Phenylketonuria ni iki? Ibimenyetso, Intandaro, n’Ubuvuzi

Phenylketonuria, cyangwa PKU mu magambo magufi, ni indwara idasanzwe iterwa na gène aho umubiri wawe udashobora gusenya acide aminée yitwa phenylalanine uko bikwiye. Iyi acide aminée iba mu biribwa byinshi bikungahaye kuri poroteyine nka inyama, amagi, n’ibikomoka ku mata.

Iyo umuntu arwaye PKU, phenylalanine irazamuka mu maraso kandi ishobora kwangiza ubwonko niba idakurikiranwe. Inkuru nziza ni uko, hakoreshejwe isuzuma rya mbere ku bana bavutse n’uburyo bukwiye bwo kurya, abantu barwaye PKU bashobora kubaho ubuzima busanzwe kandi bwiza.

Phenylketonuria ni iki?

PKU ibaho iyo umubiri wawe ubuze cyangwa ugira make cyane enzyme yitwa phenylalanine hydroxylase. Tekereza kuri iyi enzyme nk’umukozi wihariye ufite inshingano yo guhindura phenylalanine mu yindi acide aminée yitwa tyrosine umubiri wawe ushobora gukoresha neza.

Utabonye iyi enzyme ihagije, phenylalanine irazamuka mu maraso no mu mubiri. Urwego rwinshi rwa phenylalanine rugira ingaruka mbi ku uturemangingo tw’ubwonko, cyane cyane mu buto bwa mbere n’ubwana ubwo ubwonko bugikura.

PKU igaragara ku bana bavutse bagera kuri 1 kuri 10.000 kugeza kuri 15.000 muri Leta Zunze Ubumwe za Amerika. Ibaho kuva umwana avutse kandi isaba kwitabwaho ubuzima bwose, ariko ubufasha bukwiye, ntibikwiye kugabanya ibyo ushobora kugeraho mu buzima.

Ibimenyetso bya Phenylketonuria ni ibihe?

Abana bavuka barwaye PKU ubusanzwe bagaragara nk’abameze neza igihe bavuka. Ariko kandi, ibimenyetso bishobora kugaragara mu mezi ya mbere niba iyi ndwara idakurikiranwe kandi itabonwa.

Dore ibimenyetso bya mbere bishobora kugaragara ku bana bavuka barwaye PKU idakurikiranwe:

• Ubusembwa bw’ubwonko buragaragara uko igihe gihita
• Gutinda gukura mu kwicara, gutambama, cyangwa kugenda
• Ibibazo by’imyitwarire nko kudatuza cyangwa ubugome
• Imihango cyangwa guhindagurika
• Uruhu ruvunitse cyangwa eczema
• Impumuro nk’iy’imbeba mu mihumeko, ku ruhu, cyangwa mu mpisho
• Uruhu n’umusatsi byera kubera kugabanuka kwa melanin
• Umutwe muto ugereranije n’abandi bana b’imyaka yabo

Impumuro nk’iy’imbeba ibaho kubera ko phenylalanine nyinshi ihinduka mu bindi bintu umubiri wawe uvana hanze binyuze mu mpisho n’umusemburo. Ibi bimenyetso byose birindwa iyo PKU iboneka hakiri kare kandi ikakurikiranwa neza.

Mu bindi bihe, abantu bashobora kugira ubwoko bworoshye bwa PKU budatera ibimenyetso bikomeye ariko bugasaba gukurikirana indyo. Niyo mpamvu isuzuma rya mbere ku bana bavutse ari ingenzi cyane mu kubona ubwoko bwose bw’iyi ndwara.

Ubwenge bwa Phenylketonuria ni ubuhe?

PKU si indwara imwe gusa ahubwo irimo indwara nyinshi zifitanye isano zigira ingaruka ku buryo umubiri wawe utunganya phenylalanine. Itandukaniro nyamukuru hagati y’ubwoko ni ingano y’imikorere ya enzyme isigaye mu mubiri wawe.

PKU isanzwe ni ubwoko bukomeye cyane, aho ufite make cyangwa udafite enzyme ya phenylalanine hydroxylase. Abantu barwaye PKU isanzwe bagomba gukurikiza indyo idafite phenylalanine nyinshi ubuzima bwabo bwose.

PKU yoroshye cyangwa hyperphenylalaninemia idafite PKU ibaho iyo ufite imikorere imwe ya enzyme isigaye. Ushobora gukenera guhindura indyo, ariko ubusanzwe iba idakomeye nk’iy’abafite PKU isanzwe.

Hariho kandi ubwoko buke cyane bwitwa PKU mbi cyangwa PKU idasanzwe, burimo ibibazo by’izindi enzymes zikenewe gusubiza cofactor ifasha phenylalanine hydroxylase gukora. Ubwo bwoko bugorana kuvura kandi bushobora kudakira neza guhindura indyo gusa.

Intandaro ya Phenylketonuria ni iyihe?

PKU iterwa n’impinduka (mutations) muri gène ya PAH, itanga amabwiriza yo gukora enzyme ya phenylalanine hydroxylase. Urashobora kuzaragwa iyi ndwara na ba se.

Kugira ngo ugire PKU, ugomba kuzaragwa kopi ebyiri za gène yahindutse, imwe kuri buri mubyeyi. Ibi bita kurangwa n’indwara y’umwirondoro. Niba waragwa kopi imwe yahindutse, uri umuturage ariko ntuzagira PKU.

Iyo ababyeyi bombi ari abaturage, buri gihe cyo gutwita gifite amahirwe 25% yo kubyara umwana ufite PKU, amahirwe 50% yo kubyara umwana uturage, n’amahirwe 25% yo kubyara umwana udafite impinduka. Abaturage ubusanzwe nta bimenyetso bagira kandi urwego rwa phenylalanine rwabo rurakwiye.

Impinduka zisaga 1.000 zitandukanye muri gène ya PAH zamenyekanye. Zimwe mu mpinduka zikuraho burundu imikorere ya enzyme, izindi zigabanya mu buryo butandukanye, ariyo mpamvu uburemere bwa PKU bushobora gutandukana hagati y’abantu.

Ni ryari ukwiye kubona muganga kubera Phenylketonuria?

Mu bihugu byinshi biteye imbere, abana bose bavuka bapimwa PKU mu minsi mike ya mbere y’ubuzima, bityo ubusanzwe uzamenya iyi ndwara mbere y’uko ibimenyetso bigaragara. Niba umwana wawe apimwe ko arwaye, uzoherezwa ku muguzi wa muganga ako kanya.

Ugomba kuvugana na muganga wawe ako kanya niba umwana wawe agaragaza ibimenyetso byo gutinda gukura, guhindura imyitwarire, cyangwa impumuro nk’iy’imbeba, cyane cyane niba isuzuma rya mbere ku bana bavutse ritakozwe cyangwa niba uhangayikishijwe n’ibisubizo by’isuzuma.

Abakuze barwaye PKU bagomba gukurikiranwa buri gihe ubuzima bwabo bwose. Vugana na muganga wawe niba ugira ibibazo mu gukurikiza indyo yawe, guhindura imimerere, cyangwa guhangana n’ibibazo byo kwibanda, kuko bishobora kugaragaza ko urwego rwa phenylalanine rwawe ruri hejuru.

Abagore barwaye PKU bateganya gutwita bagomba kwitabwaho cyane na muganga. Urwego rwinshi rwa phenylalanine mu gihe cyo gutwita rushobora kwangiza umwana uri mu nda, nubwo uwo mwana adafite PKU.

Ibyago bya Phenylketonuria ni ibihe?

Ibyago bya mbere bya PKU ni ukugira ababyeyi bombi bafite impinduka muri gène ya PAH. Kubera ko PKU iragwa, imiterere yawe ya gène igira uruhare runini mu kumenya ibyago byawe.

Amwe mu matsinda y’abantu afite umubare munini w’abaturage ba PKU. Iyi ndwara igaragara cyane mu bantu bakomoka i Burayi kandi igaragara gake mu bantu bakomoka muri Afurika, Amerika Latina, cyangwa Aziya, nubwo ishobora kugaragara mu matsinda y’abantu yose.

Ibintu by’aho umuntu atuye bishobora kandi kugira ingaruka ku byago. Amwe mu matsinda y’abantu yari yaracitse, nka yo muri Irlande, afite umubare munini w’abaturage kubera icyo abahanga mu bya gène bita “founder effect”.

Kugira amateka y’umuryango wa PKU cyangwa kuba ufite ubucuti n’umuntu ufite iyi ndwara byongera amahirwe yawe yo kuba umuturage. Inama y’abahanga mu bya gène ishobora kugufasha kumva ibyago byawe bwite n’amahirwe yo kubyara.

Ingaruka zishoboka za Phenylketonuria ni izihe?

Iyo PKU ikurikiranwe neza kuva umwana avuka, ingaruka nyinshi zishobora kwirindwa burundu. Ariko kandi, niba idakurikiranwe cyangwa idakurikiranwa neza, PKU ishobora gutera ibibazo bikomeye by’igihe kirekire.

Ingaruka ikomeye cyane ni ubusembwa bw’ubwonko, bushobora kuba bukomeye kandi budakira niba urwego rwinshi rwa phenylalanine rukomeza kubaho mu gihe cyo gukura kw’ubwonko. Ibi bibaho ubusanzwe iyo PKU idakurikiranwe cyangwa itabonwa mu mezi ya mbere y’ubuzima.

Dore izindi ngaruka zishoboka za PKU idakurikiranwe:

• Ibibazo by’imyitwarire n’iby’ubuzima bwo mu mutwe birimo ADHD, imihangayiko, n’agahinda
• Imihango ishobora kuba igorana kuyihagarika
• Guhindagurika n’ibindi bibazo byo kugenda
• Gutinda gukura no kugira umubiri muto ugereranije n’abandi
• Ibibazo by’uruhu birimo eczema n’ubuvumbagano
• Ibibazo by’umutima mu bihe bidafite akarusho
• Ibibazo by’amagufa n’ibyago byo kuvunika byiyongereye

Nubwo hariho uburyo bwiza bwo kurya, bamwe mu bakuze barwaye PKU bashobora kugira ingaruka nke ku bwonko cyangwa guhindura imimerere niba urwego rwabo rwa phenylalanine rudakwiye. Gukurikirana buri gihe bifasha kwirinda ibi bibazo.

Indwara ya nyina wa PKU ni ikibazo gikomeye ku bagore barwaye PKU batwite. Urwego rwinshi rwa phenylalanine rushobora gutera ubumuga bw’amavuko, ubusembwa bw’ubwonko, n’ibibazo by’umutima ku mwana, hatitawe ku kuba uwo mwana afite PKU cyangwa atayifite.

Phenylketonuria ipima ite?

PKU ipima ahanini hakoreshejwe isuzuma rya mbere ku bana bavuka, ririmo gufata amaraso make ku rutugu rw’umwana mu masaha 24 kugeza kuri 48 nyuma yo kuvuka. Iki kizamini kipima urwego rwa phenylalanine mu maraso.

Niba isuzuma rya mbere ryerekana urwego rwinshi rwa phenylalanine, hakorwa ibindi bizamini kugira ngo hamenyekane neza indwara. Ibyo bishobora kuba harimo gupima amaraso inshuro nyinshi, gupima imyeyo, no gupima gène kugira ngo hamenyekane impinduka zihari.

Abaganga kandi bapima urwego rwa tyrosine kandi barabara umubare wa phenylalanine-to-tyrosine, bifasha kumenya uburemere bw’indwara no kuyivura. Rimwe na rimwe, hakorwa ibizamini kugira ngo hamenyekane imikorere ya enzyme.

Mu bihe bidafite akarusho aho isuzuma rya mbere ku bana bavuka ritakozwe cyangwa ritari ryarumvikanyweho, PKU ishobora kumenyekana nyuma iyo ibimenyetso bigaragara. Ibizamini by’amaraso n’imyeyo bishobora kumenya urwego rwinshi rwa phenylalanine mu myaka yose.

Inama y’abahanga mu bya gène n’isuzuma ry’umuryango bishobora kugirwa inama kugira ngo hamenyekane abaturage kandi hatangwe amakuru yo gutegura umuryango mu gihe kizaza.

Ubuvuzi bwa Phenylketonuria ni ubuhe?

Ubuvuzi nyamukuru bwa PKU ni ugukurikiza indyo yateguwe neza idafite phenylalanine nyinshi ubuzima bwawe bwose. Ibi bivuze kugabanya cyangwa kwirinda ibiryo bikungahaye kuri poroteyine, kuko poroteyine irimo phenylalanine.

Uzakorana n’umuhanga mu by’imirire wamenyereye PKU kugira ngo utegure gahunda y’ibiryo yuzuza ibyo ukeneye byose mu gihe urwego rwa phenylalanine ruguma mu rwego rukwiye. Ibi bisanzwe birimo kurya ahanini imbuto, imboga, n’ibiryo bidasanzwe bifite poroteyine nke.

Ibikoresho by’imiti n’ibindi bintu by’ingenzi ni ibice by’ingenzi byo kuvura PKU. Bitanga poroteyine, vitamine, n’imyunyu y’ubutare ukeneye utabonye phenylalanine. Abantu benshi barwaye PKU bagendera kuri ibi bikoresho nk’isoko yabo y’ibanze ya poroteyine.

Ibizamini by’amaraso buri gihe ni ingenzi mu gukurikirana urwego rwa phenylalanine yawe no guhindura indyo yawe uko bikenewe. Ibyo bizamini bishobora gukorwa buri cyumweru mu buto, hanyuma bigakorerwa gake uko ukura kandi urwego rwawe rugashira.

Bamwe mu bantu bafite ubwoko bworoshye bwa PKU bashobora kungukirwa n’imiti yitwa sapropterin (Kuvan), ishobora gufasha kongera imikorere ya enzyme isigaye. Ariko kandi, iyi miti ntikora kuri buri wese kandi ubusanzwe ikoreshwa hamwe no guhindura indyo.

Ku bafite ubwoko bukomeye bwa PKU, ubuvuzi bushya nko gusimbuza enzyme no kuvura gène biri gukorwaho ubushakashatsi, nubwo bitaramenyekana cyane.

Uburyo bwo guhangana na PKU murugo?

Guhangana na PKU murugo bisaba gutegura neza no kwitondera, ariko biba bisanzwe uko umenya. Ikintu nyamukuru ni ukumenya gusoma ibyanditse ku biryo no kumenya ibiryo byiza kurya.

Komeza ibitabo by’ibiryo kugira ngo ukure urwego rwa phenylalanine yawe kandi ufashe kumenya imiterere niba urwego rwawe rw’amaraso ruzamuka. Abantu benshi basanga porogaramu za terefone zigendanwa zifasha mu kubara phenylalanine iri mu biryo.

Tegura ibiryo mbere bishoboka, kandi uhore ufite ibiryo byiza. Ibi bifasha kwirinda ibibazo aho ushobora kugerageza kurya ibiryo bishobora kuzamura urwego rwa phenylalanine.

Fata imiti yawe cyangwa ibintu by’ingenzi buri gihe, nubwo udakunda uburyohe. Bitanga intungamubiri z’ingenzi udashobora kubona mu mirire yawe yagabanyijwe gusa.

Uko wakwitegura uruzinduko rwawe kwa muganga?

Mbere y’uruzinduko rwawe, kora ibisubizo byawe bya vuba by’amaraso n’ibitabo by’ibiryo niba ubikora. Aya makuru afasha itsinda ryawe ry’ubuvuzi kumenya neza uko gahunda yawe y’ubuzi ikora.

Andika ibimenyetso byose wari ufite, impinduka mu ishyaka ryawe ryo kurya, cyangwa ibibazo ugira mu mirire yawe. Nubwo impinduka nto ari ingenzi mu guhangana na PKU neza.

Tegura urutonde rw’ibibazo ku buvuzi bwawe, nko kumenya niba impinduka ku mirire yawe zishobora kugufasha cyangwa niba hari ubuvuzi bushya wakwiye gutekerezaho.

Niba uteganya gutwita, gufata imiti mishya, cyangwa guhura n’impinduka zikomeye mu buzima, biganiro na itsinda ryawe ry’ubuvuzi. Bashobora kugufasha guhindura gahunda yawe y’ubuzi uko bikwiye.

Zana umuntu wo mu muryango cyangwa inshuti niba ushaka ubufasha, cyane cyane niba muganira ku byemezo bikomeye by’ubuvuzi cyangwa niba wumva uremerewe guhangana n’iyi ndwara.

Icyo ukwiye kumenya cyane kuri Phenylketonuria?

PKU ni indwara ikomeye iterwa na gène, ariko nanone ni imwe mu ndwara zirakwirwa neza iyo iboneka hakiri kare. Hamwe no gucunga indyo neza no kwitabwaho kwa muganga, abantu barwaye PKU bashobora kubaho ubuzima busanzwe kandi bwiza.

Ikintu cy’ingenzi cyo kwibuka ni uko kubona indwara hakiri kare no kuyivura buri gihe aribyo bigira akamaro. Kubera gahunda zo gupima abana bavuka, abana benshi barwaye PKU baboneka kandi bavurwa mbere y’uko haboneka ibibazo.

Nubwo gukurikiza indyo idafite phenylalanine nyinshi bisaba kwiyemeza no gutegura, birashoboka cyane hamwe n’ubufasha n’uburyo bikwiye. Abantu benshi barwaye PKU bagira imirimo myiza, bagira imiryango, kandi bagira uruhare mu bintu byose by’ubuzima.

Niba wowe cyangwa umuntu ukunda afite PKU, ibuka ko utabaye wenyine. Hariho imiryango myiza y’ubufasha, abaganga bamenyereye, n’uburyo bwo kuvura buhora buzamuka kugira ngo ugufashe gukura.

Ibibazo byakunze kubaho kuri Phenylketonuria

Abantu barwaye PKU bashobora kurya ibiryo bisanzwe?

Abantu barwaye PKU bashobora kurya ibiryo byinshi “bisanzwe”, ariko bagomba kwitondera isoko ya poroteyine. Imbuto n’imboga nyinshi ni nziza, kandi hariho uburyo bwihariye bwakozwe bw’ibiryo bidafite poroteyine nyinshi nka bagu, pasta, n’ibindi bintu by’ibanze. Nubwo badashobora kurya ibiryo bikungahaye kuri poroteyine nka inyama, amafi, amagi, n’ibikomoka ku mata mu bwinshi busanzwe, bashobora kurya make, hakurikijwe urwego rwabo rw’ubuzima.

PKU irakira?

Ubu, nta muti wa PKU urahari, ariko iravurwa cyane. Indyo idafite phenylalanine nyinshi no gucunga neza imiti bishobora kwirinda burundu ingaruka zikomeye zifitanye isano n’iyi ndwara. Abashakashatsi bakora ubushakashatsi ku miti ishobora gukiza, harimo kuvura gène no gusimbuza enzyme, ariko ibyo biracyari mu igeragezwa.

Abagore barwaye PKU bashobora kubyara abana bazima?

Yego, abagore barwaye PKU bashobora kubyara abana bazima, ariko bisaba gutegura neza no kwitabwaho na muganga. Bagomba kugera ku rwego rwo hasi rwa phenylalanine mbere yo gutwita no mu gihe cyo gutwita. Ibi bisanzwe bivuze gukurikiza indyo yagabanyijwe kurusha ubundi, ariko hamwe no gucunga neza, ibyago by’ubumuga bw’amavuko bishobora kugabanuka cyane.

PKU igira ingaruka ku gihe cyo kubaho?

Iyo ikurikiranwe neza kuva umwana avuka, PKU ntabwo igira ingaruka ku gihe cyo kubaho. Abantu bafite PKU ikurikiranwe neza bashobora kubaho igihe kirekire nk’abandi. Ikintu nyamukuru ni ugukomeza gucunga indyo neza no gukurikiranwa na muganga buri gihe ubuzima bwabo bwose.

Ni iki kibaho niba umuntu arwaye PKU akennye kurya ibiryo bikungahaye kuri poroteyine?

Rimwe na rimwe kurya ibiryo bikungahaye kuri phenylalanine ntibizatera ibibazo byihuse, ariko bishobora kuzamura urwego rwa phenylalanine mu maraso by’igihe gito. Ibi bishobora gutera ibimenyetso by’igihe gito nko kugorana kwibanda, guhindura imimerere, cyangwa kubabara umutwe. Ikintu cy’ingenzi ni ugukomeza indyo ikwiye no kubwira itsinda ryawe ry’ubuvuzi, rishobora kugutegeka gukurikirana amaraso by’inyongera.