Ese uzi indwara idakunze kugaragara mu ngirabuzimafatizo yitwa Homocystinuria (HCU)? Reka tubiganireho!

Uyu munsi tugiye kuvuga ku ndwara tutarigeze twumva mbere, ariko ni ingenzi cyane ko buri wese ayimenya. Iyi ndwara yitwa Homocystinuria, cyangwa `(HCU)` mu magambo ahinnye. Hari igihe, iyo hari uburyo bumwe na bumwe bw’imiti bubera mu mubiri wacu butagenze neza, hashobora kuvuka ibibazo bitunguranye. Iyi ni imwe muri izo ndwara yitwa `(HCU)`. Ntutinye, reka tubiganireho mu buryo bworoshye.

Homocystinuria (HCU) ni iki?

Mu magambo make, `(HCU)` ni indwara idakunze kugaragara mu buryo bw'uturemangingo . Ikibaho muri ibi ni uko umubiri wacu udashobora kugenzura neza aside amine `(Homocysteine)`, ni ukuvuga ko udashobora kuyikoresha no kuyikuraho. Tekereza, bigenda bite iyo ibintu bidafite umumaro byirundanyije mu mubiri wacu? Nk'uko bimeze, iyi `(Homocysteine)` yirundanyije mu maraso no mu nkari bitari ngombwa. Uku kwirundanya gushobora gutera ingorane zikomeye mu maso, mu gice cy'amagufwa (amagufwa yacu), mu gice cy'imitsi yo hagati (ubwonko n'umugongo), no mu gice cy'imitsi (imitsi y'amaraso). Noneho ufite ikibazo , izi aside amine ni izihe? Aside amine ni inkingi z'ibanze za poroteyine. Nk'uko amatafari akenewe kugira ngo hubakwe inyubako, aside amine zirakenewe kugira ngo hubakwe poroteyine mu mubiri wacu. Umubiri wacu ukora igice cya `(Homocysteine)` uvuye mu yindi aside amine yitwa `(Methionine)`. Nanone, mu biribwa birimo poroteyine nyinshi turya, urugero nk'inyama, amafi, n'amagi, tubona `(Methionine)` nyinshi. Ubusanzwe, umubiri wacu uca iyi `(Methionine)` uyihindura `(Homocysteine)`. Ariko, mu mubiri w'umuntu ufite `(Homocystinuria), enzyme ikenewe kugira ngo igenzure neza iyi `(Homocysteine)`, ni ukuvuga kuyigumana ku rugero rusabwa no guhindura ibisigaye, irabura, cyangwa ntikore neza. enzyme ni ubwoko bwa poroteyine yihutisha ibikorwa bya shimi mu mubiri wacu. Rero iyo iyi enzyme ibuze, urugero rwa `(Homocysteine)` ruriyongera.

Ni ubuhe bwoko bw'ingenzi bwa homocystinuria?

Abashakashatsi bagabanyije homocystinuria mu moko menshi hashingiwe ku mpamvu zishingiye ku ngirabuzimafatizo. Hari ubwoko bubiri bw'ingenzi:

1. Kubura kwa Cystathionine beta-synthase (CBS) (Classical Homocystinuria)

Ubu ni bwo bwoko bwa homocystinuria bukunze kugaragara cyane . Cystathionine beta-synthase (CBS) ni enzyme ifasha guhindura homocysteine ​​​​mu yindi aside amine yitwa cysteine. Ubu bwoko bw'indwara bubaho iyo gene ya CBS ikora enzyme nkeya cyane cyangwa ntayo ikora, cyangwa iyo enzyme ya CBS idakora neza. enzyme ya CBS ikenera vitamine B6, izwi kandi nka pyridoxine, kugira ngo ikore neza. Ubu bwoko burushaho kugabanywa bitewe n'uburyo witabira inyongera za vitamine B6.

2. Ikibazo cy’imikorere mibi ya Cobalamin (cbl)

Umubiri wacu ugomba guhindura imwe muri homocysteine ​​​​ikaba methionine. Iyi gahunda ikubiyemo vitamine B12, izwi kandi nka cobalamin. Umubiri wacu unyura mu ntambwe zitandukanye kugira ngo uhindure homocysteine ​​​​ikaba methionine. Homocystinuria, iterwa no kubura kwa cobalamin, ibaho iyo umubiri udashobora kurangiza iyi ntambwe, udakora enzyme ikwiye, cyangwa ngo utange enzymes zifite inenge.

Ni irihe tandukaniro riri hagati ya homocystinuria na Marfan syndrome?

Marfan syndrome ni indwara idakunze kugaragara mu buryo bw'uturemangingo ifata ingingo zihuza umubiri wose. Ibimenyetso byinshi by'iyi ndwara bisa n'ibya homocystinuria. Urugero, amaguru maremare, intoki ndende, zoroshye, ectopia lentis, na myopia. Ariko, Marfan syndrome iterwa n'impinduka mu ngirabuzimafatizo ya Fibrillin-1 (FBN1). Abantu bafite Marfan syndrome bafite urugero rusanzwe rwa homocysteine ​​​​na methionine.

Ni nde wibasirwa cyane n'iki kibazo? Ni iki gikunze kugaragara?

Homocystinuria iterwa n'impinduka mu ngirabuzimafatizo. Bityo rero, umuntu wese ashobora kuyirwara. Ariko, hari ubushakashatsi bwagaragaje ko iyi ndwara igira ingaruka ku bantu bo mu bihugu bimwe kurusha ibindi. Ibi bihugu ni ibi bikurikira:

• Irilande
• Noruveje
• Ubudage
• Katari

Homocystinuria ni indwara idakunze kugaragara cyane mu ngirabuzimafatizo . Ubwoko bw'iyi ndwara bukunze kwibasira umuntu umwe ku bantu 200.000 n'undi mu bantu 335.000 ku isi yose. Ibyo ni gake cyane.

Ni ibihe bimenyetso bya homocystinuria?

Ibimenyetso bya `(Homocystinuria)` biratandukanye bitewe n'ubwoko bw'indwara ufite. Akenshi bitangira kugaragara mu myaka mike ya mbere y'ubuzima. Ariko, hari abantu bashobora kutagira ibimenyetso kugeza bakuze. Ubwoko bwa `(Homocystinuria)` bukunze kwibasira iyi ndwara:

• Amaso
• Imiterere y'amagufwa
• Uturemangingo tw'imitsi yo hagati
• Uturemangingo tw'imitsi

Ibimenyetso bya `(Homocystinuria)` bishobora kuba birimo:

Ibimenyetso bigira ingaruka ku maso:

• Ijisho riva mu mwanya waryo usanzwe (ectopia lentis). Ibi bishobora gutera ubumuga bwo kutabona neza .
• Kutabona neza cyane (myopia), bivuze kutabasha kureba kure.

Ibimenyetso bigira ingaruka ku mitsi y'amagufwa:

• Kugaragaza gukura cyane .
• Kurambara kudasanzwe kw'amaboko, amaguru n'intoki.
• Amavi arapfukama imbere kandi amavi arakubitana iyo amaguru agororotse (ibi kandi byitwa "knock knees").
• Igituza kiba cyarashongeshejwe cyangwa cyarazamutse imbere.
• Kugorama k'umugongo (scoliosis).
• Abantu bafite homocystinuria nabo bashobora kurwara osteoporosis .

Ibimenyetso bigira ingaruka ku mitsi yo hagati:

• Gutinda mu mikurire . Ibi bivuze ko umuntu atagaragaza iterambere ry’ubwenge cyangwa iry’umubiri rijyanye n’imyaka ye.
• Ingorane zo kwiga.

Ibimenyetso bigira ingaruka ku mitsi n'imitsi:

• Ukwiyongera k'ibyago byo kuvura amaraso. Ibi bice by'amaraso bishobora gutera indwara zikomeye nko gucika imitsi cyangwa indwara yo mu bihaha .

Ni izihe mpamvu zitera homocystinuria?

Ubwoko bwinshi bwa homocystinuria buterwa n'impinduka mu ngirabuzimafatizo, cyangwa impinduka mu ngirabuzimafatizo zitandukanye.

Impamvu z'uturemangingo

Ubwoko bukunze kugaragara bwa `(Homocystinuria)` buterwa n'impinduka muri gene ya `(CBS)`. Iyi gene ya `(CBS)` ibwira umubiri wacu uburyo bwo gukora enzyme yitwa `(Cystathionine beta-synthase)`. Iyi enzyme niyo ishinzwe inzira y'ibinyabutabire ihindura aside ya `(Homocysteine)` muri `(Methionine)`. `(Homocystinuria)` ishobora kandi guterwa n'impinduka muri gene ya `(MTHFR)`, `(MTR)`, `(MTRR)` na `(MMADHC)`. Izi gene zose zishinzwe guhindura aside ya `(Homocysteine)` muri `(Methionine). Iyo hari imwe muri izi gene ifite impinduka, enzyme ijyanye nayo ntikora neza. Hanyuma `(Homocysteine)` itangira kwirundanya mu mubiri. Ariko, abashakashatsi ntibaramenya neza impamvu urugero rwinshi rwa homocysteine ​​​​rutera ibimenyetso bya homocystinuria. Uragwa homocystinuria mu buryo bwa autosomal recessive. Ibi bivuze ko uzahabwa iyi ndwara gusa ari uko ababyeyi bawe bombi bakuze, basanzwe badafite ibimenyetso, baguhaye ingirabuzimafatizo zanduye.

Ese homocystinuria ishobora guterwa no kubura vitamine?

Yego, homocystinuria ishobora no guterwa n’impamvu zitari iza genetiki. Iyi ndwara ishobora no guterwa no kubura vitamine B6, vitamine B9 (folate), cyangwa vitamine B12 (cobalamin).

Ni gute Homocystinuria ipimwa?

Mu bihugu nka Leta Zunze Ubumwe za Amerika, ibizamini byo gupima abana bavutse bikoreshwa mu gusuzuma indwara zitandukanye ziterwa n’imikorere y’umubiri, harimo na homocystinuria. Ikizamini cya homocysteine ​​​​gipima urugero rwa homocysteine ​​​​na methionine mu maraso y’umwana wawe. Niba ibisubizo by’ibizamini ari byiza, bigaragaza ko indwara ishobora kuba ihari, muganga w’umwana wawe azategeka ibindi bipimo kugira ngo yemeze ibisubizo. Ariko, ibi bizamini by’abana bavutse si ko buri gihe biba ari ukuri 100%. Hari igihe bishobora kutabasha kubona indwara zimwe na zimwe. Kubwibyo, hari abantu bafatwa na homocystinuria nyuma yuko ibimenyetso bigaragaye. Nubwo ibimenyetso byinshi bigaragara mu bwana cyangwa mu bwana, rimwe na rimwe bishobora kugaragara mu bwana. Niba ufite ibimenyetso bya `(Homocystinuria)`, muganga wawe azategeka `(Homocysteine ​​​​​​ikizamini)` kugira ngo yemeze iyo ndwara. Niba ibisubizo bigaragaza ko ufite `(classical homocystinuria)` (ni ukuvuga `(CBS)` ibura), muganga wawe azategeka ikindi kizamini kugira ngo amenye ubwoko bw’indwara ufite. Ibi byitwa `(vitamine B6 challenge)` . Iki kizamini kirasuzuma uburyo wakira inyongera za vitamine B6. Hanyuma muganga wawe ashobora kuguha gahunda ikwiye yo kugufasha. `(Classical homocystinuria)` ishobora gushyirwa mu byiciro bikurikira:

• Ifasha mu gusubiza Vitamine B6: Umubiri wawe ukora enzyme ``(CBS)`` ihagije, bityo vitamine B6 ishobora gufasha iyo enzyme gukora neza.
• Ifasha mu gusubiza Vitamine B6 ku gice kimwe: Umubiri wawe ukora ingano runaka ya enzyme ``(CBS)``, bityo Vitamine B6 ishobora gufasha igice kimwe.
• Vitamine B6-idakira: Umubiri wawe ntukora enzyme ``(CBS)`` ihagije, bityo Vitamine B6 ntabwo ishobora gufasha enzyme.

Gupima imiterere y’uturemangingo bishobora kugaragaza impinduka mu turemangingo dutera homocystinuria. Ariko, abaganga ntibakunze gukoresha ibi kuko ikizamini cya homocysteine ​​​​cyonyine ari cyo gishobora gusuzuma iyo ndwara.

Ni ubuhe buryo bwo kuvura homocystinuria?

Kuvura homocystinuria bikubiyemo kugenzura urugero rwa homocysteine ​​​​mu maraso yawe no gucunga ibimenyetso byawe. Ubusanzwe kuvura bikubiyemo gufata inyongeramusaruro za vitamine B6. Niba ufite ubwoko bw'inyongeramusaruro za vitamine B6 (homocystinuria ya kera), inyongeramusaruro za vitamine B6 zishobora kuba zihagije kugira ngo zigabanye kandi zigenzure urugero rwa homocysteine ​​​​rwawe. Ariko, niba ufite ubwoko bw'inyongeramusaruro zidakira cyangwa igice cyazo cya Vitamine B6 (homocystinuria ya kera), inyongeramusaruro za vitamine B6 zonyine zishobora kuba zidahagije. Ushobora gukenera ubundi buryo bwo kuvura. Ibi bishobora kuba birimo:

• Umuti `(Betaine)` (Betaine) cyangwa `(Cystadane): `(Betaine)` ufasha kugabanya urugero rwa `( Homocysteine )` mu maraso yawe.
• Indyo yihariye kuri `(Homocystinuria)`: Ugomba gukurikiza indyo igabanya ibiryo birimo poroteyine na `(Methionine)`.
• Inyongeramusaruro: Niba ufite ubundi bwoko bwa homocystinuria, ushobora no gukenera gufata inyongeramusaruro za folate ( vitamine B9 ) cyangwa cobalamin ( vitamine B12 ).

Igikuru ni uko ubu buvuzi bugomba gukomeza ubuzima bwawe bwose . Icyo gihe ni bwo ushobora kugenzura urugero rwa homocysteine ​​​​yawe, ukagabanya ingorane, kandi ukabaho ubuzima bwiza.

Ushobora kumara igihe kingana iki ufite homocystinuria?

Iyo abana benshi barwaye Homocystinuria bahuye n’iyi ndwara hakiri kare kandi bakayivurwa neza mu buzima bwabo bwose, bashobora kubaho ubuzima busanzwe kandi buzira umuze . Kubwibyo, kuyisuzuma hakiri kare no gukomeza kuyivurwa ni ingenzi cyane.

Ese homocystinuria ishobora kwirindwa?

Kubera ko ari indwara iterwa n’uturemangingo, homocystinuria ntishobora kwirindwa. Ariko, niba utwite cyangwa uteganya kubyara umwana mu gihe kizaza, ni byiza kuvugana n'umujyanama mu by’uturemangingo. Ubujyanama mu by’uturemangingo bushobora kugufasha gusobanukirwa ibyago byo kubyara umwana ufite homocystinuria. Ni ibisanzwe kumva uremerewe iyo umenye ko wowe cyangwa umwana wawe afite ikibazo cy’uturemangingo. Fata umwanya wo kwiga byose ushoboye kuri homocystinuria. Hanyuma, shaka umuganga usobanukiwe neza n’ikibazo cyawe. Gukorana n’inzobere mu by’imikorere y’umubiri bishobora kuguha ubushobozi bwo kugenzura. Ukoresheje imbaraga zawe n’amakuru n’ibikoresho, ushobora kugera ku musaruro mwiza ushoboka.

Amaherezo, ikintu cy'ingenzi cyane (Ubutumwa bwo kujyana mu rugo)

Sawa, rero ndizera ko ubu usobanukiwe neza ibyo twavuzeho (Homocystinuria). Dore ibintu by'ingenzi ugomba kwibuka:

• `(Homocystinuria)` ni iki?Indwara idakunze kugaragara, ariko ishobora kuba ikomeye mu ngirabuzimafatizo.
• Ikiba muri ibi ni uko umubiri udashobora kugenzura neza ikinyabutabire cyitwa "Homocysteine", kandi kikarunda mu mubiri.
• Ibi bishobora gutera ibibazo ku maso, ku magufwa, ku mitsi no ku mitsi y'amaraso .
• Igikuru ni ukumenya indwara hakiri kare no kuvurwa neza mu buzima bwawe bwose . Iyo ubikoze, ushobora kubaho ubuzima busanzwe.
• Vitamine B6, indyo yihariye, hamwe n'imiti imwe n'imwe ni byo bivura ibi.
• Niba ufite ibindi bibazo kuri ibi, cyangwa niba hari umuntu wo mu muryango wawe ufite ibi bimenyetso, menya neza ko wagisha inama kwa muganga.

Ntutinye, uburyo bwiza bwo guhangana n'ikibazo icyo ari cyo cyose cy'uburwayi ni ukumenya neza ibyacyo. Homocystinuria, indwara zikomoka ku ngirabuzimafatizo, homocysteine, aside amine, vitamine B6, vitamine B12, methionine