Tiyeni tiphunzire za Inborn Errors of Metabolism (IEM) mwachidule!

Kodi munayamba mwadzifunsapo momwe zinthu zomwe timadya ndi kumwa zimapatsa matupi athu mphamvu ndikumanga matupi athu? Ndi njira yodabwitsa kwambiri, sichoncho? Koma nthawi zina, zolakwika zazing'ono munjira iyi, zomwe ndi zolakwika, zimatha kuchitika kuyambira kubadwa. Ndicho chimene tikambirana lero. Musadandaule, izi zingawoneke ngati nkhani yovuta, koma ndifotokoza m'njira yosavuta yomwe mungamvetse.

Kodi izi zotchedwa Inborn Errors of Metabolism (IEM) ndi ziti?

Mwachidule, kagayidwe kachakudya ndi njira ya mankhwala yomwe imasintha chakudya chomwe timadya kukhala mphamvu ndikuchotsa zinyalala. Zili ngati fakitale yaying'ono mkati mwa matupi athu. Kuti fakitale iyi igwire ntchito bwino, imafunika kukhala ndi zonse zomwe ikufuna.

Tsopano, Inborn Errors of Metabolism (IEM) , yomwe nthawi zina imatchedwa matenda obadwa nawo a kagayidwe kachakudya, ndi gulu la zinthu zomwe njira ya mankhwala yomwe ndatchulayi siichitika bwino. Zili ngati makina omwe ali mufakitale, kapena munthu amene akugwira ntchito pamakinawo, sakugwira ntchito bwino. Izi zimachitika chifukwa ma enzyme ena, omwe ndi mapuloteni apadera omwe amathandiza njira za mankhwalazi, sapangidwa bwino, kapena chifukwa sagwira ntchito bwino.

Kodi pali mitundu yanji ya zolakwika?

Ndipotu, pali mitundu yambirimbiri ya zolakwika zobadwa nazo mu kagayidwe kachakudya. Nthawi zambiri, matenda amenewa amatchedwa mayina a enzyme yomwe sikugwira ntchito bwino. Tiyeni tiwone mitundu ina yodziwika bwino:

• Matenda osungira zinthu m'thupi otchedwa Lysosomal: Tangoganizani kuti matupi athu ali ndi mafakitale ang'onoang'ono omwe amakonza zinyalala. Nthawi zina, m'matenda otchedwa "Lysosomal storage disorders," mafakitale amenewo sagwira ntchito bwino. Kenako, zinyalala zapoizoni zomwe ziyenera kuchotsedwa zimasonkhana m'thupi. Zili ngati zinyalala zomwe zimasonkhana m'nyumba mwanu ngati galimoto yonyamula zinyalala siibwera. Mwachitsanzo, matenda monga "Hurler syndrome," "Gaucher disease," ndi "Tay-Sachs disease," amagwera m'gululi.

• Matenda a mkodzo wa manyuchi a maple: Uwu ndi mkhalidwe womwe ma amino acid, omwe ndi ma protein ofunikira, amasonkhana m'thupi. Izi zitha kuwononga mitsempha yamagazi ndikupangitsa mkodzo kununkhiza ngati manyuchi a maple. Umu ndi momwe matendawa adapezera dzina lake.

• Matenda osungira glycogen: Izi zimachitika thupi likalephera kusunga shuga (glucose) moyenera kuchokera muzakudya zomwe timadya. Izi zingayambitse shuga m'magazi.

• Matenda a Mitochondria:Mitochondria ndi tinthu ting'onoting'ono tomwe timathandiza maselo m'thupi lathu kupanga mphamvu. Mu matenda amenewa, mitochondria imeneyi sigwira ntchito bwino, choncho maselo sangapange mphamvu zomwe amafunikira. Izi zingakhudze ntchito ya ziwalo zambiri zofunika, monga ubongo, minofu, chiwindi, ndi impso.

• Matenda a Peroxisomal: Izi zikufanana ndi matenda osungira lysosomal. Pano, poizoni woopsa amasonkhana m'thupi.

• Matenda a metabolism ya chitsulo: Matupi athu ali ndi zitsulo zosiyanasiyana zochepa. Komabe, m'matendawa, zitsulo zina zimasonkhana m'thupi ndipo zimakhala poizoni. Mwachitsanzo, mu matenda a Wilson, mkuwa umasonkhana kwambiri, ndipo mu hemochromatosis, chitsulo chimasonkhana kwambiri.

• Matenda a urea cycle: Izi zimachitika thupi likalephera kuchotsa bwino mankhwala oopsa otchedwa ammonia, omwe amasonkhana m'magazi ndi kuyambitsa mavuto.

Ndani amene amakhudzidwa kwambiri ndi matenda amenewa?

Aliyense akhoza kukhala ndi zolakwika zobadwa nazo za kagayidwe kachakudya (IEMs). Izi zili choncho chifukwa zimayambitsidwa ndi kusintha kwa majini athu, kapena DNA. Zomwe zimayambitsa majini zomwe zimakhudza mtundu uliwonse wa IEM ndi zosiyana. Komabe, ngati wina m'banja mwanu ali ndi vutoli, muli pachiwopsezo chachikulu chotenga chinthu chonga ichi.

Kodi izi ndi zofala bwanji?

Padziko lonse lapansi, akuti mwana m'modzi mwa ana 2,500 aliwonse obadwa akhoza kukhala ndi vuto la kagayidwe kachakudya kobadwa nako. Izi zikutanthauza kuti izi sizosowa kwenikweni.

Kodi vuto la kagayidwe kachakudya kameneka limakhudza bwanji thupi?

Matenda a IEM amenewa amakhudza kwambiri luso logwiritsa ntchito bwino zakudya zotsatirazi zomwe timapeza kuchokera muzakudya zomwe timadya ndi kumwa:

• Chakudya (wowuma ndi shuga)
• Shuga (shuga)
• Mapuloteni
• Mafuta

Choncho, zizindikiro za matendawa zimatha kukhudza ziwalo zosiyanasiyana m'thupi. Zingakhudzenso kukula kwa mwana, kukula kwa nzeru zake, komanso luso lake lochita ntchito za tsiku ndi tsiku .

Kodi zizindikiro za izi ndi ziti?

Zizindikiro za matenda obadwa nawo a kagayidwe kachakudya zimatha kusiyana malinga ndi munthu ndi munthu. Kuopsa kwa matendawa kumasiyananso malinga ndi munthu ndi munthu. Zizindikiro zina zodziwika bwino ndi izi:

• Kuchedwa kwa chitukuko: Izi zikutanthauza kuti luso la nzeru ndi zakuthupi silikukula mwanjira yoyenera msinkhu.
• Kuchepetsa thupi kapena kuwonjezera thupi.
• Kusakhala wamtali mokwanira (Mavuto a kukula).
• Kugwidwa ndi khunyu : Izi zikutanthauza matenda ofanana ndi khunyu.
• Kusafuna kudya .
• Wotopa, wotopa nthawi zonse .
• Fungo losazolowereka lochokera ku mkodzo, thukuta, kapena mpweya .
• Kupweteka m'mimba, kusanza.

Kumbukirani, musaganize kuti muli ndi vuto la matenda chifukwa chakuti muli ndi chimodzi kapena ziwiri mwa zizindikirozi. Komabe, ngati zizindikirozi zikupitirira, makamaka kwa mwana wamng'ono, ndikofunikira kufunafuna upangiri wa dokotala. Zina mwa matenda amenewa zingakhale zoopsa ngati sizikuchiritsidwa bwino.

Kodi zifukwa zake ndi ziti?

Chifukwa chachikulu cha matenda obadwa nawo a metabolic defects (IEMs) ndi kusintha kwa majini . Izi zimachitika panthawi ya embryonic stage, kutanthauza kuti, mwana akadali m'mimba, pamene maselo amagawikana ndikupanga atsopano.

Majini ena m'thupi lathu amalangiza mapuloteni kuti achite zinthu zofunikira pa kagayidwe kachakudya titadya. Mapuloteni apadera otchedwa ma enzyme ndi omwe amachita zinthuzi.

Tsopano, m'thupi la munthu amene ali ndi vuto la IEM, ma enzyme amenewo salandira malangizo omwe amafunikira kuti agwire bwino ntchito yawo. Ndicho chifukwa chake zizindikirozi zimachitika.

Kodi mumawazindikira bwanji awa?

Nthawi zambiri, madokotala amazindikira matenda obadwa nawo a kagayidwe kachakudya kameneka mwana asanabadwe (kuyezetsa mwana asanabadwe) kapena panthawi yoyezetsa mwana wakhanda . Ku Sri Lanka, ana onse obadwa kumene amayesedwa matenda ena mwa awa. Kwa anthu ena, zizindikiro zimatha kuwonekera ngakhale atakula, ndipo nthawi yomweyo matendawa amapezeka.

Ndi mayeso ati omwe akuchitidwa pa izi?

Popeza pali mitundu yambiri ya IEM, mayeso osiyanasiyana amafunika kuti adziwe matendawa molondola. Ena mwa iwo ndi awa:

• Kuyesa kagayidwe kachakudya: Izi zimaphatikizapo kutenga chitsanzo cha magazi kapena mkodzo ndikuyang'ana momwe zinthu zilili mu amino acid (zomwe zimamanga mapuloteni), mafuta, ndi kuchuluka kwa shuga m'magazi. Izi zingathandize kudziwa mtundu wa matenda.
• Kuyezetsa majini: Apa, chitsanzo cha magazi kapena malovu ochokera mkati mwa mkamwa amatengedwa ndikuyesedwa kusintha kwa majini.
• Amniocentesis: Iyi ndi njira yoyezera yomwe imachitika panthawi ya mimba. Chitsanzo chaching'ono cha madzi amniotic ozungulira mwana m'mimba chimatengedwa ndikuwunikidwa ngati pali zolakwika m'majini.
• Kuyezetsa shuga m'magazi: Izi zimachitika ngati muli ndi zizindikiro monga kutopa pafupipafupi, kumva kufooka, kapena kukomoka.
• Kuyezetsa maso: Matenda ena a IEM amatha kusokoneza masomphenya, choncho kuyezetsa maso kumalimbikitsidwa.

Kodi mankhwala ochizira izi ndi otani?

Chithandizo cha matenda obadwa nawo a kagayidwe kachakudya chimasiyana malinga ndi mtundu wa matenda. Mankhwala akuluakulu ndi awa:

• Kusintha kwa zakudya: Popeza thupi silingagwiritse ntchito bwino zakudya zinazake, kuchotsa zakudya zimenezo muzakudya kungathandize kuchepetsa zizindikiro. Izi nthawi zina zimatha kukhala moyo wonse.
• Kupereka mankhwala:Dokotala wanu angakupatseni mankhwala enaake kuti athandize kagayidwe kanu ka thupi kugwira ntchito bwino. Izi zitha kukhala mankhwala olowa m'malo mwa ma enzyme kapena mankhwala ena olowa m'malo mwa mankhwala.
• Kuyeretsa magazi: Iyi ndi njira yochotsera poizoni m'magazi. Ingakhale yofunikira nthawi zina zadzidzidzi.
• Kuika ziwalo: Pa milandu ina yoopsa ya IEM, kuyika chiwindi, mwachitsanzo, kungakhale kofunikira.

Mitundu ya mankhwala operekedwa

Mitundu ya mankhwala operekedwa imasiyana malinga ndi mtundu wa matenda. Zitsanzo zina ndi izi:

• Yankho la shuga `(yankho la shuga)`
• Insulin (Insulin)
• Sodium benzoate kapena sodium phenylacetate
• Zowonjezera za Amino Acid
• Kulowa m'malo mwa enzyme
• Zakudya zowonjezera

Kodi zotsatirapo zake zingakhale zotani ngati sizikuthandizidwa?

Ngati zilema zobadwa nazo sizikuthandizidwa bwino, thupi silingathe kugwiritsa ntchito bwino zakudya zina, ndipo zinthu zapoizoni zimatha kudziunjikira m'magazi, zomwe zimapangitsa kuti pakhale matenda aakulu monga:

• Kukhala ndi chizungulire (Kugwidwa ndi khunyu)
• Kulephera kwa ziwalo (monga chiwindi, impso)
• Kuwonongeka kwa ubongo

Ndicho chifukwa chake ndikofunikira kwambiri kuzindikira matenda awa mwachangu ndikuchiza moyenera.

Kodi mungakhale bwanji ndi zizindikiro?

Mukakhala ndi matenda a IEM awa, nthawi zina mungamve kutopa komanso kutopa. Zizindikiro zikakula, zimakhala zovuta kuchita ntchito za tsiku ndi tsiku. Chofunika kwambiri ndikutsatira dongosolo la chithandizo lomwe dokotala wanu wakupatsani. Ndikofunikira kwambiri kudya zakudya zoyenera thupi lanu komanso zomwe mungathe kuzikonza bwino.

Nthawi zina, zimakhala zovuta kutsatira zakudya zomwe dokotala wanu amadya, makamaka ngati ndi zakudya zoletsa kwambiri. Zikatero, lankhulani ndi dokotala wanu kapena katswiri wa zakudya kuti akuthandizeni kusintha kadyedwe kanu.

Kodi izi zingapewedwe?

Ndipotu, zilema zobadwa nazo sizingapeweke chifukwa zimayambitsidwa ndi kusintha kwa majini. Komabe, ngati mukukonzekera kuyamba banja, mutha kulankhula ndi dokotala wanu za upangiri wa majini , komanso, ngati kuli kofunikira , kuyezetsa majini . Izi zikuthandizani kumvetsetsa chiopsezo chanu chokhala ndi mwana wokhala ndi vutoli.

Kodi moyo udzakhala bwanji ndi vutoli?

Palibe mankhwala a matenda obadwa nawo a kagayidwe kachakudya (IEMs). Kuopsa kwa zizindikiro zanu kudzatsimikizira tsogolo lanu. Matenda ena a IEM akhoza kukhala oopsa kwambiri ngati poizoni asonkhana m'magazi omwe thupi silingathe kuchotsa.

Koma,Ngati matendawa apezeka msanga, kuchiritsidwa bwino, ndi kusintha kofunikira pa moyo, anthu ambiri akhoza kukhala ndi moyo wabwinobwino komanso wachimwemwe.

Kodi muyenera kupita kwa dokotala liti?

Ngati zizindikiro zanu zikuipiraipira ngakhale mutatsatira ndondomeko ya chithandizo yomwe dokotala wanu wakupatsani, onetsetsani kuti mwaonana ndi dokotala. Ngati muli ndi pakati, funsani dokotala wanu za kuyezetsa mwana wanu asanabadwe komanso makanda omwe angakuthandizeni kuwona ngati mwana wanu ali ndi vuto lobadwa nalo.

Chofunika kwambiri: Ngati inu kapena mwana wanu ali ndi khunyu, pitani kuchipatala chapafupi nthawi yomweyo.

Mafunso oti mufunse dokotala/dokotala wanu

Ngati mwapeza kuti inu kapena wina m'banja mwanu ali ndi matenda amtunduwu, mutha kufunsa dokotala wanu mafunso monga:

• Kodi ine/mwana wanga muli ndi matenda otani obadwa nawo okhudza kagayidwe kachakudya?
• Kodi moyo udzakhala bwanji ndi matendawa?
• Kodi ndondomeko yanga ya chithandizo idzaphatikizapo chiyani?
• Ndi mavuto ati omwe ndiyenera kuda nkhawa nawo kwambiri?
• Kodi izi zimakhudza bwanji moyo wanga watsiku ndi tsiku?
• Kodi pali magulu othandizira komwe mungakumane ndi anthu ena omwe ali ndi matenda osowa ngati awa?

Pomaliza, zinthu zingapo zoti muzikumbukira

Chabwino, tiyeni tikukumbutseninso zina mwa zinthu zomwe tinakambirana zomwe mukuganiza kuti ndizofunikira kwambiri.

• Zolakwika zobadwa nazo mu kagayidwe kachakudya (IEM) ndi matenda omwe amayamba chifukwa cha majini omwe amasokoneza njira yosinthira chakudya chomwe timadya kukhala mphamvu ndikuchotsa zinyalala.
• Pali mitundu yambirimbiri ya matenda ngati amenewa, iliyonse ili ndi zizindikiro ndi mankhwala osiyanasiyana.
• Kuzindikira matendawa msanga komanso kulandira chithandizo choyenera ndikofunikira kwambiri, chifukwa izi zingathandize anthu ambiri kukhala ndi moyo wabwino.
• Kusintha zakudya, mankhwala, ndi nthawi zina njira zina zothandizira zingathandize kuthana ndi matendawa.
• Ngati muli ndi kukayikira kapena mafunso, musaope kulankhula ndi dokotala wanu.

Ndikukhulupirira kuti izi zikuthandizani. Kumbukirani, simuli nokha. Pali madokotala, akatswiri azakudya, ndi magulu othandizira anthu omwe ali ndi matendawa.

Matenda a kagayidwe kachakudya , matenda a majini, ma enzyme, kugaya chakudya, matenda a ana, kuyezetsa majini, kagayidwe kachakudya