Kodi mwana wanu akuvutika kugaya shuga wa mkaka? Tiyeni tikambirane za Galactosemia!

Podyetsa mwana wakhanda, kaya ndi mkaka wa m'mawere kapena mkaka wa m'mawere, nthawi zina pamakhala mavuto ang'onoang'ono, eti? Tangoganizirani, bwanji ngati mwana wanu sangathe kugaya mtundu wina wa shuga mu mkaka? Inde, zitha kuchitika. Galactosemia ndi kulephera kugaya mtundu wa shuga mu mkaka wotchedwa 'galactose'. Imeneyi ikhoza kukhala vuto lalikulu, koma ngati litazindikirika msanga, tingachepetse mavuto ambiri akuluakulu omwe mwana angakhale nawo.

Kodi vutoli limakhudza bwanji thupi la mwana?

Mwachidule, thupi la mwana wanu likalephera kuswa shuga wa galactose womwe umapezeka mu chakudya, makamaka mkaka, ndikuwusandutsa mphamvu, umayamba kusonkhana m'magazi. Ndipotu, mawu oti 'galactosemia' kwenikweni amatanthauza "kukhalapo kwa galactose m'magazi." Choncho galactose ikasonkhana m'magazi, imafalikira m'thupi lonse. Kenako, enzyme yomwe nthawi zambiri sigwira ntchito ndi galactose imasintha galactose iyi kukhala mowa wotchedwa 'galactitol.' Galactitol iyi ndi poizoni m'thupi.

Pamene galactitol ya poizoni iyi imadziunjikira m'ziwalo ndi minofu ya mwana, imayamba kuwawononga. Ngati sichitha kuchiritsidwa, galactosemia ingayambitse mavuto aakulu monga:

• Matenda a maso .
• Kuchedwa kwa chitukuko .
• Kulephera kwa nzeru .
• Mavuto olankhula .
• Kuvuta kwa minofu ndi mafupa, zomwe zikutanthauza kuvutika ndi luso la minofu ndi mafupa , monga kuyenda ndi kuthamanga.
• Kulephera kwa mitsempha .
• Matenda a impso .
• Kulephera kwa mazira msanga kwa ana aakazi.
• Kulephera kwa chiwindi .
• Sepsis ndi matenda oopsa.

Tangoganizirani kufunika kozindikira vutoli msanga! Ngati mutazindikira msanga, kuchotsa galactose muzakudya za mwana wanu, ndikumuchiza bwino, mutha kupewa mavuto ambiriwa.

Komabe, ngakhale atapezeka msanga ndi kulandira chithandizo, ana ena angapitirize kukhala ndi mavuto ang'onoang'ono. Izi zili choncho chifukwa ngakhale titachotsa galactose kwathunthu muzakudya zathu, matupi athu amatulutsabe galactose pang'ono mwachilengedwe. Izi zimatchedwa galactose ya endogenous . Chifukwa chake, ana omwe amalandira chithandizo nthawi zina amakhala ndi zotsatirazi:

• Kuchedwa kulankhula.
• Zovuta pakuphunzira.
• Mavuto a khalidwe.
• Mavuto okhudzana ndi kulinganiza bwino ndi kugwirizana ( ataxia ).
• Kugwedezeka .
• Kusowa kwa mahomoni, makamaka kuchedwa kwa msinkhu mwa atsikana.

Kodi galactosemia imakhudza bwanji akuluakulu?

Akuluakulu omwe ali ndi galactosemia amatha kukhala ndi moyo wabwinobwino. Komabe, omwe adakumana ndi zizindikiro ali ana akhoza kukhala ndi mavuto ena m'miyoyo yawo yonse. Zizindikiro zina zimatha kukhala zochepa kapena zoyipa kutengera momwe amawongolera zakudya zawo. Komabe, zinthu monga kusowa kwa mahomoni ndizofala, ngakhale atalandira chithandizo.

Kawirikawiri, akazi omwe ali ndi galactosemia, ngakhale atapezeka ndi matendawa ndikuchiritsidwa msanga, amatha kukhala ndi mavuto ndi mazira awo. Izi zimatchedwa primary ovarian insufficiency . Izi zingapangitse kuti zikhale zovuta kutenga pakati ndikusunga mimba. Chithandizo cholowa m'malo mwa mahomoni chingafunikenso kuti chithandize kulamulira msambo. Chithandizo cha mahomonichi chingathandizenso ndi mavuto okhudzana ndi kubereka.

Ndani amadwala matendawa? Kodi ndi ofala bwanji?

Galactosemia ndi matenda a majini . Amabadwa nawo. Mwana adzadwala matendawa ngati makolo onse awiri alandira jini yosinthidwa. Ngati makolo anu onse awiri ali ndi jini yosinthidwa, muli ndi mwayi wa 25% wopeza galactosemia. Ikhoza kukhudza anthu amitundu yonse.

Mtundu woopsa kwambiri wa matenda a galactosemia, wotchedwa classic galactosemia, sufala kwambiri. Mwachidule, umakhudza munthu m'modzi pa anthu 45,000 aliwonse.

Pali mtundu wina wochepa pang'ono wotchedwa Duarte galactosemia . Ndi wofala kwambiri, womwe umakhudza munthu m'modzi pa anthu 4,000 aliwonse. Sikuti kwenikweni ndi kulephera kugaya galactose, koma ndi kuimva.

Kodi zizindikiro za mwana wakhanda amene ali ndi galactosemia ndi ziti?

Ngati mwana wakhanda ali ndi galactosemia yachikhalidwe, amayamba kusonyeza zizindikiro mkati mwa masiku ochepa atayamwitsa. Zizindikirozi zimatha kusiyana nthawi ndi nthawi:

• Chakudyacho sichikoma.
• Kugona pafupipafupi, kutopa .
• Kusanza.
• Kutsegula m'mimba.
• Kuchepetsa thupi kwambiri.
• Kufooka.
• Kulephera kukula bwino .
• Jaundice ( jaundice ) amatanthauza chikasu cha khungu.
• Kutupa kwa chiwindi.
• Kutupa kwa m'mimba ( ascites ).
• Kutupa kuzungulira ubongo ( edema ).

Ngati mukukumana ndi zizindikiro izi, muyenera kuonana ndi dokotala nthawi yomweyo.Dokotala akangozindikira kuti ndi galactosemia, zizindikirozi ziyenera kutha galactose ikachotsedwa pa zakudya za mwana.

Kodi chimayambitsa galactosemia ndi chiyani?

Chifukwa chachikulu cha izi ndi kusintha kwa majini . Izi zikutanthauza kusintha kwa majini. Izi ziyenera kukhala zochokera kwa mayi ndi bambo. Makolo onse awiri akhoza kukhala onyamula majini awa, koma sangasonyeze zizindikiro. Choncho mwana akakhala ndi vutoli, zingakhale zodabwitsa kwambiri.

Chifukwa cha kusintha kwa majini kumeneku, ma enzyme ofunikira kusintha shuga wa galactose kukhala mphamvu sapangidwa bwino m'thupi. Kenako, mankhwala opangidwa kuchokera ku galactose amasonkhana m'thupi. Pali mitundu itatu yosiyanasiyana ya majini omwe amakhudzidwa ndi izi. Chifukwa chake, Galactosemia imagawidwanso m'mitundu itatu.

Kodi mitundu yosiyanasiyana ya Galactosemia ndi iti?

Mtundu Woyamba (Galactosemia Yakale)

Uwu ndiye mtundu wofala kwambiri komanso woopsa wa galactosemia. Umatchedwanso galactosemia yachikhalidwe. Umayambitsidwa ndi kusintha kwa majini a GALT . Jini iyi imapanga enzyme yomwe imaphwanya shuga wa galactose kukhala zinthu zomwe zingagwiritsidwe ntchito monga shuga. Mu mtundu uwu, enzymeyo imakhala yosowa kwambiri. Zotsatira zake, thupi silingathe kugaya galactose, ndipo imasonkhana mwachangu.

Mtundu Wachiwiri (kusowa kwa Galactokinase)

Mtundu wachiwiri uwu umayamba chifukwa cha kusintha kwa majini a GALK1 . Ma enzyme omwe amapangidwa ndi majini awa amathandiza kugaya galactose. Mtundu uwu uli ndi mavuto ochepa azaumoyo kuposa mtundu woyamba. Chiwopsezo chachikulu ndi kukula kwa ma cataract.

Mtundu Wachitatu (kusowa kwa Galactose epimerase)

Jini ya GALE imagwira ntchito pa izi. Izi zimapanganso ma enzyme omwe amathandiza kugaya galactose. Ngati ma enzyme awa achepa, galactose imasonkhana m'thupi. Mtundu wachitatu uwu nthawi zina ungayambitse zizindikiro zochepa, koma nthawi zina ungayambitse zizindikiro zoopsa. Ngati ndi woopsa, ungayambitse matenda a maso, kuchedwa kukula, kulephera kwa nzeru, matenda a chiwindi, ndi mavuto a impso, monga mtundu woyamba.

Duarte galactosemia

Izi zimachitikanso chifukwa cha kusintha kwa majini omwewo a GALT omwe amayambitsa galactosemia yakale. Komabe, pankhaniyi, kusintha kwa majini sikuli koopsa kwambiri. Enzyme yomwe imagaya galactose imachepa mu ntchito, koma sikuti imasowa konse. Anthu omwe ali ndi Duarte galactosemia amatha kuvutika pang'ono m'mimba akamadya zakudya zomwe zili ndi galactose, koma sakhala ndi mavuto akulu azaumoyo monga mitundu ina. Safunikira kuchotsa galactose muzakudya zawo.

Kodi Galactosemia imapezeka bwanji?

M'mayiko otukuka monga United States, khanda lililonse lobadwa kumene limayesedwa matenda angapo awa. Mayesowa amatha kuzindikira matendawa zizindikiro zisanayambe kuonekera. Izi nthawi zina zimatchedwa mayeso a PKU , chifukwa amathanso kuzindikira matenda ena, monga phenylketonuria .

Kuyezetsa kumeneku kumachitika potenga dontho laling'ono la magazi kuchokera pachidendene cha mwana. Izi nthawi zambiri zimachitika patatha maola 24 mwana atabadwa. Ngati mwana wanu ali ndi galactosemia, kuyezetsa magazi kudzawonetsa kuti ntchito ya enzyme ya GALT ndi yochepa. Gulu lachipatala lidzachita kuyezetsa majini kuti lione mtundu wa galactosemia womwe mwana ali nawo. Zipatala zina ku Sri Lanka zili ndi malo ochitira mayeso amtunduwu, kapena mutha kufunsa dokotala wanu za izi.

Kodi galactosemia imachiritsidwa bwanji?

Chithandizo chokhacho cha izi ndikuchotsa galactose kwathunthu muzakudya . Galactose ndi gawo la shuga mu mkaka wotchedwa lactose, kotero nthawi zambiri ndikofunikira kuchotsa pafupifupi mkaka wonse. Izi zikutanthauza kuti simungapereke mkaka wa m'mawere, mkaka wa ng'ombe, yogurt, kapena tchizi. Makanda obadwa kumene amatha kupatsidwa mkaka wa soya kapena mkaka wapadera wopangidwa.

Ana ndi akuluakulu omwe sadya mkaka akhoza kukhala ndi calcium ndi vitamini D yokwanira. Chifukwa chake, angafunike kumwa mankhwala owonjezera. Izi zimathandiza kuti mafupa akhale olimba.

Ndi chithandizo chamtundu wanji chomwe chikufunika pa zotsatirapo zoyipa za nthawi yayitali?

Ana ena angafunike thandizo lowonjezera kuti aphunzire ndikukula pamene akukula. Izi zikutanthauza:

• Chithandizo cha kulankhula.
• Chithandizo cha ntchito chimatanthauza kuthandiza pa ntchito za tsiku ndi tsiku.
• Chithandizo cha khalidwe .
• Mapulani ophunzirira omwe ali ndi cholinga .

Ana aang'ono, makamaka atsikana, angafunike chithandizo cha mahomoni kuti awathandize kufika pa msinkhu wotha msinkhu komanso kusamba.

Kodi Galactosemia ingapewedwe?

Popeza ndi matenda a majini, simungathe kulamulira ngati inuyo kapena mwana wanu adzalandira matendawa. Komabe, inu ndi mnzanuyo mutha kuyezetsa majini kuti muwone ngati muli ndi kusintha kwa majini musanakhale ndi mwana. Mutha kukhala ndi matendawa, koma simungakhale ndi zizindikiro. Ngati mutadziwa izi msanga, mutha kukonzekera kuthekera kwa ana anu kulandira matendawa. Uphungu wa majini ungakuthandizeni kumvetsetsa zambiri za izi. Kuzindikira matendawa msanga ndiyo njira yabwino kwambiri yochepetsera zotsatirapo zoyipa zomwe zingachitike.

Kodi munthu amene ali ndi galactosemia amakhala ndi moyo wautali bwanji?

Ngati matendawa apezeka msanga ndipo munthu atsatira zakudya zopanda galactose, moyo wake umakhala wabwinobwino. Komabe, ngati ziwalo za mwana wakhanda zawonongeka nthawi zonse, zingakhudze thanzi lake kwa nthawi yayitali.

Kodi akuluakulu omwe ali ndi galactosemia amadzisamalira bwanji?

Chofunika kwambiri kwa aliyense amene ali ndi galactosemia ndikutsatira zakudya zopatsa thanzi zopanda galactose . Izi zimafuna kudziletsa kwambiri. Akuluakulu ambiri amaona kuti n'kothandiza kulowa m'madera omwe anthu ngati iwo angagawane maphikidwe ndi zokumana nazo. Ngati zizindikiro zikupitirira, chithandizo chamtunduwu ndi chofunika kwambiri.

Akuluakulu omwe ali ndi galactosemia ayenera kupita kwa dokotala nthawi zonse kuti akaone zizindikiro. Mayeso awa angaphatikizepo:

• Kuyezetsa maso (ngati muli ndi ma cataract).
• Kuyesa momwe dongosolo lamanjenje limagwirira ntchito (zinthu monga ntchito yoyendetsa, vuto la kusazindikira/ kusokonezeka kwa chidwi (ADHD) , kunjenjemera, ndi ataxia ).
• Kuyezetsa kuchuluka kwa mafupa (kufufuza kusowa kwa calcium ndi mchere).
• Kuyang'ana kuchuluka kwa mahomoni (makamaka mwa akazi).

Mwa kuchita kafukufuku wofanana ndi uwu nthawi zonse, zofooka zilizonse zitha kuzindikirika msanga ndikuchiritsidwa zisanafike poipa kwambiri.

Ngakhale kuti galactosemia ndi matenda osowa, imatha kuzindikirika msanga kudzera mu mayeso a majini. Ngati muli ndi pakati kapena mukukonzekera kukhala ndi mwana, inu ndi mnzanu mutha kuyezetsa jini ya galactosemia. Ngati nonse muli ndi jiniyi, pali mwayi wa 25% kuti mwana wanu adzakula nayo. Kuzindikira ndiye mphamvu yayikulu. Izi zingakuthandizeni kukonzekera pasadakhale kuti mupewe zovuta kwambiri za matendawa.

Ngati mwana wanu wakhanda wapezeka ndi vutoli, mungakhale mukumva zambiri (kudabwa, kusokonezeka). Galactosemia nthawi zambiri imakhala yosayembekezereka, makamaka ngati palibe mbiri ya banja la matendawa. Chifukwa chakuti ndi osowa, nthawi zina imatha kupezeka pang'ono ngakhale pakati pa madokotala. Komabe, akapezeka msanga, zotsatirapo zoopsa kwambiri za galactosemia zitha kupewedwa.

Ndi kasamalidwe koyenera ka zakudya, mwana wanu akhoza kukhala ndi moyo wabwinobwino. Mavuto ena okhudzana ndi kukula angabuke, omwe angafunike chithandizo china. Mavuto osayembekezereka awa angabuke kwa makolo pazifukwa zosiyanasiyana. Komabe, podziwa vuto lotere, muli ndi mwayi wokonzekera mavuto amenewo pasadakhale, kuwazindikira msanga, ndikulowererapo msanga kuti mupeze zotsatira zabwino kwambiri.

Zinthu zofunika kwambiri zomwe muyenera kukumbukira kuchokera munkhaniyi (Uthenga Wopita Nawo Kunyumba)

Chabwino, tsopano mwamvetsa bwino zomwe takhala tikulankhula, Galactosemia. Nazi zinthu zofunika kukumbukira:

• Kuzindikira msanga kumapulumutsa moyo: Kuwunika makanda obadwa kumene kumatha kuzindikira izi msanga, zomwe zingapewe mavuto ambiri akuluakulu.
• Kulamulira zakudya n'kofunika: Kudya zakudya zopanda galactose (makamaka zopanda lactose) kuyenera kutsatiridwa moyo wonse.
• Uphungu wa majini ndi wofunika: Poyesa majini musanayambe banja, makolo amatha kudziwa za chiopsezo cha mwana kutenga matendawa.
• Thandizo la nthawi yayitali: Kukula kwa mwana, kuphunzira kwake, ndi thanzi lake lonse ziyenera kuyang'aniridwa nthawi zonse. Thandizo la mankhwala liyenera kuperekedwa ngati pakufunika kutero. Kuyezetsa kuchipatala nthawi zonse ndi thandizo kuchokera ku magulu othandizira ndikofunikiranso kwa akuluakulu.
• Simuli nokha: Kuthana ndi vutoli kungakhale kovuta. Komabe, ndi chithandizo cha madokotala, akatswiri azakudya, akatswiri azachipatala, ndi okondedwa, ulendowu ukhoza kukwaniritsidwa.

Musadandaule, mwana ndi wamkulu omwe ali ndi galactosemia akhoza kukhala ndi moyo wabwino ngati mutadziwa bwino matendawa komanso mukuchitapo kanthu moyenera.

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