Phenylketonuria - menene wannan cuta, me ya sa yake faruwa, da kuma yadda za a bi da wani katako?

Bayan gano irin irin cutar - phenylketonuria, wanda aka gano a lokacin jariri, ana buƙatar fara fara magani idan aka gano shi. Binciken farko da farfadowa ya sa ya yiwu a cimma sakamako mai kyau.

Phenylketonuria - menene wannan cuta?

Phenylketonuria, ko cutar Felling, wani cututtuka ne mai tsanani, wanda aka bayyana a 1934 da masanin kimiyya na Norwegian Felling. Sa'an nan Felling ta gudanar da bincike akan yara da yawa da tsinkayar tunanin mutum kuma a bayyana su a cikin fitsari na phenylpyruvate, samfurin rashin lafiya na amino acid phenylalanine, wanda yazo tare da abinci, wanda ba ya raba a jikin marasa lafiya. Phenylketonuria wani cututtuka ne da ke haɗuwa da cuta mai rikitarwa na yanayi maras kyau, ya gano daya daga cikin na farko.

Phenylketonuria shine irin gado

Cututtukan felling ne chromosomal-kwayoyin, haɗin kai, an aika zuwa ga yara daga iyayensu. Mai laifi ga ci gaba da ilimin cututtuka shi ne jinsin dake samuwa a kan chromosome 12. Yana da alhakin samar da kwayar cutar hepatic phenylalanine-4-hydroxylase, ta hanyar fasalin phenylalanine zuwa wani abu - tyrosine (an buƙata don aikin jiki na al'ada).

An kafa cewa phenylketonuria an gaji ne a matsayin wani abu mai ma'ana. Kimanin kashi 2 cikin dari na mutane suna ɗaukar nauyin nakasa, amma basu sha wahala daga phenylketonuria. Harkokin alamu yana tasowa ne kawai lokacin da mahaifi da uba suka mika jigon ta zuwa ga yaron, kuma wannan zai iya faruwa tare da yiwuwar 25%. Idan phenylketonuria an gaji ne a matsayin wani abu mai ma'ana, matar shi ne heterozygous, kuma mijin na homozygous ne don daidaitawar halittar mutum, to, yiwuwar cewa yara zasu zama masu sahun lafiya na gene phenylketonuria kashi 50%.

Hanyoyin phenylketonuria

Tunanin wanda zai iya ci gaba da phenylketonuria, wane nau'i ne na cuta, sau da yawa yana da nau'i-nau'i, wanda ke faruwa a kusan kashi 98 cikin dari. Sauran lokuta - cofactor phenylketonuria, ya haifar da tetrahydrobiopterin lahani saboda rashin cin zarafi na kira ko sabuntawa na aiki nau'i. Wannan abu yana aiki ne a matsayin mahaukaci na wasu enzymes, kuma ba tare da shi ba, bayyanar aikin su ba zai yiwu ba.

Phenylketonuria - Dalilin

Felling cutar wata cuta ce wadda, saboda maye gurbi a cikin kwayar halittar da ke haifar da rashi ko rashin phenylalanine-4-hydroxylase, akwai jari a cikin kyallen takarda da nauyin halittun phenylalanine, kazalika da samfurori na rufewa. Sashin ɓangaren phenylalanine ya karu zuwa phenylketones, wanda aka cire a cikin fitsari, wanda shine abin da aka gano sunan cutar.

Rashin rikici na matakai na rayuwa yana rinjayar kwakwalwa. A kan takalminsa, ana haifar da mummunan sakamako, matakan da ake amfani da shi na ƙwayar ƙarancin jiki sun rushe, ƙaddamar da ƙwayoyin jijiyoyin kasa ya kasa, kuma samfuwar neurotransmitters ya rage. Don haka farawa da kaddamar da tsarin cututtuka na halayyar tunanin mutum a cikin yarinyar.

Phenylketonuria - bayyanar cututtuka

A lokacin haihuwar, jariri da wannan ganewar yana da lafiya, kuma bayan bayan watanni 2-6 an sami alamun bayyanar farko. Alamar Phenylketonuria zata fara bayyana lokacin da jikin yaron ya tara phenylalanine, wanda ya zo tare da nono madara ko gauraya don cin abinci na artificial. Akwai yiwuwar irin wannan baƙaƙe ba tukuna:

Bugu da ƙari, jariran da ke da lafiya suna da fata mai laushi, gashi da idanu fiye da mutanen da ke cikin lafiyar iyali, wanda ke haɗuwa da cin zarafin samar da melanin pigment a jikin. Wani alama na gano cewa likitoci ko masu kulawa da iyayensu zasu iya lura cewa irin wannan motsi ne na "linzamin kwamfuta" wanda ya haifar da sakin phenylalanine a cikin fitsari da gumi.

Bayanin watanni shida, an bayyana bayyanar ta asibiti a bayan an gabatar da abinci na farko:

Sannun ma sune mawuyacin jiki: karami babba, babba babba, babba mai girma. Yaran yara masu fama da rashin lafiya sun fara kama kawunansu, fashe, zauna, tashi. Matsayi na musamman a matsayi na hali shine - mai launi "mai laushi," tare da makamai masu kwance a gefe, da kafafu a gwiwoyi. Lokacin da yake da shekaru uku, idan ba'a fara maganin ba, ana nuna alamun bayyanar.

Phenylketonuria - Sanin asali

Ana iya gano kwayar cutar phenylketonuria a cikin asibiti, wanda ya ba da dama don fara magani a kan lokaci kuma ya hana ci gaba da dama sakamakon. A cikin kwanaki 4-5 bayan haihuwar, jariran suna ɗaukar jinin jini a cikin komai a ciki don gano wasu cututtukan cututtuka mai tsanani, daga cikinsu - phenylketonuria. Idan wani cire daga asibiti na haihuwa ya faru a baya, an yi nazari akan polyclinic a wurin zama a cikin kwanaki 10 na rayuwa.

Bamu cewa a lokuta masu wuya, akwai sakamako mai ɓarna, ba a taɓa gane ganewar asali ba bayan sakamakon binciken farko. Don tabbatar da abubuwan da ke faruwa a yanzu, an tsara wasu darussa da yawa, daga cikinsu:

Zubar da cututtukan kwayoyin cuta da ke haifar da ciwon sifofi na iya ganewa a cikin tayin a lokacin ganewar ganewa. Don yin wannan, an zaɓi samfurori daga sel daga zabin villus ko ruwan amniotic, sa'an nan kuma an gudanar da nazarin DNA. Ana ba da shawara cewa irin wannan binciken a cikin iyalan da ke da mummunan haɗari na ƙwayar cuta, ciki har da, idan akwai yaro tare da phenylketonuria.

Phenylketonuria - magani

Lokacin da aka gano phenylketonuria a cikin jarirai, likitoci na irin wadannan fannoni kamar yadda kwayoyin halitta, likitan yara, neurologist, mai gina jiki ya kamata lura da marasa lafiya. Wadanda suka sani, phenylketonuria - wane nau'i ne na cuta, zai kasance a fili dalilin da ya sa dalilin da yake kula shi ne ya bi abinci tare da ƙuntatawa da phenylalanine. Bugu da ƙari, maganin magani, warkar da cututtuka, likita, farfadowa da kuma hanyoyin ilimin lissafi na yaron, shiri don ilmantarwa, an tsara su.

Phenylketonuria - cin abinci

A lokacin da aka gano "phenylketonuria", an ba da abinci ga ɗan yaran nan da nan. Daga abinci, abinci mai gina jiki (nama, kifi, kayan kiwo, legumes, kwayoyi da sauransu) an cire. Bukatun sunadaran sunadaran sunadaran sunadaran abinci da sauran kayayyakin da berlofen - hydrolyzate mai gina jiki mai santynthetic, gaba daya ba tare da phenylalanine (Tetrafen, Lofenalak, Nofelan) ba. Marasa lafiya suna cin abinci marar yalwar abinci, taliya, hatsi, gami da sauransu. Ana yin nono a cikin iyaka.

Tsayayyar tsayayyar abinci tare da saka idanu akai-akai game da abun ciki na phenylalanine a cikin jini a lokacin farkon shekaru 14 zuwa 15 na rayuwa ya hana ci gaban ƙananan hauka. Sa'an nan kuma abincin da ake ciwa ya kara, amma masana da dama suna ba da shawarar adadin abinci na musamman. Ba'a kula da nau'in haɗin gwiwar phenylketonuria ba tare da cin abinci, amma ana gudanar da shi kawai ta hanyar gudanar da shirye-shiryen tetrahydrobiopterin.

Phenylketonuria - kwayoyi don magani

Yin maganin Phenylketonuria a cikin yara yana samar da abinci na wasu kwayoyi, ciki har da:

Phenylketonuria - ganewa ga rayuwa da cutar

Iyaye da suka san irin nau'in cututtukan kwayoyin halitta - phenylketonuria, a halin yanzu an ba da zarafi don yaron yaro, idan ka bi duk takardun magani. Lokacin da magani bai dace ba, phenylketonuria prognosis ne m: marasa lafiya na rayuwa kimanin shekaru 30 tare da raunin tunani mai tsanani da kuma yawa aiki aiki.