Kodi mwana wanu nthawi zonse amakhala wotopa? Kodi ali ndi shuga wochepa m'magazi? Izi zitha kukhala chifukwa cha matenda a Glycogen Storage Disease (GSD)

Kodi mwana wanu nthawi zonse amamva kutopa komanso kutopa? Kodi mwana wanu amaima pang'ono pambali pamene ana ena a msinkhu womwewo akuthamangathamanga ndikusewera? Kapena kodi mwana wanu mwadzidzidzi amasanduka mtundu, thukuta, ndi kunjenjemera akamadya? Monga kholo, ndi zachilendo kuti muzichita mantha kwambiri mukaona zinthuzi. Ngakhale kuti pakhoza kukhala zifukwa zambiri za zizindikiro zotere, lero tikambirana za vuto losowa kwambiri koma lofunika kwambiri lomwe limayambitsa zizindikiro zotere. Imeneyo ndi Glycogen Storage Disease, kapena (GSD) mwachidule.

Mwachidule, kodi matenda osungira Glycogen (GSD) ndi chiyani?

Chabwino, tiyeni timvetse izi mosavuta. Tangoganizani kuti thupi lathu lili ngati galimoto. Galimoto imafuna mafuta kuti iziyenda. Mofananamo, thupi lathu limafunika mphamvu kuti lichite zonsezi, kuthamanga, kulumpha, kuganiza, ndi kupemphera. Gwero lalikulu la mphamvu m'thupi lathu ndi shuga , womwe ndi shuga chabe. Timapeza shuga uyu kuchokera ku zakudya zomwe timadya, monga mpunga, buledi, ndi mbatata.

Tsopano, tikamadya, thupi lathu limapeza shuga wochuluka kuposa womwe umafunikira kuti likhale ndi mphamvu panthawiyo. Ndiye thupi lathu lanzeru limachita chiyani? Limasunga shuga wowonjezerawo kuti ligwiritse ntchito mtsogolo. Zili ngati kusunga banki yamagetsi pafoni yathu. Njira iyi yosungira shuga imatchedwa glycogen . Glycogen iyi imasungidwa kwambiri m'chiwindi ndi minofu yathu.

Tikapanda kudya, kapena tikamagwiritsa ntchito mphamvu zambiri, monga pochita masewera olimbitsa thupi, thupi lathu limasandutsa glycogen yosungidwayo kukhala shuga ndipo limagwiritsa ntchito ngati mphamvu.

Apa pali njira yonseyi, kutanthauza kuti, kuti tisinthe shuga kukhala glycogen ndi glycogen kukhala shuga, thupi lathu limafunika mtundu wapadera wa mapuloteni. Timawatcha ma enzyme . Zili ngati kukhala ndi antchito ogwira ntchito ku fakitale.

Matenda Osungira Glycogen (GSD) ndi vuto lomwe limachitika pamene enzyme imodzi kapena zingapo sizikugwira ntchito bwino m'thupi lathu. Izi zikutanthauza kuti thupi silingathe kusunga glycogen moyenera kapena kugwiritsa ntchito glycogen yosungidwa ikafunika. Izi zingayambitse mavuto monga kuchepa kwa shuga m'magazi (hypoglycemia) komanso kufooka kwa minofu.

Kodi pali mitundu ingati ya GSD?

Inde. Monga tafotokozera kale, pali mitundu yambiri ya ma enzyme omwe amakhudzidwa ndi kagayidwe ka glycogen. Chifukwa chake, pali mitundu yambiri ya GSD kutengera kusowa kwa ma enzyme aliwonsewa. Mitundu yoposa 19 yadziwika mpaka pano. Ngakhale sitikudziwa zambiri za onse, timamvetsetsa bwino mitundu ina yayikulu.

Mitundu iyi ya GSD imakhudza kwambiri chiwindi kapena minofu.Koma mitundu ina ingayambitsenso mavuto m'ziwalo zina za thupi. Madokotala amatcha mitundu iyi ndi dzina la enzyme yomwe ikukhudzidwa kapena wasayansi amene anapeza matendawa koyamba. Mwa mitundu iyi, yodziwika kwambiri ndi GSD type I (GSD type I), yomwe imadziwikanso kuti von Gierke disease.

Kodi zizindikiro zazikulu za GSD ndi ziti? Kodi timazizindikira bwanji?

Zizindikiro za GSD zimatha kusiyana malinga ndi mtundu wa matenda komanso pakati pa anthu omwe ali ndi mtundu womwewo. Mtundu wofala kwambiri wa GSD, mtundu woyamba, nthawi zambiri umayamba kuonekera mwana akakwanitsa miyezi itatu kapena inayi . Komabe, mitundu ina imatha kuwonetsa zizindikiro pambuyo pake, nthawi zina ngakhale ali achinyamata.

Zizindikiro ziwiri zazikulu komanso zodziwika bwino ndi izi:

1. Kuchepa kwa shuga m'magazi (hypoglycemia)

2. Kutopa mosavuta mukamachita masewera olimbitsa thupi kapena kusewera (kusakhala ndi vuto lochita masewera olimbitsa thupi)

Tiyeni tiwone zizindikiro izi mwatsatanetsatane.

Kodi ndi matenda obadwa nawo chifukwa chiyani GSD imayamba?

Inde, GSD ndi matenda obadwa nawo kotheratu. Izi zikutanthauza kuti matendawa amayamba chifukwa cha kusintha kwa majini komwe makolo amatengera kwa ana.

Matenda ambiri a GSD amabadwa nawo m'njira yofanana ndi ya autosomal recessive . Mwachidule, izi zikutanthauza kuti kuti mwana adwale matendawa, makolo onse awiri ayenera kulandira jini yosinthika ya matendawa. Ngati jiniyo yatengedwa ndi kholo limodzi lokha, mwanayo adzakhala wonyamula matendawa ndipo sadzawonetsa zizindikiro.

Komabe, mitundu yochepa yosowa kwambiri, monga GSD type IX, imabadwa mwa njira yotchedwa X-linked inheritance . Izi zikutanthauza kuti jini ya matendawa ili pa chromosome ya X. Ngati mnyamata alandira jini iyi, adzayamba kukhala ndi zizindikiro.

Kodi dokotala amazindikira bwanji matendawa molondola?

Popeza GSD ndi matenda osowa kwambiri, zingatenge nthawi kuti munthu adziwe matendawa. Dokotala ayenera choyamba kuonetsetsa kuti palibe matenda ena omwe amapezeka kawirikawiri. Pambuyo pofunsa za zizindikiro za mwana wanu ndi kumuyesa mwana wanu, dokotala nthawi zambiri amalangiza kuti muyesedwe kangapo.

Izi zingaphatikizepo:

• Kuyesa shuga m'magazi osadya: Kuyang'ana kuchuluka kwa shuga m'magazi musanadye chakudya cham'mawa. Ngati kuchuluka kwa shuga kuli kochepa kwambiri, kungakhale chizindikiro cha GSD.
• Kuyezetsa magazi a Ketone: Thupi likalephera kugwiritsa ntchito shuga kuti likhale ndi mphamvu, limawotcha mafuta kuti likhale ndi mphamvu. Panthawiyo, mankhwala otchedwa ketone amapangidwa. Kuchuluka kwa ketone m'magazi kumatha kukwera mwa ana omwe ali ndi GSD.
• Kuyang'ana kuchuluka kwa cholesterol m'magazi (Lipid panel) ndi uric acid: Nthawi zambiri kuchuluka kumeneku kumakhala kokwera mwa ana omwe ali ndi GSD.
• Mayeso a ntchito ya chiwindi: Mayeso awa amathandiza kudziwa ngati chiwindi chawonongeka.
• Ultrasound ya m'mimba: Izi zimathandiza kudziwa ngati chiwindi chakula (hepatomegaly).
• Kuyezetsa majini: Iyi ndiyo njira yabwino kwambiri yotsimikizira matendawa. Kuyezetsa magazi kumatengedwa kuti kuone ngati pali kusintha kwa majini komwe kumapanga ma enzyme okhudzana ndi GSD.

Nthawi zina, kuti atsimikizire 100% za matendawa, dokotala angalimbikitse kutenga chidutswa chaching'ono cha minofu kuchokera ku chiwindi kapena minofu kuti akachione (biopsy) .

Kodi mankhwala ake ndi otani? Kodi amatha kuchiritsidwa kwathunthu?

Mwatsoka, palibe mankhwala a GSD pakadali pano. Koma musadandaule.Pali mankhwala othandiza kwambiri omwe angathandize mwana kukhala ndi moyo wabwinobwino. Njira zochiritsira zimasiyana malinga ndi mtundu wa matenda.

Cholinga chachikulu ndikuletsa kuti shuga m'magazi asatsike moopsa ndikusungabe pamlingo wokhazikika.

Nazi njira zina zochizira:

1. Perekani chakudya pafupipafupi: Makamaka ana aang'ono, amayesetsa kuti shuga m'magazi mwawo akhalebe m'thupi mwa kuwadyetsa maola angapo aliwonse.

2. Kugwiritsa Ntchito Wowuma wa Chimanga Wosaphikidwa: Iyi ndi njira yofunika kwambiri yochizira matenda a GSD. Wowuma wa Chimanga ndi chakudya chovuta chomwe thupi lathu limavutika kuchigaya. Chifukwa chake, chimanga chaching'ono chikasungunuka m'madzi ndikumwa, chimatulutsa shuga pang'onopang'ono m'magazi. Izi zimatha kusunga shuga m'magazi kwa maola angapo. Njirayi ndi yothandiza kwambiri popewa kuchepa kwa shuga m'magazi makamaka usiku .

3. Chitani chithandizo cha hypoglycemia nthawi yomweyo: Zizindikiro za hypoglycemia zikangoyamba kuonekera, muyenera kumwa mapiritsi a shuga kapena chakumwa chokhala ndi shuga kuti mubwezeretse shuga m'magazi mwachangu. Kuchedwetsa izi kungayambitse matenda aakulu monga khunyu.

4. Chithandizo cha mavuto ena: Pa matenda monga kuchuluka kwa cholesterol m'thupi (hyperlipidemia) ndi kuchuluka kwa uric acid m'thupi (hyperuricemia), dokotala adzakupatsani mankhwala ofunikira (monga allopurinol, statins).

5. Chithandizo Chosintha Ma Enzyme (ERT): Pa mitundu ina ya GSD, monga matenda a Pompe, pali chithandizo chomwe chimalowa m'malo mwa enzyme yomwe yasowa kudzera mu IV infusion. Izi zikuphunziridwabe.

6. Kusamutsa Chiwindi: Ngati chiwindi chawonongeka kwambiri chifukwa cha GSD, kuyika chiwindi kungakhale kofunikira ngati njira yomaliza.

Kodi ndi mavuto otani omwe angabwere munthu akakhala ndi vutoli?

Ngati matendawa sanapezeke msanga ndi kuthandizidwa bwino, mavuto osiyanasiyana angachitike. Izi zimasiyananso kutengera mtundu wa matenda. Mwachitsanzo, GSD type I yosachiritsidwa ingayambitse mavuto monga:

• Kufooka kwa mafupa ndi kusweka mosavuta (osteoporosis)
• Kuchedwa kutha msinkhu
• Matenda a m'mimba
• Matenda a impso
• Matenda a chiwindi omwe si a khansa (hepatic adenomas)
• Matenda a Polycystic Ovary (PCOS)
• Kuchuluka kwa shuga m'magazi pafupipafupi kungakhudze momwe ubongo umagwirira ntchito.

Koma kumbukirani kuti mavuto ambiriwa akhoza kupewedwa powazindikira msanga, kulandira chithandizo choyenera, komanso kuwayang'anira.

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

Izi zimadalira mtundu wa matenda, momwe amadziwidwira msanga, komanso momwe amasamalidwa bwino. Mitundu ina yoopsa imatha kupha mwana ali wakhanda. Koma m'mitundu yambiri, ndi chithandizo choyenera, moyo wabwinobwino ndi wotheka. Dokotala wanu adzatha kukufotokozerani bwino za vuto la mwana wanu.

Kodi tiyenera kupita kwa dokotala liti?

Ngati mwana wanu akuwonetsa zizindikiro za shuga wotsika m'magazi zomwe tidakambirana kale (kugwedezeka, thukuta, kuyera), kapena ngati mukuona kuti mwana wanu sakukula bwino kapena ali ndi minofu yofooka, onetsetsani kuti mwaonana ndi dokotala wa ana.

Popeza GSD ndi vuto lovuta, ndikofunikira kupeza chithandizo kuchokera kwa dokotala yemwe ali ndi chidziwitso chapadera pankhaniyi. Gulu lachipatala la mwana wanu lidzakuthandizani m'njira iliyonse yomwe ingatheke paulendowu.