Ese umwana wawe afite PKU (Phenylketonuria)? Ntugahangayike, reka tubimenye mu buryo bworoshye!

Ibyishimo ugira iyo urebye umwana wawe uvutse ntabwo ari byo, sibyo? Ariko noneho, iyo wumvise bimwe mu bipimo bikorerwa mu bitaro nyuma y'uko umwana avutse, wumva ufite ubwoba kandi ufite amatsiko. Kimwe muri ibyo bipimo ni ikizamini cya PKU. Ushobora kuba utarabyumvise. Ariko iki ni ikizamini cy'ingenzi cyane. Uyu munsi turimo kuvuga kuri iyi ndwara idasanzwe yitwa PKU, ariko iyo igaragaye hakiri kare, ishobora kugenzurwa burundu kandi umwana akabaho ubuzima bwiza.

Mu magambo make, PKU (Phenylketonuria) ni iki?

PKU, cyangwa Phenylketonuria, ni indwara idakunze kugaragara mu buryo bw'uturemangingo . Ivuka ku babyeyi. Umwana ufite iyi ndwara ntashobora gusya neza, cyangwa ngo avungure aside amine phenylalanine, iboneka mu biribwa bya poroteyine turya.

Tekereza ku mibiri yacu nk'uruganda runini. Ibiryo turya ni ibikoresho fatizo tubishyiramo. Ibi bikoresho fatizo bikoreshwa n'abakozi bato bitwa enzymes kugira ngo bakore ibintu umubiri wacu ukeneye. Umwana ufite PKU nta musaruro uhagije cyangwa nta na muke w'umusemburo wihariye witwa phenylalanine hydroxylase (PAH), utuma phenylalanine ivunguka.

None se bigenda bite? Phenylalanine, iboneka mu mashereka hanyuma ikaboneka mu biribwa umwana arya, itangira kwirundanya mu maraso aho gukurwa mu mubiri. Iyo ingano ya phenylalanine yiyongera muri ubu buryo, iba uburozi ku bwonko bw'umwana . Iyo itavuwe, ibi bishobora kwangiza ubwonko no guteza ingorane zikomeye nko kuba ubumuga bwo mu mutwe no gutinda gukura.

Ni ibihe bimenyetso bya PKU?

Umwana ufite PKU asa n'ufite ubuzima bwiza mu gihe cyo kuvuka. Rero, mu ntangiriro, nta mpinduka zigaragara zishobora kubaho. Iyo itavuwe, ibimenyetso bizatangira kugaragara hagati y'amezi atatu n'atandatu. Muri iki gihe, ushobora kubona gutinda gato mu mikurire y'umwana wawe.

Mu gihe umwana agize umwaka umwe, iyo atavuwe, ibimenyetso bikurikira bishobora kugaragara.

Gutwita bigira izihe ngaruka ku mubyeyi urwaye PKU?

Iki ni ikintu cy'ingenzi cyane. Iyo umugore urwaye PKU atwite kandi indwara ye ya PKU itaragenzurwa muri icyo gihe, bishobora kugira ingaruka ku mwana uri mu nda. Ubwiyongere bwa phenylalanine mu maraso ya nyina bushobora kwangiza umwana.

Ibi byongera ibyago byo gukuramo inda ndetse bishobora no guteza ingorane zitandukanye ku mwana uri mu nda.

• Indwara y'umutima yavukanye
• Impinduka zimwe na zimwe mu miterere y'isura
• Kubyara umwana ufite ibiro bike
• Umutwe muto (microcephaly)

Kuki indwara ya PKU ikwirakwira? Ni iyihe mpamvu?

Nkuko twabiganiriyeho mbere, PKU ni indwara iterwa n’uturemangingo. Iterwa n’impinduka muri gene yitwa `PAH` mu mubiri wacu. Iyi gene ya `PAH` itegeka umubiri wacu gukora enzyme isenya fenilalanine. Iyo habayeho impinduka muri gene, iyo enzyme ntikorwa, cyangwa hakagira inenge mu ikorwa ryayo.

Iyi ndwara iragwa mu buryo bwa autosomal recessive pattern. Muri make, igenda itya:

Kugira ngo umwana agire iyi ndwara, agomba guhabwa kopi imwe ya gene yahinduwe ivuye kuri nyina na se . Iyo abonye gene ivuye ku mubyeyi umwe gusa, umwana ntazarwara iyi ndwara. Ariko, uwo mubyeyi ashobora kuba ari we uyimufite. Ibi bivuze ko ashobora kutagira ibimenyetso, ariko ashobora no kuyiha abana be mu gihe kizaza.

Ni gute abaganga bapima indwara ya PKU?

Kumenya PKU byoroshye cyane ubu bitewe no gupima abana bavutse.

Hagati y'amasaha 24 na 72 umwana wawe amaze kuvuka, umuganga cyangwa umuforomo wo kwa muganga azafata urushinge ruto ku gatsinsino k'umwana wawe maze agafata ibitonyanga bike by'amaraso ku ikarita yihariye. Ibi byitwa 'ikizamini cyo gupima agatsinsino.' Iki gipimo cy'amaraso gikoreshwa mu gusuzuma urugero rwa phenylalanine mu maraso y'umwana wawe.

Iyo urugero rwa phenylalanine mu maraso ruri hejuru, hakorwa ibindi bipimo by'amaraso n'inkari kugira ngo byemezwe ko ari indwara. Hari igihe ikizamini cy'uturemangingo gishobora gukorwa kugira ngo hamenyekane impinduka zihariye mu turemangingo zitera iyo ndwara.

Ni ubuhe buryo bwo kuvura PKU?

Nta muti uhari wa PKU. Ariko, iyi ndwara ishobora gukemurwa neza mu buzima bwose . Ibimenyetso bishobora kugaruka iyo imiti ihagaritswe. Uburyo bw'ingenzi bwo kuyivura ni indyo yihariye ndetse rimwe na rimwe n'imiti.

1. Indyo yihariye irimo fenilalanine nkeya

Iki ni cyo gice cy'ingenzi kandi cy'ingenzi mu micungire ya PKU.Umuntu urwaye PKU agomba gukurikiza indyo nkeya irimo fenilalanine mu buzima bwe bwose.

Kubera ko phenylalanine ari igice cya poroteyine, ibiryo bikungahaye kuri poroteyine bigomba kugabanywa .

• Inyama, amafi, inkoko
• Amagi
• Amata n'ibikomoka ku mata (yawurute, foromaje)
• Ibinyampeke nk'amashu n'ibishyimbo
• Ibikomoka kuri soya
• Imbuto

Ariko, kubera ko umubiri ukeneye ingano runaka ya poroteyine kugira ngo ukure, ugomba kuvugana n'inzobere mu mirire kugira ngo amenye ingano ya poroteyine ushobora kurya. Bazashyiraho gahunda y'ifunguro rifite intungamubiri rikwiriye umwana/umuntu ufite PKU.

Abana bavutse bafite PKU bagomba gutangizwa ku muti wihariye utarimo phenylalanine ako kanya.

2. Imiti

Ku barwayi bamwe na bamwe ba PKU, imiti ishobora kuba ingirakamaro uretse indyo. Iyi miti igomba gukoreshwa gusa iyo muganga abibasabye.

• Sapropterin dihydrochloride (Kuvan®): Uyu muti ufasha abarwayi bamwe gusenya phenylalanine mu mubiri. Ariko, ugomba gukomeza gukurikiza indyo mu gihe ufata uyu muti.
• Pegvaliase (Palynziq®): Uru ni urukingo rusabwa abarwayi bakuru. Ruha umubiri enzyme isenya fenilalanine.

Ese birashoboka kubaho ubuzima busanzwe ufite PKU?

Yego, ni byo rwose! Nubwo PKU ari indwara ibaho ubuzima bwose, iyo igaragaye hakiri kare kandi igafatwa neza, ingaruka zayo ku buzima zishobora kugabanuka.

Gukurikiza indyo irimo poroteyine nke mu buzima bwawe bwose rimwe na rimwe bishobora kugorana. Ariko ntabwo uri wenyine. Muganga wawe n'inzobere mu mirire bahora bahari kugira ngo bagufashe. Nanone, kwiyandikisha mu matsinda y'ubufasha hamwe n'abandi bantu bafite PKU bishobora kugufasha gusangira ubunararibonye no kugira imbaraga.

Ushobora kuba warabonye amacupa y'ibinyobwa byo mu rwego rwo "kurya" n'udupaki tw'ibinyobwa byo mu bwoko bwa chewing gum birimo umuburo ugira uti "Phenylketonurics: Irimo phenylalanine." Ibi ni ukumenyesha abantu barwaye PKU ko ibi binyobwa birimo aspartame, irimo phenylalanine.

Niba wowe cyangwa umuryango wawe mufite stress ku bijyanye n'indwara ya PKU yawe, ntugatinye kuvugana n'umujyanama mu by'ubuzima bwo mu mutwe . Ubuzima bwo mu mutwe ni ingenzi kimwe n'ubuzima bw'umubiri.