Mwana wenyu anogara akaneta here? Ane shuga shoma muropa here? Izvi zvinogona kunge zvichikonzerwa neGlycogen Storage Disease (GSD)

Mwana wako mudiki anogara achinzwa kuneta uye kuneta here? Mwana wako anomira padivi zvishoma kana vamwe vana vezera rimwe chete vachimhanya-mhanya vachitamba here? Kana kuti mwana wako anongoerekana acheneruka, adikitira, uye adedera panguva yekudya here? Semubereki, zvakajairika kuti unzwe kutya zvikuru paunoona zvinhu izvi. Kunyangwe paine zvikonzero zvakawanda zvezviratidzo zvakadaro, nhasi tichataura nezvechirwere chisingawanzoitiki asi chakakosha chinokonzera zviratidzo zvakadaro. Icho chinonzi Glycogen Storage Disease, kana (GSD) muchidimbu.

Zvichitaurwa zviri nyore, chii chinonzi Glycogen Storage Disease (GSD)?

Zvakanaka, ngatinzwisise izvi zviri nyore. Fungidzira kuti muviri wedu wakaita semota. Mota inoda peturu kuti imhanye. Saizvozvowo, muviri wedu unoda simba kuti uite zvinhu izvi zvese, kuti umhanye, usvetuke, ufunge, uye unamate. Simba guru mumuviri wedu iglucose , inova shuga chete. Isu tinowana shuga iyi kubva muzvikafu zvatinodya, zvakaita semupunga, chingwa, nembatatisi.

Zvino, patinodya, muviri wedu unowana glucose yakawanda kupfuura yaunoda kuti uwane simba panguva iyoyo. Saka muviri wedu wakangwara unoita sei? Unochengeta glucose iyoyo yekuwedzera kuti uzoshandisa gare gare. Zvakafanana nekuchengetedza simba remagetsi pafoni yedu. Nzira iyi yekuchengetedza glucose inonzi glycogen . Iyi glycogen inonyanya kuchengetwa muchiropa netsandanyama dzedu.

Kana tisingadyi, kana kuti patinoshandisa simba rakawanda, sepanguva yekurovedza muviri, muviri wedu unoshandura glycogen iyoyo yakachengetwa kuita glucose woishandisa sesimba.

Heino maitiro ese aya, kureva kuti, kushandura glucose kuita glycogen uye glycogen kudzokera kuita glucose, muviri wedu unoda rudzi rwakakosha rweprotein. Tinoadaidza kuti ma enzymes . Zvakafanana nekuva nevashandi vanoshanda mufekitori.

Glycogen Storage Disease (GSD) chirwere chinoitika kana imwe kana akawanda ema enzymes aya asipo kana kuti asiri kushanda zvakanaka mumuviri wedu. Izvi zvinoreva kuti muviri haugone kuchengeta glycogen zvakanaka kana kushandisa glycogen yakachengetwa kana zvichidikanwa. Izvi zvinogona kutungamira kumatambudziko akadai sekudzikira kweshuga muropa (hypoglycemia) uye kushaya simba kwetsandanyama.

Kune mhando ngani dzeGSD?

Ehe. Sezvatakambokurukura, kune marudzi akawanda ema enzymes anobatanidzwa mu glycogen metabolism. Saka, kune marudzi akawanda eGSD zvichienderana nekushaikwa kweimwe neimwe yema enzymes iwayo. Mhando dzinopfuura gumi nemapfumbamwe dzakawanikwa kusvika pari zvino. Kunyange zvazvo tisingazive zvakawanda nezve ese, tine kunzwisisa kwakanaka kwemamwe marudzi makuru.

Mhando idzi dzeGSD dzinonyanya kukanganisa chiropa kana tsandanyama.Asi mamwe marudzi anogona kukonzera matambudziko mune dzimwe nhengo dzemuviri. Vanachiremba vanodana marudzi aya nezita re enzyme yakabatanidzwa kana musayendisiti akatanga kuwana chirwere ichi. Paaya, anonyanya kuzivikanwa iGSD type I (GSD type I), inozivikanwawo sevon Gierke disease.

Ndezvipi zviratidzo zvikuru zveGSD? Tinozviziva sei?

Zviratidzo zveGSD zvinogona kusiyana zvichienderana nerudzi rwechirwere uye kunyange pakati pevanhu vane rudzi rumwe chete. Rudzi rwakajairika rweGSD, rudzi rwekutanga, runowanzotanga kuoneka mwana ava nemwedzi mitatu kusvika mina . Zvisinei, mamwe marudzi anogona kuratidza zviratidzo gare gare, dzimwe nguva kunyange muhudiki.

Zviratidzo zviviri zvikuru uye zvakajairika ndeizvi:

1. Kuderera kweshuga muropa (hypoglycemia)

2. Kuneta nyore nyore paunenge uchirovedza muviri kana kutamba (kusashivirira kurovedza muviri)

Ngatitarisei zviratidzo izvi zvakadzama.

Sei GSD ichikura? Chirwere chinogara nhaka here?

Ehe, GSD chirwere chinogara nhaka zvachose. Izvi zvinoreva kuti chirwere ichi chinokonzerwa nekuchinja kwemajini anogarwa nhaka kubva kuvabereki kuenda kuvana.

Mazhinji eGSD anogarwa nhaka nenzira ye autosomal recessive pattern. Izvi zvinoreva kuti kuti mwana awane chirwere ichi, vabereki vese vanofanira kugara nhaka gene rakachinja rechirwere ichi. Kana gene iri rikagara nhaka kubva kumubereki mumwe chete, mwana anenge ari mutakuri uye haazoratidzi zviratidzo.

Zvisinei, mhando shoma dzisingawanzoitiki, dzakadai seGSD type IX, dzinogara nhaka nenzira inonzi X-linked inheritance . Izvi zvinoreva kuti jini rechirwere iri paX chromosome. Kana mukomana akagara nhaka jini iri, acharatidza zviratidzo zvechokwadi.

Chiremba anoongorora sei chirwere ichi chaizvo?

Nekuti GSD chirwere chisingawanzoitiki, zvinogona kutora nguva kuti chiongororwe. Chiremba anofanira kutanga aona kuti hapana zvimwe zvirwere zvakajairika. Mushure mekubvunza nezvezviratidzo zvemwana wenyu nekuongorora mwana wenyu, chiremba anowanzo kurudzira kuongororwa kwakawanda.

Izvi zvinogona kusanganisira:

• Kuongororwa kweshuga yeropa yekutsanya: Kuongorora huwandu hweshuga muropa usati wadya kudya kwemangwanani. Kana huwandu hweshuga hwakaderera zvakanyanya, zvinogona kuva chiratidzo cheGSD.
• Kuongororwa kweropa reKetone: Kana muviri usingakwanise kushandisa glucose sesimba, unopisa mafuta sesimba. Panguva iyoyo, makemikari anonzi ketone anogadzirwa. Maketone muropa anogona kukwira muvana vane GSD.
• Kuongorora huwandu hwecholesterol muropa (Lipid panel) uye huwandu hweuric acid: Hunhu uhwu hunowanzo wedzera muvana vane GSD.
• Kuongororwa kwebasa rechiropa: Kuongororwa uku kunobatsira kuona kana chiropa chakakuvara.
• Ultrasound yedumbu: Izvi zvinobatsira kuona kana chiropa chakakura (hepatomegaly).
• Kuongororwa kwemajini: Iyi ndiyo nzira yakanakisisa yekusimbisa chirwere. Ropa rinotorwa kuti rionekwe kana paine shanduko mumajini anogadzira ma enzyme ane chekuita neGSD.

Mune zvimwe zviitiko, kuti ave nechokwadi che 100% chechirwere ichi, chiremba anogona kukurudzira kutora kanyama kadiki kechiropa kana tsandanyama kuti kaongororwe (biopsy) .

Mishonga yeizvi ndeipi? Inorapika zvachose here?

Zvinosuwisa kuti hapasati pava nemushonga weGSD. Asi musazvidya moyo.Kune mishonga inoshanda zvikuru inogona kudzora zviratidzo uye kubatsira mwana kurarama hupenyu hwakajairika. Nzira dzekurapa dzinosiyana zvichienderana nerudzi rwechirwere.

Chinangwa chikuru ndechekudzivirira huwandu hweshuga muropa kuti husadzike zvine njodzi uye kuti hurambe huri padanho rakagadzikana.

Heano mamwe maitiro ekurapa:

1. Dyisai vana nguva nenguva: Kunyanya vana vadiki, vanoedza kuchengetedza huwandu hweshuga muropa ravo hwakagadzikana nekuvapa chikafu maawa mashoma ega ega.

2. Kushandisa Chibage Chisina Kubikwa: Iyi inzira yakakosha yekurapa inoshandiswa mukurapa GSD. Chibage chikabhohaidhiretsi chakaoma kugayiwa nemuviri wedu. Saka, kana chibage chikanyungudutswa mumvura chonwiwa, chinoburitsa glucose muropa zvishoma nezvishoma. Izvi zvinogona kuchengetedza huwandu hweshuga muropa hwakagadzikana kwemaawa akati wandei. Nzira iyi inobatsira zvikuru mukudzivirira kuderera kweshuga muropa kunyanya husiku .

3. Rapai hypoglycemia nekukasika: Kana zviratidzo zvehypoglycemia zvangoonekwa, nwai mapiritsi eglucose kana chinwiwa chine shuga kuti mudzorere huwandu hweshuga muropa nekukurumidza. Kunonoka izvi kunogona kukonzera zvirwere zvakakomba zvakaita sepfari.

4. Kurapa kwemamwe matambudziko: Kune zvirwere zvakaita sehuwandu hwemafuta akawandisa mumuviri (hyperlipidemia) uye huwandu hweuric acid (hyperuricemia), chiremba achanyora mishonga inodiwa (semuenzaniso allopurinol, statins).

5. Kurapa Kutsiva MaEnzyme (ERT): Kune mamwe marudzi eGSD, akadai sechirwere chePompe, kune mushonga unotsiva enzyme isipo kuburikidza ne IV infusion. Izvi zvichiri kudzidzwa.

6. Kuisirwa Chiropa: Kana chiropa chikakuvara zvakanyanya nekuda kweGSD, kuisirwa chiropa kunogona kudiwa senzira yekupedzisira.

Ndezvipi zvinetso zvinogona kuitika kana munhu achirarama nechirwere ichi?

Kana chirwere chikasaonekwa nekukurumidza uye chikasagadziriswa nemazvo, matambudziko akasiyana-siyana anogona kuitika. Izvi zvinosiyanawo zvichienderana nerudzi rwechirwere. Semuenzaniso, kana chirwere cheGSD chisina kurapwa chinogona kukonzera matambudziko akadai se:

• Kupera simba kwemapfupa uye kutyoka nyore nyore (osteoporosis)
• Kunonoka kuyaruka
• Gout
• Chirwere cheitsvo
• Matumbu echiropa asina kenza (hepatic adenomas)
• Polycystic Ovary Syndrome (PCOS)
• Kugara uine shuga shoma muropa kunogona kukanganisa mashandiro europi.

Asi yeuka, matambudziko mazhinji aya anogona kudzivirirwa nekuongorora chirwere ichi nekukurumidza, kurapwa kwakakodzera, uye kurapwa kwakakodzera.

Munhu ane GSD anotarisirwa kurarama kwenguva yakareba sei?

Izvi zvinoenderana nerudzi rwechirwere, kuti chinowanikwa nekukurumidza sei, uye kuti chinorapwa zvakanaka sei. Mamwe marudzi akakomba anogona kuuraya achiri mucheche. Asi mumarudzi mazhinji, nekurapwa kwakakodzera, hupenyu hwenguva dzose hunogoneka. Chiremba wako achakwanisa kukupa tsananguro yakanakisisa yemamiriro emwana wako.

Tinofanira kuona chiremba rini?

Kana mwana wako achigara achiratidza zviratidzo zveshuga shoma muropa zvatakakurukura kare (kubvunda, kudikitira, kucheneruka), kana ukaona kuti mwana wako haasi kukura zvakanaka kana kuti ane tsandanyama dzisina simba, iva nechokwadi chekuona chiremba wevana.

Nekuti GSD chirwere chakaoma, zvakakosha kutsvaga kurapwa kubva kuna chiremba ane ruzivo rwakadzama panyaya iyi. Chikwata chevanachiremba vemwana wako chichakutsigira nenzira dzese dzinogoneka panguva iyi.