Phenylketonuria (Pku)

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), izwi kandi nka PKU, ni indwara idasanzwe ikomoka ku miryango iterwa n'impinduka mu gene rigenzura enzyme icukura phenylalanine. Iyi enzyme ifasha gusenya phenylalanine, acide aminée.

Iyo iyi enzyme ibuze, phenylalanine iba myinshi mu mubiri iyo umuntu arwaye PKU arya ibiryo birimo poroteyine cyangwa aspartame, umwepuru w'imiti. Ibi bishobora gutera ibibazo bikomeye by'ubuzima.

Abantu bafite PKU, haba abana bato, abakuru n'abakuze, bagomba kurya indyo itishimira phenylalanine, isanzwe iboneka cyane mu biryo birimo poroteyine. Imiti mishya ishobora gufasha bamwe mu barwaye PKU kurya indyo irimo phenylalanine nyinshi cyangwa idafite umupaka.

Abana bo muri Leta Zunze Ubumwe za Amerika n'ibindi bihugu byinshi bapimwa PKU nyuma gato yo kuvuka. Nubwo nta muti wa PKU uraboneka, kumenya PKU no gutangira kuvura hakiri kare bishobora kwirinda ibibazo byo gutekereza, kumva no gutumanaho (ubumuga bwo mu mutwe) n'ibibazo bikomeye by'ubuzima.

Abana bavutse bafite PKU nta bimenyetso bagira mu ntangiriro. Ariko kandi, hatabuze ubuvuzi, abana bakunda kwerekana ibimenyetso bya PKU mu mezi make.

Ibimenyetso n'ibimenyetso bya PKU itabyazwe ubuvuzi bishobora kuba bito cyangwa bikomeye kandi bishobora kuba birimo:

• Impumuro mbi mu miheha, ku ruhu cyangwa mu mpisho, iterwa no kuba hari phenylalanine nyinshi mu mubiri
• Ibibazo by'imikorere y'ubwonko (neurological) bishobora kuba birimo ibitero by'indwara z'ubwonko
• Ukwishima kw'uruhu, nko kwishima kw'uruhu (eczéma)
• Uruhu, umusatsi n'amaso byera kurusha abandi bo mu muryango, kuko phenylalanine idashobora guhinduka melanin - igipfundikizo gishinzwe ku ibara ry'umusatsi n'uruhu
• Ubunini buto bwa mutwe (microcephaly)
• Gukora cyane
• Ubusembwa bwo mu bwenge
• Gutinda kw'iterambere
• Ibibazo by'imyitwarire, ibyiyumvo n'imibanire
• Indwara zo mu mutwe

Ubukana bwa PKU biterwa n'ubwoko bwayo.

• PKU isanzwe. Ubwoko bukomeye cyane bw'iyi ndwara bwitwa PKU isanzwe. Enzyme ikenewe mu gusenya phenylalanine iba ibura cyangwa igabanuka cyane. Ibi bituma hari phenylalanine nyinshi ishobora gutera ikibazo gikomeye ku bwonko.
• Ubundi bwoko buke bukomeye bwa PKU. Mu bwoko buke cyangwa buciriritse, enzyme igira akazi gato, bityo urugero rwa phenylalanine ntiruba rwinshi, bigatuma ibyago byo gukomeretsa ubwonko bigabanuka.

Uko ubwoko bwayo bwose bwari kwose, abana bato benshi, abana n'abakuze bafite iyi ndwara bagomba gukurikiza indyo idasanzwe ya PKU kugira ngo birinde ubusembwa bwo mu bwenge n'ibindi bibazo.

Abagore bafite PKU kandi batwite bafite ibyago by'ubundi bwoko bw'iyi ndwara bwitwa PKU ya nyina. Niba abagore badakurikiza indyo idasanzwe ya PKU mbere y'inda no mu gihe cy'inda, urugero rwa phenylalanine mu maraso rushobora kuzamuka rukangiza umwana uri mu nda.

Ndetse n'abagore bafite ubwoko buke bukomeye bwa PKU bashobora gushyira abana babo bataravuka mu kaga batakurikije indyo ya PKU.

Abana bavutse ku bagore bafite urugero rwinshi rwa phenylalanine ntibakunze kuraga PKU. Ariko umwana ashobora kugira ibibazo bikomeye niba urugero rwa phenylalanine rwinshi mu maraso ya nyina mu gihe cy'inda. Igihe umwana avutse, ashobora kugira:

• Ubunini buto bw'umubiri
• Umutwe muto udasanzwe
• Ibibazo by'umutima

Byongeye kandi, PKU ya nyina ishobora gutera umwana gutinda kw'iterambere, ubusembwa bwo mu bwenge n'ibibazo by'imyitwarire.

Gana muganga wawe muri ibi bihe bikurikira:

• Abana bavutse. Niba ibizamini bisanzwe byo gusuzuma abana bavutse bigaragaza ko umwana wawe ashobora kuba afite PKU, umuganga wawe azashaka gutangira kuvura ako kanya kugira ngo wirinde ibibazo by'igihe kirekire.
• Abagore bafite imyaka yo kubyara. Ni ngombwa cyane ku bagore bafite amateka ya PKU kubona umuganga no gukomeza indyo ya PKU mbere yo gutwita no mu gihe cyo gutwita. Ibi bigabanya ibyago byo kwangiza abana bataravuka kubera urwego rwo hejuru rwa phenylalanine mu maraso.
• Abakuze. Abantu bafite PKU bagomba kwitabwaho ubuzima bwabo bwose. Abakuze bafite PKU baretse indyo ya PKU mu gihe cy'ubwangavu bashobora kungukirwa no gusura abaganga babo. Gusubira kuri iyo mirire bishobora kunoza imikorere y'ubwonko n'imyitwarire no gukumira ibindi byangirika ku mutwe bishobora guterwa n'urwego rwo hejuru rwa phenylalanine.

Kugira indwara iterwa na gene ebyiri zihinduwe (autosomal recessive disorder), uragomba guhabwa gene ebyiri zihinduwe, zimwe mu gihe zikunze kwitwa mutations. Ubona imwe kuri buri mubyeyi. Ubuzima bwabo ntabwo bugira ingaruka kenshi kuko bafite gene imwe gusa yahinduwe. Ababyeyi bombi bafite gene yahinduwe bafite amahirwe 25% yo kubyara umwana udahangayitse ufite gene ebyiri zitahinduwe. Bafite amahirwe 50% yo kubyara umwana udahangayitse ariko akaba ari umutwaje wa gene yahinduwe. Bafite amahirwe 25% yo kubyara umwana urwaye ufite gene ebyiri zihinduwe.

Guhinduka kwa gene (genetic mutation) biterwa na PKU, bishobora kuba byoroheje, bikaze cyangwa bikomeye. Ku muntu ufite PKU, guhinduka kwa gene ya phenylalanine hydroxylase (PAH) bituma haboneka enzyme nke cyangwa ntoya ishinzwe gutunganya phenylalanine, acide amine.

Ubwinshi bukabije bwa phenylalanine bushobora kuvuka iyo umuntu ufite PKU arya ibiryo bikungahaye kuri proteine, nka amata, foromaje, imyembe cyangwa inyama, cyangwa ibinyamisogwe nka mugati na pasta, cyangwa aspartame, isukari y'imiti.

Kugira ngo umwana azabyarwe afite PKU, umubyeyi w'umugore n'umugabo bagomba kuba bafite kandi bagatanga gene yahinduwe. Ubu buryo bwo kwandura bwitwa autosomal recessive.

Bishoboka ko umubyeyi aba ari umutwaje wa gene yahinduwe itera PKU, ariko ntarwaye iyo ndwara. Niba umubyeyi umwe gusa afite gene yahinduwe, nta kaga ko kwanduza PKU umwana, ariko bishoboka ko umwana aba ari umutwaje wa gene yahinduwe.

Akenshi, PKU ihererekanywa ku bana n'ababyeyi bombi baba ari abatwaje ba gene yahinduwe, ariko ntibabizi.

Ibintu byongera ibyago byo kuzaragwa na PKU birimo:

• Kugira ababyeyi bombi bafite impinduka z'imiterere ya gene itera PKU. Ababyeyi bombi bagomba guhererekanya kopi y'imiterere ya gene yahindutse kugira ngo umwana wabo arware iyi ndwara.
• Kuba ufite ubwoko runaka bw'abantu cyangwa ubwoko runaka. PKU iboneka mu bantu b'amoko menshi ku isi hose. Ariko muri Leta Zunze Ubumwe za Amerika, iboneka cyane mu bantu bakomoka i Burayi kandi iboneka gake cyane mu bantu bakomoka muri Afurika.

PKU itabyazwe neza ishobora gutera ingaruka mbi ku bana bato, abana n'abakuze barwaye iyo ndwara. Iyo abagore barwaye PKU bafite urugero rwinshi rwa phenylalanine mu maraso mu gihe batwite, bishobora kwangiza umwana wabo uri mu nda.

PKU itabyazwe neza ishobora gutera:

• Kwangirika kw'ubwonko kutazakira ndetse no kugabanuka cyane mu bwenge, bitangira mu mezi ya mbere y'ubuzima
• Ibibazo by'imikorere y'ubwonko nka kwikubita no guhinda umubiri
• Ibibazo by'imyitwarire, ibyiyumvo n'imibanire mu bana bakuru n'abakuze
• Ibibazo bikomeye by'ubuzima n'iterambere

Niba ufite PKU kandi utekereza gutwita:

• Kugira indyo ihagije ya phenylalanine. Abagore bafite PKU barashobora kwirinda akaga ku mwana wabo uri gutera imbere binyuze mu gukomeza cyangwa gusubira ku mirire mike ya phenylalanine mbere yo gutwita. Ibinyobwa by'imirire byakozwe ku bantu bafite PKU birashobora guha umubiri uburyohe buhagije bw'amaprotéine n'imirire mu gihe cyo gutwita. Niba ufite PKU, banza uvugane n'abaganga bawe mbere yo gutangira gushaka gutwita.
• Teganya inama z'ubuvuzi bw'indwara zikomoka ku mbaraga. Niba ufite PKU, umuntu wa hafi ufite PKU cyangwa umwana ufite PKU, ushobora kungukira mu nama z'ubuvuzi bw'indwara zikomoka ku mbaraga mbere yo gutwita. Impuguke mu by'indwara zikomoka ku mbaraga (umuhanga mu by'indwara zikomoka ku mbaraga) irashobora kugufasha gusobanukirwa neza uko PKU ihererekanywa mu muryango wawe. Iyo mpuguke kandi irashobora kugufasha kumenya ibyago byo kubyara umwana ufite PKU no gufasha mu gutegura umuryango.

Isuzuma ry'ababyeyi bashya rigaragaza hafi ibyago byose bya phenylketonuria. Amajyaruguru ya Amerika yose asaba ko abana bavutse bapimwa PKU. Ibihugu byinshi bikora isuzuma ku bana bato ba PKU.

Niba ufite PKU cyangwa amateka y'umuryango wayo, umuvuzi wawe ashobora kugusaba gupimwa mbere y'inda cyangwa ivuka. Bishoboka kumenya abantu bafite PKU binyuze mu gupima amaraso.

Isuzuma rya PKU rikorwa nyuma y'umunsi umwe cyangwa ibiri nyuma y'ivuka ry'umwana wawe. Kugira ngo ibisubizo bibe byiza, isuzuma rikorwa nyuma y'amasaha 24 umwana avutse kandi nyuma y'uko umwana yahawe poroteyine mu mirire.

• Umuforomo cyangwa umukozi wo muri Laboratwari afata utudodo duke tw'amaraso ku gitsina cy'umwana wawe.
• Laboratwari ipima icyitegererezo cy'amaraso kugira ngo harebwe indwara zimwe na zimwe zihungabanya ubuzima, harimo na PKU.
• Niba utarabyariye umwana wawe mu bitaro cyangwa urasezererwa vuba nyuma y'ivuka, ushobora gukenera gutegura isuzuma ry'abana bavutse hamwe n'umuvuzi wawe.

Niba iri suzuma ryerekana ko umwana wawe ashobora kuba afite PKU:

• Umuntu wawe ashobora gukora ibindi bipimo kugira ngo yemeze uburwayi, harimo ibindi bipimo by'amaraso n'ibipimo by'inkari
• Wowe n'umwana wawe mushobora gukora isuzuma rya gene kugira ngo mumenye impinduka z'imiterere ya gene ya PKU

Gutungura hakiri kare no gukomeza kuvurwa ubuzima bwose bishobora gufasha kwirinda ubumuga bwo mu mutwe n'ibibazo bikomeye by'ubuzima. Ubuvuzi nyamukuru bwa PKU burimo:

• Indyo yo mu buzima bwose ifite ifunguro rike cyane rifite phenylalanine
• Gufata ifomu ya PKU - inyongera y'imirire yihariye - ubuzima bwose kugira ngo ubone ibyokurya bihagije by'ingenzi (bitagira phenylalanine) n'ibintu by'ingenzi bikenewe mu gukura no kugira ubuzima busanzwe
• Imiti, kuri bamwe bafite PKU Igipimo cyiza cya phenylalanine gitandukanye kuri buri muntu ufite PKU kandi gishobora guhinduka uko igihe gihita. Muri rusange, igitekerezo ni ukugabanya umubare wa phenylalanine ukeneye gukura neza no gukora imikorere y'umubiri, ariko ntarenga. Umuganga wawe arashobora kumenya umubare ukwiye binyuze muri:
• Suzuma buri gihe inyandiko z'ibiribwa n'imigani y'ubukure
• Ibizamini by'amaraso bikunze gukorwa buri gihe bigenzura urwego rwa phenylalanine mu maraso, cyane cyane mu gihe cyo gukura kw'abana no gutwita
• Ibindi bipimo bisuzuma ubukure, iterambere n'ubuzima Umuganga wawe ashobora kukwerekeza ku muguzi w'ibiryo wabigizemo uruhare ushobora kugufasha kumenya indyo ya PKU, gukora impinduka mu mirire yawe igihe bibaye ngombwa, no gutanga ibitekerezo ku buryo bwo gucunga ibibazo by'imirire ya PKU. Kubera ko umubare wa phenylalanine umuntu ufite PKU ashobora kurya neza ari muke cyane, ni ngombwa kwirinda ibiryo byose bifite proteine nyinshi, nka:
• Amata
• Amayi
• Foromaje
• Imbuto z'amavuta
• Ibicuruzwa bya soya, nka soya, tofu, tempeh na amata
• Ibishyimbo n'ibishyimbo
• Inkoko, inyama z'inka, inyama z'ingurube n'izindi nyama zose
• Ifi Ibirayi, ibinyampeke n'imboga izindi birashoboka ko bizagabanywa. Abana n'abakuze bagomba kandi kwirinda ibindi biribwa n'ibinyobwa, harimo n'ibinyobwa byinshi bya soda n'ibindi binyobwa birimo aspartame (NutraSweet, Equal). Aspartame ni isukari y'imiti yakozwe na phenylalanine. Imiti imwe ishobora kuba irimo aspartame na vitamine zimwe cyangwa izindi nyongeramusaruro zishobora kuba zirimo amino acide cyangwa ifu y'amata yakuweho amavuta. Suzuma na farumasi yawe ku birebana n'ibiri mu bicuruzwa bitavurwa n'abaganga n'imiti ivurwa n'abaganga. Ganira n'abaganga bawe cyangwa umuguzi w'ibiryo wabigizemo uruhare kugira ngo umenye byinshi ku byo ukeneye mu mirire yawe. Kubera indyo igenewe, abantu bafite PKU bagomba kubona intungamubiri z'ingenzi binyuze mu nyongeramusaruro y'imirire yihariye. Ifomu idafite phenylalanine itanga proteine ​​​​y'ingenzi (amino acide) n'izindi ntungamubiri mu buryo buteje akarusho ku bantu bafite PKU. Umuganga wawe n'umuguzi w'ibiryo bashobora kugufasha kubona ubwoko bwiza bw'ifomu.
• Ifomu y'abana bato n'abana bato. Kubera ko ifomu isanzwe y'abana bato n'amata ya nyina birimo phenylalanine, abana bafite PKU bakeneye ifomu y'abana bato idafite phenylalanine. Umujyanama w'ibiryo arashobora kubara neza umubare w'amata ya nyina cyangwa ifomu isanzwe yo kongeramo ifomu idafite phenylalanine. Umujyanama w'ibiryo ashobora kandi kwigisha ababyeyi uko bahitamo ibiryo bikomeye batarenze umubare wa phenylalanine w'umwana buri munsi.
• Ifomu y'abana bakuze n'abakuze. Abana bakuze n'abakuze bakomeza kunywa cyangwa kurya inyongera y'imirire idafite phenylalanine (ifomu ingana na proteine), nk'uko umuganga cyangwa umuguzi w'ibiryo yabitegetse. Igipimo cyawe cya buri munsi cy'ifomu gikwirakwizwa hagati y'ibiribwa byawe n'ibicuruzwa, aho kurya cyangwa kunywa byose rimwe. Ifomu y'abana bakuze n'abakuze si kimwe n'iy'abana bato, ariko itanga kandi proteine ​​​​y'ingenzi idafite phenylalanine. Ifomu ikomeza ubuzima bwose. Ukeneye inyongera y'imirire, cyane cyane niba wowe cyangwa umwana wawe mutabibona ko ari byiza, kandi amahitamo make y'ibiryo bishobora gutuma indyo ya PKU igorana. Ariko kwiyemeza gukora impinduka muri ubu buzima ni bwo buryo bwonyine bwo kwirinda ibibazo bikomeye by'ubuzima abantu bafite PKU bashobora kugira. Ikigo cy'Amerika gishinzwe ibiryo n'imiti (FDA) cyemereye imiti ya sapropterin (Kuvan) kuvura PKU. Imiti ishobora gukoreshwa hamwe n'imirire ya PKU. Bamwe mu bantu bafite PKU bafata imiti bashobora kutakeneye gukurikiza indyo ya PKU. Ariko imiti ntikora kuri buri wese ufite PKU. FDA yemeje kandi uburyo bushya bwo kuvura enzyme, pegvaliase-pqpz (Palynziq), ku bantu bakuru bafite PKU iyo uburyo buriho budashobora kugabanya urwego rwa phenylalanine. Ariko kubera ingaruka mbi zikunze kubaho, zishobora kuba zikomeye, ubu buryo buraboneka gusa nk'igice cy'amagambo yigenga ku bufatanye bw'abaganga bemewe.

Ingamba zo gufasha gucunga PKU zirimo gukurikirana ibyo kurya, gupima neza, no kwigira ubuhanga. Kimwe n’ikindi cyose, uko izi ngamba zirushaho gukoreshwa, ni ko wisanga ufite ituze n’icyizere.

Niba wowe cyangwa umwana wawe akurikiza indyo ya phenylalanine nke, uzakenera kwandika ibyo kurya buri munsi.

Kugira ngo ube ufite ukuri, pima ibice by’ibiribwa ukoresheje ibikombe n’ibipimo by’igikoni bisanzwe hamwe n’uruzi rw’igikoni rugaragaza garama. Ibipimo by’ibiribwa bigereranywa n’urutonde rw’ibiribwa cyangwa bikoreshejwe kubara umubare wa phenylalanine urya buri munsi. Buri ifunguro n’isupu birimo igice gikwiye cy’umutungo wawe wa PKU wa buri munsi.

Hariho ibitabo by’ibiryo, gahunda za mudasobwa na porogaramu za terefone zigaragaza umubare wa phenylalanine mu biribwa by’abana, ibiryo bikomeye, amafomu ya PKU, n’ibintu bisanzwe byo guteka no guteka.

Gupanga ifunguro cyangwa guhindura ifunguro ry’ibiryo bizwi bishobora kugabanya bimwe mu bikorwa byo gukurikirana buri munsi.

Ganira n’umuganga w’indyo kugira ngo umenye uko ushobora kwigira ubuhanga mu biribwa kugira ngo ugumane inzira. Urugero, koresha ibirungo n’uburyo butandukanye bwo guteka kugira ngo uhinduke imboga nke za phenylalanine mu ifunguro ryose ry’ibiribwa bitandukanye. Ibinyomoro n’ibirungo bike bya phenylalanine bishobora kugira impumuro nziza. Ibuka gupima no kubara buri kintu kandi uhindure amafomu y’ibiryo ku mirire yawe yihariye.

Niba ufite izindi ndwara, ushobora kandi kubikoraho iyo upanga indyo yawe. Ganira n’abaganga bawe cyangwa umuganga w’indyo niba ufite ikibazo.

Kubaho na PKU bishobora kuba bigoye. Izi ngamba zishobora gufasha:

• Menya kuri andi miryango. Baza umuganga wawe ku matsinda y’abantu baba bafite PKU mu gace cyangwa kuri internet. Kuganira n’abandi bantu bamaze gutsinda ibibazo nk’ibyo bishobora gufasha. Ishyirahamwe rya PKU rya Amerika ni itsinda ry’abantu baba bafite PKU kuri internet.
• Fata ubufasha mu gutegura ifunguro. Umuganga w’indyo wabigize umwuga ufite ubunararibonye muri PKU ashobora kugufasha gutegura ifunguro ryiza rya phenylalanine nke. Umuganga w’indyo ashobora kandi kugira ibitekerezo byiza ku mafunguro y’iminsi mikuru n’amavuko.
• Tegura mbere iyo ugiye kurya hanze. Ifunguro muri resitora yo mu gace kawe biguha ikiruhuko mu gikoni kandi bishobora kuryohera umuryango wose. Ahenshi hatanga ikintu gikwiye mu mirire ya PKU. Ariko ushobora gushaka guhamagara mbere ukabaza ibyo kurya cyangwa ukajyana ibiryo uvuye mu rugo.
• Ntugate ku biribwa. Gukora igihe cyo kurya nk’igihe cy’umuryango bishobora kugabanya ibitekerezo ku biribwa. Gerageza ibiganiro by’umuryango cyangwa imikino mugihe murya. Shishikariza abana bafite PKU kwibanda ku mikino, umuziki cyangwa ibikorwa bakunda, atari ibyo bashobora kurya n’ibyo badashobora kurya. Tekereza kandi gukora imigenzo y’iminsi mikuru ishingiye ku mishinga yihariye n’ibikorwa, atari ibiryo gusa.
• Reka umwana wawe afashe gucunga indyo hakiri kare. Abana bato bashobora guhitamo ibyo kurya, imbuto cyangwa imboga bashaka kurya no gufasha gupima ibice. Bashobora kandi kwifasha ibiryo byapimwe mbere. Abana bakuru bashobora gufasha gutegura ifunguro, gupakira amafunguro yabo no kubika ibitabo byabo by’ibiryo.
• Kora urutonde rw’ibiribwa n’amafunguro hamwe n’umuryango wose. Isakoshi yuzuye ibiryo bibujijwe bishobora kuba byoroshye ku mwana cyangwa umuntu mukuru ufite PKU, rero gerageza kwibanda ku biribwa buri wese ashobora kurya. Teka imboga zitetse zifite proteine ​​nke. Niba abandi bantu bo mu muryango babishaka, bashobora kongeramo ibihaza, ibigori, inyama n’umuceri. Cyangwa shyiraho salade ifite proteine ​​nke na proteine ​​nyinshi. Ushobora kandi gutanga umuryango wose isupu cyangwa curry nziza ya phenylalanine nke.
• Tegura ibirori, ibirori byo hanze n’ingendo mu modoka. Tegura mbere, kugira ngo habeho buri gihe ibiryo byiza bya PKU. Paaka ibiryo by’imbuto zishaje cyangwa bisiketi bike bya proteine. Jyana imbuto cyangwa imboga mu birori byo guteka, kandi utegure salade ya phenylalanine nke ku birori by’abaturanyi. Ababyeyi bandi, inshuti n’abantu bo mu muryango bashobora gukora impinduka kandi bagufasha niba usobanura amabwiriza yo kurya.