Kalmar nan "metabolism", a cikin mahallin rashin ciwo, yana haifar da wani tsari na gyare-gyare na gina jiki na gina jiki - sunadarai, fats da carbohydrates. A cikin wannan labarin, an bincika cin zarafi na metabolism na carbohydrates da sunadarai.
Carbohydrates
Carbohydrates sune kwayoyin sun hada da carbon, hydrogen da oxygen. Akwai carbohydrates mai sauƙi da hadari. Sauran carbohydrates suna wakiltar su, wanda aka raba su guda daya- da kuma disaccharides. Abu mafi mahimmanci daga cikin sauran carbohydrates shine glucose monosaccharide. Ƙarin carbohydrates, ko polysaccharides, irin su sitaci, suna da tsari mai mahimmanci. Don yin kwaskwarima a cikin fili na narkewa, dukkanin carbohydrates shiga cikin abincin ya kamata a raba shi zuwa ga mai sauƙi.
Sunadaran
Sunadaran sunadaran kwayoyi sun hada da sarƙoƙi na amino acid. Kowace gina jiki yana da tsari na musamman, yana da jerin nau'in amino acid. Yawanci, a cikin tsarin metabolism, manyan kwayoyin sunadarai sun rarraba cikin amino acid din su. Wadannan amino acid din suna amfani da su a matsayin tushen makamashi ko kuma suna cikin jerin sunadarai.
Harsoyin Enzyme
Hanyar rabawa da carbohydrates da sunadarai sun dogara ne da cikakken aiki da tsarin tsarin enzyme na jiki. Tare da rashi na ko da ɗaya enzyme, tsarin da ake amfani da shi na rushewa, wanda aka lura, alal misali, a cikin cututtuka na rayuwa. Akwai nau'o'in nau'i na nakasassu na rayuwa, amma duk suna da mahimmanci.
Girma
Abubuwan da ke tattare da kwayoyin halitta suna nufin cututtukan cututtukan kwayoyin halitta kuma yawanci ana gadon su a cikin wani abin da ya dace. A lokaci guda don ci gaba da cutar, dole ne yaron ya sami nau'in kwayoyin cuta biyu: daya daga mahaifinsa kuma daya daga uwarsa.
Diagnostics
Ana iya bincikar rashin lafiya na nakasassu a cikin lokacin daukar ciki, nan da nan bayan haihuwar haihuwa ko a cikin yaro. Zai yiwu a tsammanin cututtuka na wannan rukuni kafin haihuwar yaro, idan iyalin suna da matsalar rashin lafiya.
Cutar cututtuka a jarirai
Yara jarirai tare da nakasa marasa lafiya na al'ada yawanci suna jin zafi a farkon makonni na rayuwa. Sau da yawa ba su shan magunguna ba, suna barci ne da rashin jin dadi, har ma zuwa coma. A wasu lokuta, haɓaka suna ci gaba. Wadannan alamu basu da mahimmanci ga wannan rukuni na cututtuka. Halin halayyar marasa lafiya da cututtuka na rayuwa mai mahimmanci abu ne mai ban sha'awa na fata.
Cutar cututtuka a cikin tsufa
Idan an gano cutar a lokacin tsufa, mai yiwuwa ne yaron yana da digiri mai kyau na cutar. Irin wadannan yara suna da irin wadannan alamun cutar, kamar yadda a cikin jariri, da kuma jinkirin tunani da kuma ci gaban jiki. Sauran cututtuka sun hada da vomiting, convulsions da coma. Babban hakki na metabolism na carbohydrates ne galactosemia da glycogenoses. Wadannan cututtuka da irin wannan cututtuka suna hade da lahani a cikin kira na enzymes. Jiyya yana kunshe da alƙawarin cin abinci na musamman. Galactosemia wani cuta ne wanda ke tattare da shi na carbohydrate metabolism. Labaran litattafai na Monosaccharide wani ɓangare ne na lactose - babban nau'in carbohydrate na madara nono da madarar madara.
Rashin rinjayar raunin enzyme a jiki
Tare da galactosemia, akwai rashi na key enzyme na metabolism - galactose-1-phosphaturidyl transferase. A cikin rashi, tsarin rudani galactose zuwa glucose (babbar mafitar makamashi ga jiki) an rushe shi. Yara da galactosemia suna da babban nauyin galactose a cikin jini da kuma halin da ake ciki ga ƙananan karuwar glucose matakan. Wannan cuta za a iya gaji daga duka mahaifi da uban.
Cutar cututtuka
Yara da galactosemia a haihuwarsu ba su bambanta da magunguna masu kyau, amma yanayin su ya fara tsananta bayan fara ciyar (nono ko kwalban). Wadannan bayyanar cututtuka sun ci gaba:
- jaundice (fata da sclera na idanu saya launin launi);
- fadada hanta;
- rashin isasshen asibiti.
Jiyya da hangen nesa
Jiyya ya ƙunshi alƙawari da abinci mai lactose-free da gluten-free. Samun farko zai taimaka wajen hana ci gaban hanta da sauran matsaloli, irin su jinkirta ci gaba da kuma samarda. Duk da haka, duk da biyayyar abincin da ake bukata tun daga lokacin da ya fara, yara tare da galactosemia suna da matsaloli na ilmantarwa. Glycogen shine babban hanyar samar da makamashi a jikin mutum. Babban kwayarsa ya ƙunshi kananan kwayoyin glucose da aka haɗa tare. Lokacin da jiki yana buƙatar glucose a matsayin tushen makamashi, an saki shi daga glycogen ƙarƙashin rinjayar wasu kwayoyin halitta. Ana samo jari na glycogen a cikin tsokoki da hanta.
Hannun Enzymatic
Tare da glycogenoses akwai cin zarafin matakan glycogen, wanda zai haifar da rashin gine-gine. Akwai nau'i-nau'i daban-daban a cikin tsarin enzyme wanda ke haifar da ci gaban glycogenases. Dangane da kira na abin da enzyme ya karye, cutar za a iya tare da shi
lalacewa da rauni na tsokoki, lalata hanta ko zuciya. A irin waɗannan yara, akwai yiwuwar ragewa mai yawa a glucose jini (hypoglycemia).
Hanyar magani
Yara da glycogenosis na buƙatar ci gaba da jima'i 24 don hana ƙin ƙimar ƙwayar glucose na jini. Dole ne a ciyar da su sau da yawa. Bani jarirai waɗanda ba za su iya amfani da su kullum ba suna ciyar da su ta hanyar ƙwayar nasogastric (kwayar da aka saka cikin ciki ta hanci). Za a iya buƙatar ƙwayar nasogastric don yara da suke buƙatar abinci na carbohydrate yayin barci tare da wani hali don rage yawan glucose na jini. An umurci yara tsofaffin maganin abinci tare da sitaci na masara (wani carbohydrate mai rikitarwa wanda ya ƙunshi sauƙaƙe mai sauƙi). Wannan yana tabbatar da cewa mai yaduwar glucose mai saurin hankali a cikin jini da kuma kula da matakinsa a cikin al'ada. Abubuwan da ke tattare da sinadarin gina jiki sunada wuya, amma suna iya samun tasiri a jikin jikin. Mafi yawan waɗannan sune phenylketonuria, tyrosinemia, homocystinuria da valinoleucinuria. Akwai nau'i-nau'i na nau'i na nakasar gina jiki. Mafi yawan waɗannan sune phenylketonuria, tyrosinemia, homocystinuria da valinoleucinuria.
Phenylketonuria
Phenylketonuria wani cututtuka ne dake nuna rashi na enzyme phenylal-ninhydroxylase. Yanayin yiwuwar phenylketonuria daga 1:10 000 zuwa 1:20 000 haihuwar haihuwa. Yana daya daga cikin cututtuka na al'ada na yau da kullum, amma tasirinsa yana da ƙananan isa.
Enzyme insufficiency
Raunin enzyme a phenylketonuria ya kai ga karuwa a matakin jini na amino acid phenylalanine da metabolites - phenylketones. Suna bayyana a fitsari mai haɗari (saboda haka sunan cutar). Har ila yau ana samun Phenylalanine a madara nono, duk da haka, saboda jinin jini a cikin yarinyar ya tashi zuwa gagarumin matsala, yana da kwana hudu zuwa biyar na nono. A ƙasashe da dama, an jariri jarirai don wannan cututtuka a mako guda bayan haihuwa. Ana samo samfurin jini daga diddige na yaro don binciken bincike.
Dietotherapy
Yayinda yake riƙe da ƙananan phenylalanine a cikin jini, yarinya zai iya girma da girma sosai. Abinci tare da banda phenylalanine shine hanyar da aka fi so, kuma dole ne a bi shi cikin rayuwar. Idan babu magani, wadannan yara suna ci gaba da mummunar cututtuka, wanda ake kira infastile spasms, jinkirta cikin ci gaban jiki da kuma tunanin mutum. Suna da ƙananan ƙananan IQ fiye da abokan su, kodayake mataki na ilmantarwa zai iya bambanta. Tyrosinemia ne cuta mai wuya. Kamar yawancin cututtukan sunadaran gina jiki, yana tasowa lokacin da yaron ya wuce mummunar kwayoyin halitta daga iyaye biyu. Tyrosinemia na faruwa game da sau 10 m akai-akai fiye da phenylketonuria. Sakamakon cutar yana nuna rashi daga fumaryl acetoacetase enzyme kuma yana tare da karuwa a matakin amino acid tyrosine da metabolites cikin jini.
Cutar cututtuka
A cikin marasa lafiya tare da tyrosinemia, ƙananan rufi da kuma rashin lafiya na asibiti suna tasowa. Musamman da sauri ana bayyana shi a cikin jariri da cutar mai tsanani. Kusan ƙananan siffofin suna ɓarna da rashin ciwo na hanta da koda. Yawancin yara tare da tyrosinemia baya ci gaba da hepatoma (ciwon hanta).
Jiyya
Cin abinci mai mahimmanci tare da ƙuntata samfurori da ke dauke da tyrosine, da kuma amfani da abincin abinci yana inganta yanayin jinin mai haƙuri. Duk da haka, cin abinci ba zai iya hana hasara hanta ba. A mafi yawancin lokuta, marasa lafiya suna buƙatar haɓaka hanta. Har ya zuwa kwanan nan, wannan aiki shine kadai hanyar ingantaccen magani. Duk da haka, ana amfani da magunguna yanzu da zai iya hana ci gaban hanta da kuma ciwon hanta. Homocystinuria wata cuta ce mai tsanani, ta bayyana a jariri. Sakamakon cutar yana nuna rashi daga cikin ƙwayar ƙwayar maganin ƙwayar cuta na synthetase. Homocystinuria yana da wuya sosai - kimanin 1 a cikin yara 350,000.
Halaye
Yara da homocystinuria iya samun:
- cin zarafin ci gaban jiki;
- rashin nauyin jiki;
- Tsayar da hankali tare da low IQ;
- yalwaci ga zalunci;
- dislocation (subluxation) na ruwan tabarau na ido;
- matsanancin tsayi da tsayi yatsunsu.
Homocystinuria yana tare da haɗarin ƙananan ƙananan ƙwayar cuta da na bugun jini. Hakanan za'a iya kasancewa mai halayyar kalma (abin da ake kira tafiya na Charlie Chaplin). Wasu yara suna ci gaba da haɗuwa da cututtuka. Game da rabin marasa lafiya tare da homocystinuria amsawa da kyau ga bitamin B (pyridoxine) magani, wanda ya kara yawan aikin enzyme mara kyau. Ana samun wannan bitamin a cikin nama, kifi da hatsi cikakke, amma an buƙata a cikin ƙwayar da yawa fiye da yadda za'a iya samu tare da abinci. Idan farfajiya da bitamin B bai dace ba, rage cin abinci tare da ƙuntata samfurori da ke dauke da amino acid methionine da kuma kara yawan abun ciki na wani amino acid, cysteine, an tsara. Valinooleucinuria wata cuta ce mai wuya a cikin metabolism na amino acid. Yana faruwa a cikin 1 akwati da yara 200,000. Kwayar tana nuna karuwa a matakin amino acid tare da sarkar layi.
Cutar cututtuka
Haka kuma cutar tana da alamun da yawa. Sakamakonsa shine rarraba maple syrup na fitsari. Valynoleucinuria yana da alamun bayyanar cututtukan: bayyanar da mummunan yarinyar; shakatawa; karin jinin acidic fiye da al'ada, yanayin da za a rage a cikin matakan jini. Idan an gane asali a rana ta farko ta rayuwa, za'a iya gane matsala mai kyau. Duk da haka, yawancin yara tare da valinoleucinuria sun mutu a matashi. Masu tsira zasu iya kasancewa masu hasara a ci gaban kwakwalwa kuma sukan fuskanci matsalolin ilmantarwa.