Samarandarikin

Phenylketonuria (PKU) yanayi ne wanda ba a cika samun haihuwa ba a ciki wanda ba a sami ikon fasa amino acid din da ake kira phenylalanine ba.

Phenylketonuria (PKU) yana da gado, wanda ke nufin an wuce shi ta cikin dangi. Duk iyaye dole ne su ba da kwafin halitta wanda ba ya aiki don jariri ya sami yanayin. Lokacin da haka lamarin yake, yayansu suna da damar 1 ko 4 na cutar.

Yaran da ke tare da PKU sun rasa wani enzyme da ake kira phenylalanine hydroxylase. Ana buƙata don lalata mahimmin amino acid phenylalanine. Ana samun Phenylalanine a cikin abinci wanda ke ɗauke da furotin.

Ba tare da enzyme ba, matakan phenylalanine suna haɓaka cikin jiki. Wannan ginin zai iya cutar da tsarin kulawa ta tsakiya kuma zai haifar da lalacewar kwakwalwa.

Phenylalanine na taka rawa wajen samar da melanin a jiki. Launin launi yana da alhakin fata da launin gashi. Sabili da haka, jariran da ke cikin yanayin sau da yawa suna da fata mai sauƙi, gashi, da idanu fiye da 'yan'uwa maza ko mata ba tare da cutar ba.

Sauran cututtuka na iya haɗawa da:

• Jinkirta tunani da zamantakewar al'umma
• Girman kai ya fi na al'ada yawa
• Rashin hankali
• Yunkurin motsi na hannu ko kafafu
• Rashin hankali
• Kamawa
• Rashin fata
• Girgizar ƙasa

Idan ba a magance PKU ba, ko kuma idan aka ci abincin da ke dauke da sinadarin phenylalanine, numfashi, fata, kakin kunne, da fitsari na iya zama warin "mousy" ko "musty". Wannan warin yana faruwa ne sakamakon tarin abubuwan phenylalanine a jiki.

Ana iya gano PKU a sauƙaƙe tare da gwajin jini mai sauƙi. Duk jihohi a Amurka suna buƙatar gwajin PKU ga duk jarirai a matsayin ɓangare na kwamitin binciken jarirai. Gwajin ana yin sa gabaɗaya ta shan dropsan digo na jini daga jariri kafin jaririn ya bar asibiti.

Idan gwajin gwajin ya tabbata, ana bukatar karin gwajin jini da na fitsari dan tabbatar da cutar. Hakanan ana yin gwajin kwayar halitta.

PKU cuta ce da za'a iya magance ta. Jiyya ya ƙunshi rage cin abinci wanda ke da ƙarancin abu a cikin phenylalanine, musamman lokacin da yaro ke girma. Dole ne a bi abincin sosai. Wannan yana buƙatar kulawa ta kusa ta likitan abinci ko likita, da haɗin kai na iyaye da yaro. Waɗanda ke ci gaba da cin abincin har zuwa girma suna da ƙoshin lafiya ta jiki da ta hankali fiye da waɗanda ba sa tsayawa a kai. "Abinci don rayuwa" ya zama mizanin da masana ke ba da shawara. Matan da ke da PKU suna buƙatar bin abincin kafin ɗaukar ciki da cikin cikin duka.

Akwai adadi mai yawa na phenylalanine a cikin madara, kwai, da sauran abinci gama gari. Hakanan mai ƙamshi mai ƙamshi na NutraSweet (aspartame) shima ya ƙunshi phenylalanine. Duk wani samfura da ke dauke da aspartame ya kamata a guje shi.

Akwai fannoni da yawa na musamman waɗanda aka yi don jarirai da PKU. Ana iya amfani da waɗannan azaman tushen tushen furotin wanda ke da ƙarancin ƙarfi a cikin phenylalanine kuma ya daidaita don sauran muhimman amino acid. Yaran manya da manya suna amfani da wata dabara daban wacce ke samar da furotin cikin adadin da suke buƙata. Mutanen da ke da PKU suna buƙatar ɗaukar dabara a kowace rana don rayuwarsu duka.

Ana sa ran sakamakon zai zama mai kyau sosai idan aka bi tsarin abincin sosai, farawa jim kaɗan bayan haihuwar yaron. Idan magani ya jinkirta ko kuma ba a magance matsalar ba, lalacewar kwakwalwa za ta faru. Ayyukan makaranta na iya zama da rauni kaɗan

Idan ba a guje wa sunadarai masu ɗauke da phenylalanine ba, PKU na iya haifar da nakasa ta hankali a ƙarshen shekarar farko ta rayuwa.

Disabilityarancin raunin hankali yana faruwa idan ba a magance matsalar ba. ADHD (cututtukan rashin kulawa da hankali) ya zama matsala ce ta gama gari a cikin waɗanda ba sa tsayawa kan abinci mai ƙananan-phenylalanine.

Kira likitan ku idan ba a gwada jaririn ku na PKU ba. Wannan yana da mahimmanci musamman idan kowa a cikin danginku yana da cutar.

Gwajin enzyme ko gwajin kwayar halitta na iya tantancewa idan iyaye suna ɗaukar kwayar cutar PKU. Ana iya yin samfurin Chorionic villus ko amniocentesis a lokacin daukar ciki don gwada jaririn da ba a haifa ba ga PKU.

Yana da matukar mahimmanci cewa mata masu PKU a hankali su bi tsayayyen abinci mai ɗan ƙaramin phenylalanine tun kafin su sami ciki da kuma lokacin ɗaukar ciki. Yin amfani da phenylalanine zai lalata jariri mai tasowa, koda kuwa yaron bai gaji cikakkiyar cutar ba.

PKU; Yankin nononal phenylketonuria

• Phenylketonuria gwajin
• Jarrabawar gwajin haihuwa

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Laifi a cikin metabolism na amino acid. A cikin: Kliegman RM, St. Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 103.

Kumar V, Abbas AK, Aster JC. Kwayoyin halitta da cututtukan yara. A cikin: Kumar V, Abbas AK, Aster JC, eds. Robins Basic Pathology. 10 ed. Philadelphia, PA: Elsevier; 2018: babi na 7.

Vockley J, Andersson HC, Antshel KM, et al; Kwalejin Kwalejin Kiwon Lafiyar Jama'a ta Amurka da Kwamitin Kiwon Lafiyar Jini. Phenylalanine hydroxylase rashi: ganewar asali da jagorar gudanarwa. Genet Med. 2014; 16 (2): 188-200. PMID: 24385074 www.ncbi.nlm.nih.gov/pubmed/24385074.