rwawe rushobora kuba rworoshye kumva izuba. Kugerwaho n'izuba bishobora gutera uduheri, ibara ry'uruhu, cyangwa inkovu.

Porphyria ikaze ishobora kumara igihe kingana iki?

Igitero nk'iki gishobora kumara iminsi itatu kugeza kuri irindwi. Ariko, cyane cyane iyo kitavuwe, gishobora kumara igihe kirekire. Bishobora gufata ibyumweru kugeza ku mezi kugira ngo ibimenyetso bishire burundu. Ushobora kugira igitero kimwe cyangwa bike mu buzima bwawe. Ariko, hari abantu bashobora kugira ibitero byinshi mu mwaka.

Porphyria ikabije ishobora gutera ingorane z'igihe kirekire nko kuzamuka k'umuvuduko w'amaraso, impyiko zinanirwa gukora neza, ndetse na kanseri y'umwijima gake cyane.

Ibimenyetso bya Porphyria yo mu bwoko bwa Cutaneous Porphyrias idaturika (EPP/XLP)

Porphyria zo mu gituza zitera ibimenyetso by'uruhu iyo uhuye n'izuba. Ibi birimo urumuri rw'izuba rwo hanze, ndetse n'izuba ryinjira rinyuze mu madirishya. Hari ubwoko bumwe bw'urumuri rw'ubukorano nabwo bushobora gutera ibimenyetso. Ubu bwoko bwa porphyria ntibutera ububabare butunguranye kandi bukomeye mu gifu cyangwa ibindi bimenyetso bisanzwe ku "gitera".

Iyo utangiye kugira ingaruka ku zuba, ushobora kumva urimo kwishimagura mu ntangiriro. Iyo udasohoka ku zuba vuba, ushobora kugira icyo abaganga bita "phototoxic reaction". Ushobora kugira ibimenyetso nk'ibi by'uruhu, cyane cyane mu maso, mu biganza no mu birenge:

• Kuryarya
• Gucika intege
• Kubyimba
• Ububabare bukabije ku gace kagize ikibazo
• Uduheri duto tw'umuhengeri, umutuku, cyangwa umukara ku ruhu (`(Petechiae)`)

Ibi bibabaza cyane kandi akenshi bimara iminsi ibiri kugeza kuri itanu. Ugomba kugerageza kuguma mu nzu no gukonjesha ahantu hagize ikibazo (urugero, ukoresheje umwuka ukonje uva muri conditioner).

Ibimenyetso bya Porphyria yo mu bwoko bwa Blistering Cutaneous

Porphyria Cutanea Tarda (PCT)

Abantu barwaye PCT bashobora kugira ibimenyetso nk'ibi:

• Uduheri tw'uruhu (akenshi tuba inyuma y'amaboko)
• Inkovu
• Guhindura ibara ry'uruhu
• Uruhu rubyimba
• Uruhu rworoshye rucika vuba nubwo rwakomereka gato cyangwa rwangiritse
• Umusatsi ukabije (akenshi mu maso, ku mpande z'agahanga, cyangwa ahantu nko ku kananwa)

Porphyria yo mu bwoko bwa Congenital Erythropoietic Porphyria (CEP)

Ubu bwoko bukomeye bwa porphyria butangira kugaragaza ibimenyetso nyuma gato yo kuvuka cyangwa mu bwana bwe. Ikimenyetso cya mbere ni inkari zitukura. Kubera ko amashereka y'umwana aba afite ibara ry'umutuku, abaganga bakunze kugerageza kubanza gusuzuma indwara zo mu nzira y'inkari.

Ibindi bimenyetso bya CEP birimo:

• Uruhu rurushaho kubyimba nubwo rwaba rutwikiriye izuba rito cyangwa urumuri ruke rw'amashanyarazi
• Ibisebe byandura, bigatera kwandura amagufwa no kwangirika kw'amagufwa
• Gutakaza ibice bimwe na bimwe byo mu maso (gutwi no mu mazuru)
• Amenyo ahinduka imvi n'umukara
• Anemia - Ibi bivuze ibura ry'uturemangingo dutukura mu maraso. Hari igihe guterwa amaraso biba ngombwa.
• Kwaguka kw'imitsi
• Umubare muto wa platelets (`(Umubare muto wa platelets)`)

Ni izihe mpamvu zitera porphyria?

Porphyria ikabije iterwa n'impinduka mu turemangingo tumwe na tumwe. Ariko, kuba uvukana impinduka mu turemangingo ntibivuze ko uzagira ibimenyetso bya porphyria.Abantu benshi bafite impinduka mu miterere y’uturemangingo zijyana na porphyria nta bimenyetso bafite. Ibi bivuze ko ibizamini byonyine bitakwemeza ko indwara ya porphyria ari yo isanzwe. Uburyo bwonyine bwo kumenya neza niba ibimenyetso byawe biterwa na porphyria ikomeye ni ugupima inkari zawe kugira ngo urebe urugero rwa ALA na PBG.

Impuguke zitekereza ko hari ibindi bintu, nk'imisemburo, imiti imwe n'imwe, n'ibyo urya n'ibyo unywa, bigira uruhare runini mu gutangira kwandura indwara zikomeye. Niba waravutse ufite imiterere y'uturemangingo ifitanye isano na porphyria ikabije, ibi bintu bindi bishobora gutuma indwara zirushaho kwiyongera.

Ibintu bishobora gutera ubu bwoko bw'ibitero ni ibi bikurikira:

• Ubwiyongere bw'imisemburo y'igitsina gore (urugero, mu gihe cy'ukwezi kwawe kwa luteal)
• Imiti imwe n'imwe (urugero, ibinini bisinziriza, ibinini byo kuboneza urubyaro)
• Kunywa inzoga nyinshi
• Kunywa itabi
• Kurya karubohidrati nke (urugero, iyo wiyirije ubusa cyangwa ukurikiza indyo yihariye)

Impamvu zitera Porphyria Cutanea Tarda (PCT)

PCT ni ubwoko bwa porphyria bukunze kugaragara ku bantu bakuru, kandi butandukanye gato n'ubundi bwoko bwa porphyria. Abaganga bayita "impamvu zikomoka ku ndwara." Ibi bivuze ko ushobora kurwara iyo ndwara nubwo waba udafite imiterere y'uturemangingo.

Ubusanzwe, ibintu bibiri cyangwa byinshi bishobora gutera ingaruka bihurira hamwe bigahungabanya umusaruro usanzwe wa heme. Ibyo bintu birimo:

• Gukoresha estrogen (urugero, ibinini byo kuboneza urubyaro cyangwa imiti isimbura imisemburo)
• Kunywa inzoga nyinshi
• Ubwiyongere bw'ingano y'icyuma mu mubiri (`(Uburemere bw'icyuma / hemochromatosis)`)
• Ubwandu bwa Hepatite C
• ubwandu bwa virusi itera SIDA
• Kunywa itabi

Ni gute abaganga basuzuma iyi ndwara?

Abaganga bapima porphyria bagusuzuma umubiri wawe no gukora ibizamini byo muri laboratwari. Ushobora gukora kimwe cyangwa byinshi muri ibi bizamini:

• Gupima amaraso
• Ibipimo by'inkari
• Ibizamini by'intebe

Muganga wawe azagusobanurira ibizamini ugomba gukora n'icyo buri kizamini gishobora kubona. Muganga wawe ashobora kandi kukugira inama yo gupima imiterere y'uturemangingo kuri wewe no ku bandi bo mu muryango wawe. Ibi bishobora kugaragaza impinduka zihariye mu ngirabuzimafatizo zishobora gutera porphyria.

Porfiriya ivurwa ite?

Uburyo bwo kuvura buterwa n'ubwoko bwa porphyria ufite n'uko ikugiraho ingaruka. Muganga wawe azagusobanurira icyo ari cyo cyiza ku ndwara yawe. Dore bimwe mu bintu rusange ushobora kwitega.

Uburyo bwo kuvura Porphyria ikaze

Niba ufite indwara ya porphyria ikabije, ushobora gukenera kujya mu bitaro kugira ngo uvurwe iyo ugize "agakoko". Mu bitaro, abaganga bazakora kimwe cyangwa byinshi muri ibi bikurikira:

• Gutanga imiti igabanya urugero rwa ALA na PBG (hemin infusion)
• Gutanga imiti yo kugabanya ububabare, isesemi, cyangwa indwara y'igicuri
• Gutanga ibinyobwa biva mu mitsi (mu mashini)
• Gukurikirana urugero rw'amashanyarazi yawe no kuyasubiza mu buryo bunoze bibaye ngombwa
• Kwita ku mpinduka mu miterere y'imitekerereze yawe

Kugira ngo hirindwe ibitero bizaza, muganga wawe ashobora kukwandikira umuti witwa givosiran. Uru ni urushinge rwa buri kwezi ruhagarika ikorwa ry’umuti urenze urugero wa ALA na PBG.

Uzakenera kandi kwirinda ibintu bishobora gutera ikibazo nk'ibi:

• Imiti imwe n'imwe
• Kwiyiriza ubusa n'uburyo bumwe na bumwe bwo kugabanya kalori
• Ikoreshwa ry'inzoga
• Ikoreshwa ry'itabi
• Kwihanganira izuba (niba ufite VP cyangwa HCP)

Uburyo bwo kuvura indwara ya Cutaneous Porphyrias

Uko ubwoko bwose bwa Cutaneous Porphyria waba ufite, ni ngombwa kurinda uruhu rwawe kugira ngo wirinde ibimenyetso. Kwisiga izuba gusa ntabwo bihagije. Ikintu cyiza cyo gukora ni ukwirinda kuba ku zuba uko bishoboka kose. Niba ugomba kuba ku zuba, ambara imyenda irinda izuba. Muganga wawe azakugira inama ku cyakubera cyiza. Ushobora kandi kwirinda ubwoko bumwe na bumwe bw'urumuri rw'ubukorano.

Uburyo bwo kuvura EPP/XLP

Muganga wawe ashobora kukwandikira umuti witwa afamelanotide. Uyu ni umuti muto cyane. Muganga wawe azawushyira munsi y'uruhu mu nda yawe. Umuti uva muri uwo muti uzafasha kugabanya ibimenyetso by'ububabare biterwa no kwihisha izuba. Muganga wawe azakurikirana imikorere y'umwijima wawe buri gihe kandi arebe neza ko urugero rwa Vitamine D rwawe rutari hasi.

Abantu barwaye EPP/XLP bafite amahirwe menshi yo kurwara utubuye mu gatuza. Bamwe mu barwayi ba EPP/XLP bashobora no kugira ibibazo by'umwijima. Mu bihe bikomeye, umwijima ushobora kunanirwa. Ibi bishobora gusaba guterwa umwijima, rimwe na rimwe bigakurikirwa no guterwa umwongo w'amagufwa.

Uburyo bwo kuvura PCT

Muganga ashobora kukwandikira ibintu nk'ibi:

• Phlebotomy : Gukuraho amaraso make buri gihe bikuraho icyuma gikabije mu mubiri. Ibi bishobora gufasha niba icyuma cyinshi kibangamira ikorwa rya heme.
• Hydroxychloroquine ifite dose nke: Uyu muti ufasha gukuraho porphyrines nyinshi mu mubiri wawe. Zisohorwa mu nkari zawe.

Uburyo bwo kuvura CEP

Ni ingenzi cyane kwirinda imirasire y'izuba n'amatara ya fluorescent kugira ngo wirinde uduheri n'ingorane. Iyo uduheri tugaragaye, amavuta yo kwisiga arwanya udukoko ashobora gukenerwa. Iyo ubwandu bukomeye, imiti yo kunywa cyangwa imiti yo mu bwoko bwa IV ishobora gukenerwa.

Muganga wawe azakurikirana buri gihe urugero rwa hemoglobine yawe kugira ngo arebe niba bikenewe guterwa amaraso. Ku bantu bafite ibibazo bikomeye cyane, gutera umwongo w'amagufwa bishobora kuba ngombwa. Ubu ni bwo buryo bwonyine bwo gukiza iyo ndwara.

Ni ryari ngomba kujya kwa muganga?

Iyo ufite porphyria, kwisuzumisha buri gihe (``gukurikirana'') kwa muganga wawe bizaba igice cy'ubuzima bwawe. Muganga wawe azakubwira igihe ugomba kuza mu gihe cyo kwisuzumisha. Iyi gahunda ni ingenzi kugira ngo ukurikirane uburyo indwara igira ingaruka ku mubiri wawe no kugira ngo umenye ibimenyetso by'ingorane. Uzakenera gupimwa amaraso n'inkari buri gihe, ndetse n'ibizamini kugira ngo urebe imikorere y'izindi ngingo.

Ni ubuhe buryo bw'ejo hazaza umuntu urwaye porphyria ashobora kwitega?

Uko ubona ibintu biterwa n'ibi bintu:

• Ubwoko bwa porphyria ufite
• Uburyo byakugizeho ingaruka mbi cyane
• Ingorane iyo ari yo yose ivuka

Muganga wawe ashobora kuguha igitekerezo nyacyo cy'ibyo ugomba kwitega mu gihe kiri imbere.

Porphyria ishobora kugira ingaruka zikomeye ku buzima bwawe bwa buri munsi. Ibimenyetso bikomeye bishobora kubangamira imirimo yawe isanzwe, bigatuma bigorana gukora, kwita ku muryango wawe, no kwishimira ibyo ukora. Ushobora kumva unaniwe cyane, haba ku mubiri no mu mutwe.

Bwira muganga wawe uko umerewe. Ashobora kukubwira ibyerekeye inkunga n'amatsinda y'ubufasha ashobora kugufasha. Guhuza n'amatsinda ya porphyria bishobora kugufasha kumenya byinshi ku ndwara yawe no gushaka uburyo bwo kuyicunga.

Kubana n'indwara idakunze kugaragara nka porphyria bishobora kugutera irungu, bikagutera agahinda, kandi bigatera ubwoba cyane. Ushobora kuba wifuza ko umuryango wawe n'inshuti zawe basobanukirwa uko wumva umeze. Ushobora kuba waragombaga gusobanurira abandi porphyria yawe no kubabaza impamvu udashobora gukora ibintu bimwe na bimwe.

Aho uri hose, menya ko utari wenyine.Nubwo porphyria idakunze kugaragara ugereranyije n'izindi ndwara nyinshi, hari umuryango munini utegereje kugufasha. Jya mu matsinda yo gushyigikira porphyria kuri interineti, cyangwa usabe muganga wawe kohereza kuri rimwe. Kubona abantu basobanukiwe uko wumva bishobora koroshya cyane guhangana n'ibibazo n'ibiza by'ubuzima.

Ikintu cy'ingenzi tugomba kwigira kuri ibi (Ubutumwa bwo kujyana mu rugo)

Porphyria ni indwara igoye kandi idakunze kugaragara. Ariko, niba warayimenyeshejwe, ugakurikiza inama za muganga wawe, kandi ukirinda ibintu birushaho kuba bibi, ushobora kubaho neza n'iyi ndwara. Ni ngombwa kwita ku mubiri wawe, ibimenyetso byawe, no kubonana na muganga wawe ku gihe. Wibuke ko utari wenyine, kandi ntutindiganye gusaba ubufasha.

Porphyria , heme, porphyrin, enzymes, indwara z'uturemangingo, indwara z'uruhu, ububabare bwo mu nda