Ese ufite indwara idasanzwe utabasha gusobanukirwa? Ishobora kuba Porphyria y'umwijima ikabije!

Ese wumva urwaye igifu kidasanzwe, rimwe na rimwe umutima uremereye, ndetse n'ingingo zawe zigacika intege? Birashoboka ko n'abaganga batabasha kumenya icyo ari cyo. Kimwe muri ibi bimenyetso bidasanzwe, bisa nkaho bitajyanye tugiye kuvugaho uyu munsi ni indwara ya Acute Hepatic Porphyria (AHP). Ntugahangayike, ibi biragoye gato, ariko reka tubisobanukirwe mu buryo bworoshye.

Mu by'ukuri, porphyria y'umwijima ikabije (AHP) ni iki?

Muri make, AHP ni indwara idakunze kugaragara mu maraso . Itangira mu mwijima wawe. Ariko inagira ingaruka ku mitsi yawe, igatera ibimenyetso mu mubiri wawe wose. Tekereza nawe, hari ikintu cyitwa heme, ari cyo gice cya hemoglobine mu maraso yacu. Umubiri wacu ukeneye imisemburo itandukanye kugira ngo ukore iyi heme. Umuntu urwaye AHP aba afite ikibazo cyo kubura, cyangwa se kubura zimwe muri enzymes zikenewe kugira ngo ukore iyi heme.

Bigenda bite iyo ibi bibaye? Imwe mu miti yagombye gukoreshwa mu gukora heme irasigara. Ibi bisigazwa twabyita porphyrin precursors . Iyo ibi byiyongeranye, biba ari uburozi ku mubiri. Muri AHP, ubu burozi bubanza kwiyongera mu mwijima. Hanyuma, iyo bwinjiye mu maraso bugakorana n'imitsi, ibimenyetso bitangira kugaragara. Urabyumva?

Ese hari ubwoko butandukanye bwa AHP?

Yego, hari ubwoko bune bw'ingenzi bwa AHP. Ubwo bwoko bune bugabanyijemo ubwoko bwa enzymes navuze mbere, bitewe n'imisemburo idahagije. Buri bwoko bwitiriwe igice cyitwa "umwijima" kuko gitangira mu mwijima, naho igice cyitwa "igikatu" kuko ibimenyetso bigaragara mu buryo butunguranye. Dukurikije ubwoko busanzwe cyane kugeza ku budakunze kugaragara, dore ubwoko:

1. Porphyria ikabije (AIP): Iyi ni yo ikunze kugaragara cyane. Impinduka mu ngirabuzimafatizo ya HMBS itera ibura rya enzyme hydroxymethylbilane synthase (HMBS) (izwi kandi nka porphobilinogen deaminase (PBGD)). Iyi ishobora kuba impinduka nshya mu ngirabuzimafatizo, cyangwa ishobora kuragwa nk'ikintu gikomeye mu buryo bw'umubiri (ni ukuvuga ko indwara ishobora kubaho nubwo umubyeyi umwe gusa aba azunguye ngirabuzimafatizo).

2. Variegate Porphyria (VP): Impinduka mu ngirabuzimafatizo ya PPOX itera ibura rya enzyme protoporphyrinogen oxidase (PPO cyangwa PPOX). Ibi bishobora kandi kuragwa nk'ingirabuzimafatizo zigenga cyangwa izigenga.

3. Impinduka mu ngirabuzimafatizo ya 'CPOX ' (Hereditary Coproporphyria): Impinduka mu ngirabuzimafatizo ya 'CPOX' itera kubura kwa enzyme ya 'coproporphyrinogen oxidase' (CPOX). Ibi bishobora kandi kuragwa nk'ingirabuzimafatizo ya 'autosomal dominant' cyangwa ingirabuzimafatizo ya 'autosomal recessive'.

4. Porphyria yo kubura ALAD (Porphyria yo kubura ALAD - ADP):Impinduka mu ngirabuzimafatizo ya `ALAD` itera ibura rya enzyme `delta-aminolevulinic acid dehydratase (ALAD).` Iragwa mu buryo bwa `autosomal recessive` (ni ukuvuga ko indwara ishobora kubaho gusa iyo ababyeyi bombi barazwe ngirabuzimafatizo).

AHP igira ingaruka ki kuri njye?

Ibi biratangaje, kuko AHP idafata abantu bose kimwe. Hari abantu bafite ihinduka ry’uturemangingo tw’umubiri ariko ntibagire ibimenyetso . Abandi bashobora kugira "ibitero" by’ibimenyetso rimwe cyangwa kabiri gusa mu buzima bwabo. Ariko hari abantu bagira ibi bitero kenshi, abandi bakabirwara mu buryo buhoraho , bivuze ko bakomeza kugira ibimenyetso bigira ingaruka ku buzima bwabo bwa buri munsi. Hari igihe igitero gishobora kuba gikomeye cyane ku buryo ushobora kwihutira kujya mu bitaro byihutirwa. Ushobora kugira ububabare bukomeye bw’imitsi, impinduka z’uruhu, n’ibimenyetso bifitanye isano n’imitsi.

Ni nde ushobora kubibona cyane?

AHP ishobora kugira ingaruka ku bantu b'ubwoko ubwo aribwo bwose cyangwa ibara iryo ari ryo ryose. Ishobora kuragwa n'umubyeyi umwe cyangwa bombi bafite iyo gene mutation. Igitangaje ni uko abantu benshi badatanga ibimenyetso . Kugira ngo ibimenyetso bigaragare, iyo gene mutation yonyine ntabwo ihagije. Hari n'ibindi bintu byinshi bigomba kuba bihari.

Ni ibihe bintu bitera ikibazo?

• Impinduka mu misemburo (cyane cyane mu gihe cy'ubugimbi, gutwita, no mu gihe cy'imihango)
• Imiti imwe n'imwe
• Ikoreshwa ry'inzoga
• Kunywa itabi
• Umuhangayiko ukomeye
• Kugenzura imirire neza (cyane cyane kugabanya karori)

Ikindi kandi, ni ngombwa kumenya ko 80% by'abagaragaza ibimenyetso ari abagore bari mu kigero cyo kubyara .

AHP ikunze kugaragara gute?

Biragoye kuvuga neza, kuko iyi ndwara akenshi idakunze kugaragara neza. Ku isi yose, bivugwa ko abantu bagera kuri 5 ku 100.000 bashobora kuyirwara. Mu bwoko bwavuzwe haruguru, `Acute Intermittent Porphyria (AIP)` ni bwo bwoko bugaragara muri 80% gusa by'abantu bagaragaye. `ALAD-Deficiency Porphyria (ADP)` ni bwo bwoko budakunze kugaragara cyane, aho abantu 9 gusa bagaragaye ku isi yose. Tekereza, umuntu umwe gusa muri 10 bafite imiterere y'uturemangingo ifitanye isano na AHP ni we uzagaragaza ibimenyetso.

Ni ibihe bimenyetso bya AHP?

Ibimenyetso bya AHP biratangaje cyane. Bishobora kugora abarwayi n'abaganga kubyumva, kuko ibimenyetso bishobora kugaragara mu buryo butunguranye, bikaba bikomeye, kandi bigasa n'aho bitajyanye.

Dore bimwe muri ibi bintu:

Ububabare bw'imitsi

Ubu bubabare bushobora kugaragara ahantu hatandukanye mu mubiri:

• Ububabare bukomeye mu nda - Iki ni cyo kimenyetso cya mbere kigaragara ku bantu benshi.
• Kubabara mu gatuza
• Kubabara umugongo
• Ububabare mu biganza no mu birenge

Ibibazo by'igogora

Kubera ko imitsi ifatwa n’ingaruka, ibibazo bijyanye n’igogora nabyo bishobora kubaho:

• Isesemi no kuruka
• Kudakora neza kw'igogora
• Impatwe
• Impiswi

Ibimenyetso by'imitsi yo hagati

Ibi bifitanye isano itaziguye n'ubwonko n'ubwenge:

• Guhangayika
• Gusinzira nabi
• Ihungabana
• Delirium
• Kubona ibintu bitagaragara – kubona cyangwa kumva ibintu bitariho mu by'ukuri
• Indwara y'igicuri/icyorezo (`Indwara`)

Ibimenyetso by'imitsi yo mu mpande

Ibi bifitanye isano n'imitsi yo mu bindi bice by'umubiri:

• Intege nke z'imitsi
• Gucika intege no gucika intege mu maguru
• Umunaniro
• Gutakaza ubushobozi bwo kumva
• Gupfa kw'imitsi
• Guhumeka nabi - Ibi ni bibi cyane kandi bishobora gutera kugorwa no guhumeka.

Ibimenyetso by'imikorere y'ubwonko ikora ku buryo butunguranye

Ibi ni ibintu bibaho mu buryo butunguranye, ibintu tudashobora kugenzura:

• Umutima utera cyane
• Umuvuduko ukabije w'amaraso

Ibimenyetso by'uruhu (cyane cyane muri 'Variegate Porphyria' na 'Heroditary Coproporphyria')

Abantu bafite ubu bwoko bubiri bashobora kugira ibibazo by'uruhu iyo bahuye n'izuba :

• Guhangana n'izuba
• Uduheri duto cyane
• Guhindura ibara ry'uruhu (Guhindura ibara ry'uruhu)
• Inkovu

Igikuru ni uko iyo ufite porphyria, inkari zawe zishobora guhindura ibara . Iyo izo ntangabuzima za porphyrine navuze zirundanyije mu mubiri wawe zikava mu nkari zawe, inkari zawe zishobora guhinduka ibara ry'umutuku n'umuhengeri . Ijambo "porphyria" rikomoka ku ijambo ry'Ikigiriki "porphura," risobanura "umuhengeri." Porphyrine ziri mu turemangingo tw'amaraso dutukura nizo ziha amaraso ibara ry'umutuku.

Igitero cya AHP ni iki?

Ku bantu benshi bafite ibimenyetso bya AHP, ibi biza mu buryo bwa "ibitero" rimwe na rimwe. Hari abantu babibona kenshi, abandi gake cyane. Hari abantu babibona cyane, abandi ntibabibone. Ubusanzwe, ibi bitero bimara iminsi mike, hanyuma bikiyongera buhoro buhoro bikagabanuka. Niba ufite ibimenyetso bikomeye kandi biteye ubwoba, ugomba kujya kwa muganga. Nkuko nabivuze, ibintu nk'indwara yo mu myanya y'ubuhumekero, ituma guhumeka bigorana, ni indwara zisaba ubuvuzi bwihutirwa.

Ikimenyetso gikunze kugaragara cy’igitero cya AHP ni ububabare bukabije bw’igifu budasobanutse.. Abantu barenga 90% bafite AHP bajya kwa muganga kubera ubu bubabare bwo mu nda. Ariko, kubera ko hari impamvu nyinshi zitera ububabare bwo mu nda, kandi kubera ko X-ray cyangwa CT scan bitabasha kubona impamvu y'ubu bubabare (kuko ari ububabare bw'imitsi), biragoye cyane kubisuzuma. Kubera ko ubu bubabare bwo mu nda bujyana n'ibintu nko kugira isesemi, kuruka, no kuribwa mu nda, abaganga bashobora gutekereza ko ari indwara y'igifu. Niba ufite kandi ibibazo byo mu mutwe no mu buryo bw'ibyumviro, bashobora no gutekereza ko ari indwara y'imitsi. Iyo ibi bimenyetso bisa nkaho bidafite aho bihuriye, ni ngombwa kureba umuganga ubizi kugira ngo amenye ko ishobora kuba ari porphyria.

Ni ibihe bimenyetso bidakira AHP ishobora gutera?

Abantu bafite indwara zoroheje (kubura enzyme nke) ntibakunze kugira ibimenyetso bidakira. Bashobora kugira ibitero bimwe cyangwa bibiri gusa mu buzima bwabo. Iyo bamenye impamvu zibitera, bashobora kubyirinda. Ariko, hari abantu bagira ibitero kenshi, kandi bimwe mu bimenyetso ni kenshi ku buryo bishobora gufatwa nk'ibidakira. Ibimenyetso nk'ibi birimo:

• Ububabare
• Umunaniro
• Isesemi
• Uburwayi bw'imitsi ( kubura ibinure, ububabare, cyangwa intege nke mu maguru)

Ni izihe ngorane za AHP?

Ibimenyetso bifitanye isano n'imitsi yo hagati (nk'imihangayiko, kubona ibintu nk'ibintu bitagaragara, no gucika intege) bikunze kubaho gusa mu gihe cy'igitero. Ariko, ibimenyetso bifitanye isano n'imitsi yo mu gice cy'imbere (nk'intege nke z'imitsi no gucika intege) bishobora kubaho kenshi, kandi kwangirika burundu bishobora kubaho nyuma y'igitero gikomeye. Kwiyongera kw'ibi bintu bibanziriza porphyrin bishobora no kwangiza ingingo zimwe na zimwe mu gihe kirekire. Ibi bishobora kuba birimo:

• Umuvuduko ukabije w'amaraso ukabije (hypertension)
• Indwara y'umwijima idakira
• Indwara y'impyiko idakira
• Kanseri y'umwijima y'ibanze
• Ihungabana n'imihangayiko

Ni iki gitera AHP?

Impamvu nyamukuru itera AHP ni impinduka mu miterere y’uturemangingo . Ariko nkuko nabivuze mbere, ibimenyetso ntibigaragara ako kanya nyuma yuko impinduka mu miterere y’uturemangingo igaragaye. Kenshi na kenshi, ibimenyetso bitangira kugaragara mu gihe cy’ubugimbi, hamwe n’impinduka mu misemburo. Byongeye kandi, imiti imwe n’imwe, ibiyobyabwenge, kunywa inzoga nyinshi, kugabanya cyane karori, n’indwara zitera stress nyinshi ku mubiri nabyo bishobora kuyitera.

Icyo ibi byose bihuriyeho ni uko bitera imbaraga mu gukora heme mu mwijima. Ariko, mu mwijima w'umuntu urwaye AHP, umusaruro wa heme (nk'ibibanza bya porphyrin) ntuba utunganyijwe neza, ni ukuvuga ko ukoreshwa burundu. Kubwibyo, ibi bibanza bya porphyrin bisigaye byirundanya mu mwijima. Iyo ibi byirundanyije ku rwego runaka niho bitangira kugira ingaruka ku mikorere y'ubwonko bigatera ibimenyetso.

AHP ipimwa ite? (Isuzuma)

Ku bafite AHPKubona isuzuma nyaryo bishobora kugorana, kuko ibimenyetso ntabwo ari byo byonyine kuri iyi ndwara kandi bishobora gusa n'aho bitajyanye. Ariko, umuganga uzi neza AHP ashobora gukeka AHP niba ufite ububabare bwo mu nda hamwe n'ibimenyetso by'imitsi yo hagati n'iyo mu gice cyo hagati. Uruvange rw'ibi bimenyetso bitatu rufatwa nk'"itsinda ritatu rya AHP".

Iyo umuganga akeka ko afite AHP, ashobora gukora ibizamini byinshi kugira ngo yemeze ko ari yo.

• Ikizamini cy'inkari: Ibi bishobora gukorwa vuba mu gihe cyo kurwara. Inkari zishobora kuba zisanzwe iyo utari kurwara, ariko mu gihe cyo kurwara, inkari zigaragaza urugero rwinshi rwa porphyrin precursors (PBG na ALA). Iki si ikizamini gikorerwa AHP gusa, ahubwo ni ikizamini cy'ibanze gishobora gufasha abaganga kukwereka inzira ikwiye.
• Gupima imiterere y'uturemangingo: Ubu ni bwo buryo bwiza kandi buhamye bwo gusuzuma AHP (`igipimo cya zahabu`) . Waba ufite ibimenyetso cyangwa udafite, bishobora kwemeza niba ufite ihinduka ry'uturemangingo rifitanye isano na AHP. Bishobora kandi kukubwira ubwoko bwa AHP ufite n'uburemere bw'ibura rya enzyme. Ibi bisaba gufata icyitegererezo cy'amaraso cyangwa amacandwe. Ibitaro byo hafi yawe na byo bishobora gukenera kohereza icyitegererezo muri laboratwari yihariye.

AHP ivurwa ite?

Ubuvuzi bwa AHP bwibanda ku gukumira no kugenzura ibitero . Ushobora gukenera kujya mu bitaro mu gihe cy'igitero. Ushobora gukenera ubwoko butandukanye bw'imiti kugira ngo ugabanye ibimenyetso byawe. Mu gihe udafite ibitero, ushobora gukenera indi miti kugira ngo ugabanye ibintu bituma ibimenyetso byawe birushaho kwiyongera. Niba wowe na muganga wawe mukorana kugira ngo mumenye ibintu bikugiraho ingaruka cyane, ubuvuzi bwawe buzagira akamaro kanini.

Uburyo bwo kuvura igitero gikomeye:

• Guterwa Hemin: Mu gihe habayeho igitero gikomeye, muganga ashobora kuguha urushinge rwa hemin mu mitsi. Ibi bifasha kugabanya ingano ya porphyrin mu maraso yawe. Hemin ni ikintu gifatwa mu turemangingo dutukura tw'amaraso kandi kikagabanya ingano ya porphyrin mu mubiri wawe.
• Kugabanya ububabare: Mu gihe cy'igitero gikomeye, imiti igabanya ububabare ikomeye nka opioids ishobora gukenerwa.
• Phenothiazines: Iyi ikoreshwa mu kugabanya isesemi ikabije no kuruka.
• Ibinyobwa byo mu maraso n'imirire: Ibimenyetso nko kubabara mu gifu, isesemi, kuruka, impiswi, no kuribwa mu nda bishobora gutuma umubiri utakaza karori n'amazi mu gihe cy'igitero. AHP ishobora kandi gutuma umuntu atakaza ibintu nka sodium na manyeziyumu. Kubwibyo, ibinyobwa birimo karubohidrati na electrolytes bishobora gutangwa mu mitsi.
• Imiti yo gufata icyorezo:Abarwayi bagera kuri 20% bashobora gukenera kuvurwa indwara y'igicuri mu gihe cy'igitero.

Uburyo bwo kuvurwa mu gihe kirekire:

• Hemin yo kwirinda: Guha abantu bakunze kurwara indwara ya hemin dose nkeya rimwe mu cyumweru bishobora gukumira kwirundanya kwa porphyrines.
• Givosiran (GIVLAARI®): Ubu ni ubwoko bw'ubuvuzi bw'uturemangingo . Bugabanya ikorwa rya porphyrin mbere y'uturemangingo. Ubu bwemewe nk'urushinge rwa buri kwezi kugira ngo hirindwe ibimenyetso bya AHP ku bantu bakunze kurwara indwara.
• Uburyo bwo kuvura imisemburo: Niba ibitero byawe bya AHP biterwa n'ukwezi kwawe, muganga wawe ashobora kukwandikira imiti nka GnRH (Gonadotropin-releasing hormone). Iyi miti igabanya imisemburo ya estrogen na progesterone mu mubiri.
• Imiti y'umuvuduko ukabije w'amaraso: Iyo umuvuduko ukabije w'amaraso ugaragaye, bizakenerwa kugenzurwa n'imiti yihariye.
• Gutera umwijima: Abantu bakunze kugira ibitero bishobora gushyira ubuzima mu kaga kandi batakiriye ubundi buryo bwo kuvura bashobora gutekereza gutera umwijima. Ibi bishobora no gukiza indwara burundu.

Ese AHP ishobora kwirindwa?

Ntibishoboka gukumira iyi ndwara. Ariko, ushobora gufasha gukumira ibimenyetso by’iyi ndwara wirinda impamvu zitera iyi ndwara . Niba utigeze ugira ikibazo, ni byiza kwirinda impamvu zose zishoboka. Niba warigeze kugira ikibazo kandi ukaba waramenye impamvu zabiteye, bishobora kuba bihagije kwirinda gusa izo mpamvu zihariye.

Dore bimwe mu bintu bikunze kugaragara:

Ubwoko bw'imiti:

• Antihistamines (imiti imwe n'imwe ivura ibicurane n'allergies)
• Imiti igabanya ububabare
• Imiti yo kuboneza urubyaro inyobwa
• Uburyo bwo kuvura imisemburo

Ikoreshwa ry'ibikoresho:

• Itabi (`Itabi`)
• Urumogi
• Inzoga
• Ibiyobyabwenge byo kwidagadura

Umuhangayiko:

• Indwara zandurira mu mubiri
• Kubaga
• Kurya karori nke (cyane cyane karubohidrati nke) (`Kubura karori`)
• Imihangayiko yo mu mutwe

Ejo hazaza ku bantu bafite AHP ni he? (Ibisobanuro)

Ibi biratandukanye cyane bitewe n'umuntu ku giti cye. Abantu benshi ntibigera bagaragaza ibimenyetso . Mu babibona, abantu benshi bagira ibitero bimwe cyangwa bike mu buzima bwabo. Nubwo ibitero bishobora gushyira ubuzima mu kaga, abantu benshi bakira neza iyo abaganga bavuwe vuba . Hafi 5% by'abantu barwaye AHP bagira ibimenyetso bikunze kubaho cyangwa bidakira. Kuri aba bantu, imiti yo kwirinda ikunze kuba ingirakamaro, kandi gutera umwijima bishobora gufatwa nk'uburyo bwa nyuma.

Nitwara nte mu gihe mbana na AHP?

• Irinde ibintu bikunze gutera indwara. Inzoga, kunywa itabi n'ibiyobyabwenge bigomba kuba ku isonga mu bintu ugomba kwirinda. Ushobora kandi kuvugana na muganga wawe ku byerekeye ubundi buryo bwo gukoresha imiti ufata aho gufata imwe mu yindi.
• Kurya indyo yuzuye kandi yuzuye. Irinde indyo ikabije no kurya ibiryo birimo karubohidrati nke. Niba wiyirije ubusa mbere yo kwipimisha cyangwa kubagwa, ganira na muganga wawe kuri ibyo.
• Jya kwisuzumisha kwa muganga buri gihe. Nubwo nta bimenyetso ufite, muganga wawe azagusuzumisha umwijima wawe, impyiko n'umuvuduko w'amaraso buri gihe.

Porphyria y'umwijima ikabije ni indwara idakunze kugaragara, bityo abaturage muri rusange ntibayimenya neza. Iyo igitero kibaye gitunguranye gifite ibimenyetso bikomeye, birabatera urujijo kandi biteye ubwoba. Hari abantu bamara imyaka myinshi bagerageza kumenya ikibazo cyabo n'icyo bashobora gukora. Niba ukeka ko ufite AHP, ikizamini cya genetiki gishobora kubyemeza. Umaze kubimenya, bizagufasha cyane gukumira ibitero no kubigenzura.

Ibintu by'ingenzi ugomba kumenya (Ubutumwa bwo kujyana mu rugo)

Sawa, reka nguhe muri make bimwe mu bintu ugomba kwibuka mu byo twaganiriyeho:

• AHP ni indwara idakunze kugaragara mu buryo bw'uturemangingo itangirira mu mwijima ikagera ku mitsi .
• Ibi biterwa n'ibura ry'imisemburo ikenewe mu gukora heme , ituma ibintu by'uburozi byitwa porphyrin precursors byirundanya mu mubiri.
• Ibimenyetso bishobora gutandukana, kuva ku kubabara igifu gukomeye, kubabara imitsi, ibibazo byo mu mutwe, ibibazo by'uruhu, ndetse no guhinduka kw'ibara ry'inkari zawe.
• Nubwo iyo imiterere y’uturemangingo yaba ihari, ibimenyetso ntibikunze kugaragara nta mpamvu zibitera ( nk'imisemburo, imiti imwe n'imwe, inzoga, na stress).
• Ibipimo by'inkari n'ibipimo by'uturemangingo ni ingenzi mu gusuzuma indwara.
• Ikintu cy'ingenzi ni ukugenzura no gukumira ibitero binyuze mu kuvura. Urukingo rwa `Hemin`, imiti igabanya ububabare, n'imiti imwe n'imwe yihariye irakoreshwa. Mu bihe bikomeye cyane, gutera umwijima na byo ni igisubizo.
• Ushobora kubaho neza urwaye iyi ndwara wirinda ibintu biyitera, ukagira ubuzima bwiza, kandi ukisuzumisha kwa muganga buri gihe .

Ndizera ko aya makuru azagufasha. Wibuke ko niba ufite kimwe muri ibi bimenyetso, ntugatinye kujya kwa muganga ukaganira kuri byo.

Porphyria y'umwijima ikabije, AHP, umwijima, uturemangingo tw'imitsi, indwara z'uturemangingo, porphyrines, ibimenyetso , uburyo bwo kuvura