Dukkan Game da Phenylketonuria (PKU) daga Gidajen Kiɗa
Bayani
Phenylketonuria (Fen-ul-keetone-YU-ree-ah, ko PKU) wani cuta ne wanda aka gaji a cikin jiki wanda jiki ba zai iya karya duka sunadaran (amino acid) phenylalanine ba. Wannan ya faru ne saboda dole enzyme, phenylalanine hydroxylase, shi ne kasawa. Saboda wannan, phenylalanine yana cigaba a cikin jikin jikin kuma yana haifar da mummunan tsarin da lalacewar kwakwalwa.
Phenylketonuria wani cuta ne wanda ke iya ganowa wanda sauƙin jini zai iya gane shi. A Amurka, ana buƙatar dukan jariri jarraba don gwada su ga PKU a matsayin ɓangare na zane-zane da kayyade kwayoyin halitta da aka yi akan dukan jarirai . Dukkan yara a cikin United Kingdom, Kanada, Australia, New Zealand, Japan, kasashen yammacin Turai da mafi yawan Gabashin Turai, da kuma sauran ƙasashe a duniya, ana gwada su.
(Nunawa ga PKU a cikin jariran da ba a taɓa haihuwa ba ne daban kuma mafi wuya ga dalilan da dama.)
A kowace shekara an haifi jarirai dubu goma zuwa 15,000 tare da cutar a Amurka da kuma Phenylketonuria a cikin maza da mata na kowane kabilu (ko da yake ya fi kowa a cikin mutanen Arewacin Turai da na asali na Amirka.)
Cutar cututtuka
Wani jaririn da aka haifa tare da phenylketonuria zai bunkasa kullum don 'yan watanni na farko. Idan aka bari ba a gurgunta ba, bayyanar cututtuka fara farawa ta tsawon watanni uku zuwa shida kuma zai iya haɗawa da:
- Rushe ci gaba
- Rawar tunani
- Riƙe
- Very bushe fata, eczema , da rashes
- Maganin "mousy" ko "musty" na fitsari, numfashi, da gumi
- Haske mai haske, haske ko gashi mai laushi
- Jin jiki, rashin natsuwa, damuwa
Sanin asali
Phenylketonuria an gano shi ta hanyar gwajin jini, yawanci a matsayin wani ɓangare na gwajin gwaje-gwaje na yau da kullum da aka ba da jariri a cikin kwanakin farko na rayuwa.
Idan PKU ba a nan ba, matakin phenylalanine zai fi yadda ya dace a cikin jini.
Jarabawar ta zama cikakke idan an yi lokacin da jaririn ya wuce sa'o'i 24 da haihuwa amma kasa da kwana bakwai. Idan an gwada jariri a kasa da sa'o'i 24, an bada shawarar cewa a sake gwada gwajin lokacin da jaririn ya kasance mako daya. Kamar yadda aka gani a sama, jariran da ba a haifa ba a buƙatar gwada su ta hanyar daban-daban don dalilai da yawa ciki har da jinkirin ciyarwa.
Jiyya
Saboda phenylketonuria yana da matsala na watse phenylalanine, an ba jariran abinci na musamman wanda yake da ƙananan bashi a phenylalanine.
Da farko, ana amfani da ƙwayar ƙwayar ɗan ƙaramin phenylalanine ta musamman (Lofenalac).
Yayinda yaron ya tsufa, kayan abinci mai rage-phenylalanine suna kara zuwa abinci, amma babu abinci mai gina jiki mai girma irin su madara, qwai, nama, ko kifi. A artificial sweetener aspartame (NutraSweet, Daidaici) ya ƙunshi phenylalanine, don haka rage cin abinci da abubuwan da ke dauke da aspartame kuma an kauce masa. Kuna iya lura da wurin a kan abin sha mai laushi, irin su Coke abinci, wanda ya nuna cewa samfurin bazai yi amfani da shi da mutane tare da PKU ba.
Dole ne mutum ya kasance a kan rage cin abinci na phenylalanine a lokacin yaro da yaro.
Wasu mutane suna iya rage yawan ƙuntataccen abincin su yayin da suke girma.
Ana buƙatar gwaje-gwajen jini na yau da kullum don auna matakan phenylalanine, kuma abincin na iya buƙatar gyara idan matakan sun yi yawa. Baya ga rage cin abinci, wasu mutane zasu iya amfani da miyagun ƙwayoyi Kuvan (sapropterin) don taimakawa ƙananan matakan phenylalanine cikin jini.
Kulawa
Kamar yadda aka gani, an yi amfani da gwaje-gwajen jini don saka idanu mutane tare da PKU. A halin yanzu sharuɗɗa suna bada shawara cewa jinin jini na phenylalanine ya kamata a kasance tsakanin 120 da 360 uM ga mutane tare da PKU na dukan zamanai. Wani lokaci iyaka har zuwa 600 uM an baka ga tsofaffi. Mace masu ciki, ana buƙatar biyan abincin su mafi tsanani, kuma an ƙaddamar da matsakaicin matakin 240MM.
Nazarin da ake kallo (yawan mutanen da suka bi abincin su da kuma biyan waɗannan sharuɗɗa) yana da kashi 88 cikin dari na yara tsakanin haihuwa da shekaru hudu, amma kashi 33 cikin dari ne kawai a cikin wadanda shekarunsu 30 da haihuwa.
Matsayi na Genetics
PKU shine cututtukan kwayoyin da aka saukar daga iyaye zuwa yara. Don samun PKU, jariri ya sami gado na musamman don PKU daga kowane iyaye. Idan jariri ya karbi jinsi daga iyaye guda, to, jaririn kuma yana ɗaukar jigilar halittar mutun ga PKU amma ba shi da PKU.
Wadanda suke da gadon maye gurbi guda daya ba su ci gaba da PKU ba, amma zasu iya yaduwa ga 'ya'yansu (zama mai ɗauka.) Idan iyaye biyu suna ɗauke da kwayar halitta, suna da damar samun kashi 25 cikin dari na samun jariri tare da PKU, 25 bisa dari damar cewa yaro ba zai ci gaba da PKU ba ko kuma ya kasance mai kaiwa, kuma kashi 50 cikin dari na yaron zai zama magungunan cutar.
Da zarar an gano PKU a cikin jariri, to, dole ne jaririn ya bi shirin abinci na PKU a duk rayuwarsu.
PKU a ciki
Matasa mata tare da phenylketonuria wadanda ba su ci abinci na phenylalnine-ƙuntatawa za su sami matsanancin phenylalanine lokacin da suka yi juna biyu. Wannan zai haifar da manyan matsalolin kiwon lafiya da aka sani da ƙwayar cutar ta PKU ga yaron, ciki har da jinkirin tunanin tunanin mutum, rashin haihuwa, rashin lahani na zuciya, ko sauran lahani na haihuwa . Duk da haka, idan yarinyar ta sake cigaba da rage cin abinci na low-phenylalanine akalla watanni 3 kafin a yi ciki, kuma ya cigaba da cin abinci a duk lokacin da ta yi ciki, za a iya hana ciwo na PKU. A wasu kalmomi, daukar ciki mai kyau yana yiwuwa ga mata da PKU idan dai sun shirya gaba da lura da abincin su a duk lokacin da suke ciki.
Bincike
Masu bincike suna kallon hanyoyi na gyara phénylketonuria, kamar maye gurbin cutar marar lahani wanda ke da alhakin cutar ko ƙirƙirar enzyme mai sarrafawa don maye gurbin wanda ya kasa. Masana kimiyya suna nazarin magungunan sinadarai irin su tetrahydrobiopterin (BH4) da amino acid masu tsaka tsaki kamar yadda hanyoyin magance PKU ta hanyar rage girman phenylalanine cikin jini.
Ciyarwa
Yin gwagwarmaya da PKU yana da wuyar gaske kuma yana buƙatar babban sadaukarwa tun lokacin da yake aiki ne na rayuwa. Taimako zai iya taimakawa kuma akwai ƙungiyoyin tallafi da kuma tallafiyar al'ummomin da za su iya hulɗa tare da wasu waɗanda ke tare da PKU duka don tallafawa ta motsa jiki kuma su cigaba da kasancewa a yau a kan bincike na karshe.
Akwai kungiyoyi masu yawa, haka kuma, wanda ke aiki don tallafa wa mutane da PKU da bincike na asusun zuwa mafi kyau jiyya. Wasu daga cikinsu sun hada da Ƙungiyar Ƙasa ta Duniya don Phenylketonuria, kungiyar National PKU Alliance (wani ɓangare na kungiyar NORD, Ƙungiyar Ƙungiya ta Ƙananan Raho, da kuma PKU Foundation.) Baya ga bincike na kudade, waɗannan kungiyoyi suna ba da taimako wanda zai iya kasancewa daga samar da taimako ga sayan tsari na musamman da aka buƙata ga jarirai tare da PKU, don samar da bayanai don taimakawa mutane su koyi da kuma gudanar da hanyarsu zuwa fahimtar PKU da kuma abin da ake nufi a rayuwarsu.
Sources:
Jurecki, E., Cederbaum, S., Kopesky, J. et al. Haɗuwa ga Ciwon Clinic Ƙwararrun Daga cikin marasa lafiya tare da Phenylketonuria a Amurka. Magungunan kwayoyin halitta da Metabolism . 2017 Janairu 6. (Epub gaba da bugu).
Van Spronsen, F., van Wegberg, A., Ahring, K. et al. Jagoran Yarjejeniya ta Turai don Bincike da Gudanarwa na marasa lafiya tare da Phenylketonuria. Lancet Ciwon sukari da Endocrinology . 2017 Janairu 9. (Epub gaba da bugu).
Vockley, J., Andersson, J., Antshel, K. et al. Harshen Halitta na Hanyoyin Halitta na Phenylalanine: Bayanin Gano Harshen Gini da Jagora. Genetics a Medicine . 2014. 16 (2): 188-200.