Menene phenylketonuria, ainihin alamun bayyanar kuma yaya ake yin magani

Wadatacce

• Babban bayyanar cututtuka
• Yadda ake yin maganin
• Shin akwai maganin phenylketonuria?
• Yadda ake ganewar asali

Phenylketonuria wata cuta ce ta kwayar halitta wacce ba safai ake samunta ba wanda ya shafi halin maye gurbi wanda ke da alhakin canza aikin wani enzyme a cikin jikin da ke da alhakin canzawar amino acid phenylalanine zuwa tyrosine, wanda ke haifar da tarin phenylalanine a cikin jini kuma wanda a sama concentwayoyi masu guba ne ga kwayar halitta, wanda ke haifar da nakasa da kamuwa da hankali, misali.

Wannan cututtukan kwayar halitta suna da yanayin haɓaka na autosomal, wato, don yaron da za a haifa da wannan maye gurbi, dole ne iyaye su kasance aƙalla masu ɗauke da maye gurbin. Za'a iya yin gwajin cutar phenylketonuria kai tsaye bayan haihuwa ta hanyar gwajin dunduniyar dunduniya, sannan kuma yana yiwuwa a tsayar da magani da wuri.

Phenylketonuria ba shi da magani, duk da haka ana yin magani ta hanyar abinci, kuma ya zama dole a guji cin abinci mai wadataccen sinadarin phenylalanine, kamar cuku da nama, misali.

Babban bayyanar cututtuka

Yaran da aka haifa da phenylketonuria da farko basuda wata alama, amma alamun sun bayyana yan watanni kadan, manyan sune:

• Raunin fata kama da eczema;
• Wari mara kyau, halayyar tarawar phenylalanine cikin jini;
• Tashin zuciya da amai;
• Halin tashin hankali;
• Rashin hankali;
• Rashin hankali, yawanci mai tsanani ne kuma ba mai iyawa;
• Raɗaɗɗu;
• Halin ɗabi'a da zamantakewar jama'a.

Wadannan alamun ana yawan sarrafa su ta wadataccen abinci da ƙarancin abincin asalin phenylalanine. Bugu da kari, yana da mahimmanci mutum mai cutar phenylketonuria ya kasance mai kulawa a koyaushe daga likitan yara da masanin abinci mai gina jiki tun daga shayarwa ta yadda ba za a sami matsaloli masu tsanani sosai ba kuma ba ci gaban yaro ba.

Yadda ake yin maganin

Babban maƙasudin maganin phenylketonuria shine rage adadin phenylalanine a cikin jini kuma, sabili da haka, yawanci ana nuna shi don bin ƙarancin abinci a cikin abinci mai ɗauke da phenylalanine, kamar abinci na asalin dabbobi, misali.

Yana da mahimmanci cewa waɗannan canje-canje a cikin abincin suna ƙarƙashin jagorancin mai gina jiki, saboda yana iya zama dole don ƙarin wasu bitamin ko ma'adanai waɗanda ba za a iya samu a cikin abincin yau da kullun ba. Duba yadda abinci yakamata ya kasance game da phenylketonuria.

Mace mai cutar phenylketonuria da ke son yin ciki ya kamata ta sami jagora daga likitan haihuwa da kuma masanin abinci mai gina jiki game da haɗarin ƙara yawan hankalin phenylalanine a cikin jini. Sabili da haka, yana da mahimmanci likita ya kimanta shi lokaci-lokaci, baya ga bin abincin da ya dace don cutar kuma, wataƙila, ƙarin wasu abubuwan gina jiki don uwa da ɗa suna cikin koshin lafiya.

Hakanan ana ba da shawarar cewa jaririn da ke tare da phenylketonuria ya kasance mai sanya ido a duk rayuwarsa kuma a kai a kai don guje wa rikice-rikice, kamar lalata tsarin jijiyoyi, misali. Koyi yadda ake kula da jaririn ku tare da phenylketonuria.

Shin akwai maganin phenylketonuria?

Phenylketonuria bashi da magani kuma, sabili da haka, ana yin maganin kawai tare da sarrafawa a cikin abincin. Lalacewa da lalacewar hankali wanda zai iya faruwa tare da cin abinci mai wadataccen sinadarin phenylalanine ba za a iya sakewarsa ga mutanen da ba su da enzyme ko kuma suna da enzyme ba su da ƙarfi ko kuma ba su da inganci dangane da juyawar phenylalanine zuwa tyrosine. Irin wannan lalacewar, kodayake, za'a iya guje masa cikin sauƙi ta cin abinci.

Yadda ake ganewar asali

Ana gano cutar phenylketonuria jim kaɗan bayan haihuwa ta hanyar gwajin dunduniyar dunduniya, wanda dole ne ayi tsakanin sa'o'i 48 da 72 na farko na rayuwar jariri. Wannan gwajin yana iya gano asali ba kawai phenylketonuria a cikin jariri ba, har ma da sikila na anemia da cystic fibrosis, misali. Gano menene cututtukan da aka gano ta wurin gwajin diddige diddige.

Yaran da ba a gano su da gwajin diddigin diddigin ƙila ba za su iya yin gwajin cutar ta hanyar awon gwaje-gwaje waɗanda makasudin su shine auna yawan sinadarin phenylalanine a cikin jini kuma, a cikin yanayin nitsuwa sosai, ana iya yin gwajin kwayar halitta don gano maye gurbi da cuta.

Daga lokacin da aka gano maye gurbi da narkar da sinadarin phenylalanine a cikin jini, yana yiwuwa likita ya duba matakin cutar da yiwuwar samun matsala. Bugu da kari, wannan bayanin yana da mahimmanci ga masanin abinci mai gina jiki don nuna tsarin abinci mafi dacewa da yanayin mutum.

Yana da mahimmanci ayi amfani da sashi na phenylalanine a cikin jini akai-akai. Dangane da jarirai, yana da mahimmanci a rinka yin sa duk sati har sai jaririn ya cika shekara 1, yayin da yara tsakanin shekaru 2 zuwa 6 dole ne a yi jarabawar duk bayan sati biyu kuma yara daga shekaru 7, kowane wata.