Muviri wako haugone kuchengeta nekushandisa glucose nemazvo here? Ngatitaurei nezve Glycogen Storage Disease (GSD)!

Iwe kana mwana wako munonzwa kuneta nguva dzese here? Kana kuti dzimwe nguva munonzwa kutonhora, kudikitira, uye dzungu here? Munokurumidza kuneta here kana muchifamba kana kutamba? Dzimwe nguva izvi zvinogona kukonzerwa nedambudziko diki munzira iyo muviri wedu unodzora simba, ndiko kuti, mashandisiro aunoita shuga. Nhasi tichataura nezvechirwere chisingawanzoitika icho munhu wese anofanirwa kuziva. Icho chirwere chekuchengetwa kweglycogen , icho chinozivikanwawo pakati pevanachiremba se `(Glycogen Storage Disease)` kana `(GSD)` muchidimbu.

Zvichitaurwa zviri nyore, izvi zvinoreva chii?

Zvakanaka, ngationei kuti `(GSD)` iyi chii. Zvichitaurwa zviri nyore, idambudziko apo muviri wedu haugone kushandisa kana kuchengeta glycogen nemazvo . Idzi imhando yedambudziko remetabolism rinogarwa nhaka, zvichireva kuti rinopfuudzwa kubva kumubereki kuenda kumwana.

Zvino ungave uchishamisika kuti glycogen chii. Glycogen inzira yekuti miviri yedu ichengete glucose, kana shuga, kubva muchikafu chatinodya. Sezvaunoziva, glucose ndiyo simba guru rinopa miviri yedu simba. Tinowana glucose iyi kubva muchikafu chatinodya chine makabhohaidhiretsi. Muviri haudi glucose yese iyi panguva imwe chete. Saka, muviri unochengeta glucose iyi yakawandisa muchiropa netsandanyama seglycogen. Inogona kushandiswa gare gare kana tichida simba.

Maitiro ayo muviri wedu unogadzira glycogen kubva muglucose anonzi glycogenesis . Saizvozvowo, kana muviri uchida simba zvakare, maitiro ayo glycogen iyi yakachengetwa inoputswa uye inodzorerwa kuita glucose anonzi glycogenolysis . Ma enzyme akasiyana-siyana anobatsira mune ese ari maviri maitiro aya.

Chirwere chekuchengetera glycogen (GSD) chinoitika kana imwe kana akawanda ema enzyme aya asipo kana kuti asiri kushanda nemazvo. Izvi zvinoreva kuti muviri haugone kushandisa glycogen yakachengetwa kuti uwane simba kana kuchengetedza huwandu hweshuga muropa nemazvo. Izvi zvinogona kukonzera matambudziko akawanda, anosanganisira huwandu hweshuga muropa hushoma (hypoglycemia) , kukuvara kwechiropa, uye kushaya simba kwetsandanyama.

Kune mhando dzakasiyana dze `(GSD)` here?

Ehe, nekuti miviri yedu inoshandisa ma enzyme akasiyana kugadzira glycogen, kune mhando dzakasiyana dzeGSD - dzinenge gumi nepfumbamwe! Vanachiremba vanoziva zvakawanda nezvedzimwe mhando, asi vachiri kudzidza nezvedzimwe. GSD inonyanya kukanganisa chiropa chako kana tsandanyama. Asi dzimwe mhando dzinogona kukonzera matambudziko mune dzimwe nhengo dzemuviri wako zvakare.

Rudzi rumwe nerumwe rweGSD runokonzerwa nekushaikwa kweenzyme chaiyo inobatanidzwa mukuchengetwa kana kuputsika kweglycogen. Izvi zvinoreva kuti enzyme iyi haipo kana kuti ine huwandu hwakaderera. Vanachiremba dzimwe nguva vanotumidza mhando idzi zita reenzyme isipo kana musayendisiti akatanga kuwana GSD.

Chirwere chekuchengetwa kweglycogen chakajairika sei?

Kutaura zvazviri, chirwere chekuchengetwa kweglycogen chirwere chisingawanzoitiki . ``(GSD)``` rudzi rwekutanga``(GSD rudzi rwekutanga (von Gierke disease))``, inova ndiyo mhando inonyanya kuwanikwa, inowanikwa mumunhu mumwe chete pavana 100,000 vanoberekwa. Saka unogona kuona kuti izvi hazviwanzoitiki.

Ndezvipi zviratidzo zveGSD?

Zviratidzo zveGSD zvinogona kusiyana kubva pamunhu kusvika pamunhu. Izvi zvinoreva kuti kunyangwe vanhu vaviri vane rudzi rumwe rweGSD vanogona kuva nezviratidzo zvakasiyana. GSD Type I (rudzi rwakajairika) inowanzotanga kuratidza zviratidzo mwana paanenge ava nemwedzi mitatu kusvika mina . Zvisinei, mamwe marudzi anogona kuratidza zviratidzo gare gare, dzimwe nguva kunyange pazera rekuyaruka.

Zviratidzo zvikuru zviviri zvinoonekwa muchirwere ichi shuga shoma muropa (hypoglycemia) uye/kana kuneta panguva yekurovedza muviri, zvakaita sekumhanya kana kusvetuka (kusashivirira kurovedza muviri).

Shuga shoma muropa (hypoglycemia) inguva apo huwandu hweshuga muropa rako hunodzikira pasi pe70 mg/dL. Kana izvi zvikaitika, unogona kuona zviratidzo zvakaita se:

• Kunzwa muviri wako uchidedera.
• Kudikitira uye kunzwa kutonhorwa.
• Dzungu , kunzwa sekunge musoro wako watenderera.
• Kunzwa kushaya simba uye kushaya hupenyu.
• Kurova kwemoyo .
• Dzimwe nguva, nzara isingatsungiririki inoitika, uye vamwe vanhu vanoti izvi "hyperphagia".
• Kunetseka kufunga, kutadza kuisa pfungwa pachinhu chimwe chete.
• Kunzwa kunetseka uye hasha.
• Kucheneruka kweganda (kucheneruka).
• Dzimwe nguva, kana huwandu hweshuga muropa hukadzikira zvakanyanya , pfari dzinogona kuitika.

Fungidzirai kudai mwana wenyu aitamba zvakanaka obva atanga kudedera, kudikitira, uye asingatombogoni kutaura? Waizotya zvakadini panguva iyoyo? Ndizvo zvinoreva hypoglycemia .

Pamusoro peizvi, zvimwe zvinhu zvakaita se `(GSD)` zvinogonawo kuonekwa:

• Kurwadziwa kwetsandanyama kana kushaya simba kwetsandanyama.
• Kukura zvishoma nezvishoma uye kuwedzera huremu hushoma muvana.
• Kukura kwechiropa (hepatomegaly).
• Kunzwa tsandanyama kwakaderera.
• Kuwedzera kwecholesterol muropa (hyperlipidemia).

Chii chinokonzera GSD?

Chikonzero chikuru cheGSD inyaya yekuchinja kwemajini kubva muropa . Kuchinja kwemajini uku kunokanganisa mashandiro ema enzyme anodiwa kuchengetedza nekushandisa glycogen. Mwana anogara nhaka shanduko idzi kubva kuna amai nababa vake.

Mazhinji eGSD ane maitiro ekugara nhaka e autosomal recessive. Izvi zvinoreva kuti kuti mwana ave nechirwere ichi, kusiyana kwemajini kunofanira kugara nhaka kubva kuna amai nababa.

Zvisinei, mamwe marudzi, akadai seGSD Group IX, ane nhaka yeX-linked . Izvi zvinoreva kuti genetic mutation iri paX chromosome yako. Kana murume (ane X chromosome imwe chete) aine iyi mutation, achava nechirwere ichi. Kana mukadzi aine iyi mutation paX chromosome imwe uye imwe X chromosome ine hutano, kazhinji haaratidze zviratidzo, asi anogona kunge ari iye anotakura chirwere ichi.

Ndingaziva sei kana ndine `(GSD)`?

Kuti muzive kana mwana wenyu aine GSD, chiremba wemwana wenyu angangoda kuongororwa kakawanda. Nekuti GSD chirwere chisingawanzoitiki, zvinogona kutora nguva kuti muzive zvimwe zvirwere uye kuti muzive kuti vane rudzii rweGSD. Miedzo iyi inogona kusanganisira:

• Kuongororwa kweshuga yeropa yekutsanya: Kana huwandu hweshuga muropa rako hwakaderera mushure mekunge usina kudya chero chinhu mangwanani, zvinogona kuva chiratidzo cheGSD.
• Kuongororwa kweropa reKetone: Kana muviri usingakwanise kushandisa glucose, unopisa mafuta kuti uwane simba. Izvi zvinogadzira zvinhu zvinonzi ketones. Vana vane GSD vanowanzosangana nemamiriro eketosis (kuwedzera kweketones muropa).
• Chikamu che metabolic panel: Izvi zvinogona kupa pfungwa yehutano hwemwana.
• Mafuta emuviri: Izvi zvakakoshawo nekuti cholesterol yakakwira (hyperlipidemia) inowanikwa muGSD.
• Kuongororwa kwebasa rechiropa: Izvi zvinogona kuongorora hutano hwechiropa chemwana wako. Kana paine zvimwe zvinhu zvisina kumira zvakanaka, zvinogona kuva chiratidzo cheGSD.
• Kuongororwa kweweti: Kuongororwa kweweti kunogona kutarisa huwandu hwe creatinine (inoratidza mashandiro eitsvo) uye huwandu hwe uric acid. GSD inowanzoratidza huwandu hwakawanda hwe uric acid (hyperuricemia) .
• Ultrasound yedumbu: Izvi zvinogona kuona kana chiropa chemwana chakakura.
• Kuongororwa kwemajini: Izvi zvinoongorora matambudziko emajini ane chekuita nema enzyme akasiyana-siyana.

Kunyangwe paine bvunzo dzemajini chaiwo ekuona mhando dzakawanda dzeGSD, dzimwe nguva chiremba wemwana wako anogona kukurudzira kuti apihwe biopsy , iyo inosanganisira kutora chidimbu chidiki chenyama kubva muchiropa kana tsandanyama, kuti asimbise chirwere chacho.

GSD inorapwa sei?

Zvinosuwisa kuti hapana mushonga wechirwere chekuchengetwa kweglycogen. Kurapa kwacho kunonyanya kuitirwa kudzora zviratidzo. Sarudzo dzekurapa dzinosiyana zvichienderana nerudzi rweGSD yaunayo. Heano mimwe mienzaniso yesarudzo dzekurapa:

• Kudzivirira shuga shoma muropa: Kupa chibage chisina kubikwa kana chimwe chikafu chakafanana nacho panguva yakakodzera uye nehuwandu hwakakodzera kunogona kubatsira kuchengetedza huwandu hweshuga muropa hwakagadzikana. Chibage chikabhohaidhiretsi chakaoma kunzwisisa chinonetsa muviri kugaya. Nokudaro, chinogona kudzora huwandu hweshuga muropa kwenguva yakareba kupfuura makabhohaidhiretsi anowanikwa muzvikafu zvemazuva ese. Iye zvino kune chimwe chigadzirwa chiri nani chinotengeswa chinoramba chiri mumuviri kwenguva yakareba. Izvi zvichabvisawo kudiwa kwekumuka pakati pehusiku kuti upe imbwa yako chikafu.
• Kurapa shuga shoma muropa: Kana shuga yako muropa ikadonha nekuda kweGSD , unofanira kuirapa nekukurumidza nemacarbohydrates. Zvikasadaro, hypoglycemia inogona kuwedzera uye kukonzera matambudziko akadai sepfari uye coma.
• Kudzora cholesterol yakakwira: Rudzi rwemishonga inonzi statins inobatsira kudzora cholesterol yakawanda.
• Kudzora huwandu hwakawanda hwe uric acid: Mushonga we allopurinol unobatsira kuderedza kugadzirwa kwe uric acid mumuviri.

Mamwe marudzi eGSD (semuenzaniso, GSD type II) anogona kurapwa ne enzyme replacement therapy (ERT) . Izvi zvinowanzoitwa semushonga wemutsinga. Tsvagiridzo ichiri kuenderera mberi yekuona kana ERT inogona kushandiswa kune mamwe marudzi eGSD.

Kana chiropa chakakuvara zvakanyanya nekuda kweGSD, kuisirwa chiropa kunogona kudiwa.

Chirwere chekuchengetwa kweglycogen chinogona kudzivirirwa here?

Sezvo zvirwere zvekuchengetwa kweglycogen zviri zvirwere zvemajini (zvakagarwa nhaka), hapana chatingaita kuti tizvidzivirire.

Kana mumwe munhu mumhuri mako aine GSD, uye uri kufunga nezvekuva nemwana, zvakanaka kutsvaga mazano ezvemajini kuti uone kana iwe uriwo mutakuri wekuchinja kwemajini uku.

Utano hwemunhu ane `(GSD)` hwakaita sei?

Mumhando zhinji dzeGSD, kuongororwa kwechirwere nekukurumidza uye kurapwa kwakakodzera kunogona kuvandudza fungidziro yemurwere. Zvisinei, dzimwe mhando dzeGSD dzakaoma kubata nadzo. Chiremba wako anogona kukupa pfungwa iri nani yezvaunotarisira.

Ndezvipi zvinetso zvinogona kuitika nekuda kweGSD?

GSD inogona kukonzera matambudziko akasiyana-siyana. Zvinoenderana ne:

• Pamhando ye `(GSD)`.
• Kana chirwere ichi chikanonoka kuonekwa.
• Chirwere ichi, kana chikasatarisirwa zvakanaka, chicharamba chiripo.

Semuenzaniso, mamwe ematambudziko anogona kuitika nekuda kwe "(GSD)`` Chikamu chekutanga chisina kurapwa ndeaya:

• Kudzikira kwehuremu hwemapfupa, kutyoka nyore nyore, uye osteoporosis .
• Kunonoka kuyaruka.
• Gout.
• Chirwere cheitsvo.
• Kukwira kweropa mumapapu.
• Matumbu echiropa asiri ekenza (hepatic adenomas).
• Vakadzi vane polycystic ovary syndrome (PCOS).
• Kuzvimba kwepancreas (Pancreatitis).
• Kugara uine shuga shoma muropa kunogona kukanganisa mashandiro europi.

Munhu ane `(GSD)` anorarama kwenguva yakareba sei?

Nguva yekurarama kwemunhu ane chirwere cheglycogen storage disease (GSD) inosiyana zvichienderana nerudzi rwechirwere ichi, kuti chirwere ichi chinoonekwa nekukurumidza sei, uye kuti chinorapwa zvakanaka sei. Mamwe marudzi anogona kuuraya achiri mudiki, nepo mamwe anogona kutungamira kuhupenyu hwemazuva ese. Chiremba wako anogona kukupa mazano akanakisa pane izvi.

Ndinofanira kuona chiremba rini?

Kana iwe kana mwana wako mukaona tsandanyama dzisina simba kana zviratidzo zvinogara zvichiratidza shuga shoma muropa, kurumidzai kuonana nachiremba.

Zvirwere zvekuchengetwa kweGlycogen hazviwanzoitiki uye zvakaoma. Saka, kana zvichibvira, zvakanaka kutsvaga chiremba ane ruzivo nezvechirwere ichi uye maitirwo acho. Chikwata chevanachiremba vemwana wako chichava newe nhanho imwe neimwe kuti chikubatsire kusarudza mushonga wakanakira iyeye.

Mharidzo Yekuenda Nayo Kumba:

Saka, ndinovimba kuti ikozvino mava kunzwisisa zviri nani zvatanga tichitaura nezvazvo, Glycogen Storage Disease (GSD). Kunyangwe iyi iri nyaya yakaoma, zvakakosha kurangarira pfungwa huru.

Yeuka: GSD iboka rezvirwere zvisingawanzoitiki, zvinogara nhaka zvinokonzera kuti muviri usashandise glycogen nemazvo (nzvimbo inochengeterwa shuga mumuviri wedu).

• Zviratidzo zvikuru: Kugara uchidzikira shuga muropa (hypoglycemia) uye kuneta nekukurumidza panguva yekurovedza muviri.
• Chikonzero: Kusakwana kwema enzyme kunokonzerwa nekuchinja kwemajini.
• Kuongorora: Kuongororwa kweropa, kuongororwa kweweti, ultrasound, kuongororwa kwemajini, uye pamwe ne biopsy.
• Kurapa: Kudzora zviratidzo ndiyo nzira huru yekushandisa. Kudya (kunyanya chibage chegorosi), mishonga kana zvichidikanwa, uye enzyme replacement therapy (ERT) kune mamwe marudzi echirwere.
• Chinhu chinonyanya kukosha: Kuongororwa nekukurumidza uye kurapwa nemazvo kunogona kukubatsira kurarama hupenyu hwakajairika. Kana uine zviratidzo, usanonoka kutsvaga rubatsiro rwechiremba.

Tinovimba kuti ruzivo urwu ruchakubatsira. Ramba uine hutano hwakanaka!