Yu pikin kin taya ɔltɛm? Yu tink se in blɔd shuga nɔ bɔku? Dis kin bi bikɔs ɔf Glycogen Storage Disease (GSD) .

Yu smɔl pikin kin fil taya ɛn taya ɔltɛm? Yu pikin kin tinap smɔl na di sayd we ɔda pikin dɛn we gɛt di sem ej de rɔn rawnd ɛn ple? Ɔ yu pikin kin tɔn blɛsin, swet, ɛn shek shek wantɛm wantɛm we i de it? As mama ɔ papa, i nɔmal fɔ mek yu fil bad bad wan we yu si dɛn tin ya. Pan ɔl we bɔrku rizin kin de fɔ dis kayn sik, tide wi go tɔk bɔt wan sik wae nɔr kin bɔrku bɔt wae rili impɔtant wae kin mek pɔrsin gɛt dis kayn sik. Dat na Glycogen Storage Disease, ɔ (GSD) fɔ shɔt tɛm.

Fɔ tɔk am simpul wan, wetin na Glycogen Storage Disease (GSD)?

Okay, mek wi ɔndastand dis rili simpul wan. Imajin se wi bɔdi tan lɛk motoka. Moto nid petrol fɔ mek i ebul fɔ rɔn. Semweso, wi bɔdi nid trɛnk fɔ du ɔl dɛn tin ya, fɔ rɔn, jomp, tink, ɛn pre. Di men tin we de mek wi bɔdi gɛt pawa na glukɔs , we na jɔs shuga. Wi kin gɛt dis glukɔs frɔm di it dɛn we gɛt kabɔhaydrɛt we wi kin it, lɛk rays, bred, ɛn pɔt.

Naw, we wi de it, wi bɔdi kin gɛt mɔ glukɔs pas aw i nid fɔ gɛt ɛnaji da tɛm de. So wetin wi smat bɔdi de du? I de kip da ekstra glukɔs de fɔ yuz leta. I tan lɛk se wi de kip pawa bank chaj na wi fon. dis we aw dεn de kip glukכs dεn kכl am glycogen . dis glycogen de mכst na wi liva εn mכsul dεm .

We wi nɔ de it, ɔ we wi de spɛn bɔku ɛnaji, lɛk we wi de du ɛksɛsayz, wi bɔdi kin chenj da glycogen we bin dɔn kip bak to glukɔs ɛn yuz am as ɛnaji.

na dis ol prכsεs de, dat na fכ kכnvכlt glukכs to glycogen εn glycogen bak to glukoz, wi bכdi nid spεshal tכp protin. Wi kin kɔl dɛn ɛnzaym dɛn . I tan lɛk se yu gɛt wokman dɛn fɔ wok na faktri.

Glycogen Storage Disease (GSD) na wan sik we kin apin we wan ɔ mɔ pan dɛn ɛnzaym ya nɔ de ɔ nɔ de wok fayn na wi bɔdi. dis min se di bכdi nכ de ebul fכ stכr di glycogen fayn fayn wan כ yus di glycogen we dεn stכr we nid de. Dis kin mek yu gɛt prɔblɛm dɛn lɛk we yu blɔd shuga nɔ bɔku (hypoglycemia) ɛn yu mɔsul dɛn wik.

Ɔmɔs kayn GSD de?

Yɛs. as wi bin dכn tכk bכt, bכku kayn εnzym dεm de we de involv insay glycogen mεtabolism. so, bכku tכp dεm de fכ GSD dipכnt pan di dεfisit fכ εvri wan pan dεn εnzym dεm. I pas 19 kayn dɛn we dɛn dɔn no te naw. Pan ɔl we wi nɔ no bɔku tin bɔt dɛn ɔl, wi ɔndastand sɔm pan di men kayn dɛn gud gud wan.

Dɛn kayn GSD ya kin afɛkt di liva ɔ di mɔsul dɛn mɔ.. Bɔt sɔm kayn dɛn kin mek prɔblɛm bak na ɔda pat dɛn na di bɔdi. Dɔktɔ dɛn kin kɔl dɛn kayn tin ya bay di nem fɔ di ɛnzaym we de insay di sik ɔ di sayɛnsman we fɔs kam fɔ no di sik. Fɔ dɛn wan ya, di wan we kin bɔku pas ɔl na GSD tayp I (GSD tayp I), we dɛn kin kɔl bak von Gierke sik.

Wetin na di men sayn dɛm fɔ GSD? Aw wi kin no am?

GSD simptom kin difrɛn difrɛn wan fɔ di kayn sik ɛn ivin bitwin pipul dɛm wae gɛt di sem kayn sik. Di kayn GSD we kin bɔku pas ɔl, we na tayp I, kin bigin fɔ apia we di pikin ol tri to 4 mɔnt . Bɔt sɔm kayn kin kam wit sɔm kayn sik leta, sɔmtɛm ivin wae dɛn dɔn yɔŋ.

De tu men ɛn kɔmɔn sayn dɛm na:

1. Di blɔd shuga we de dɔŋ (haypoglycemia) .

2. Fɔ taya izi wan we yu de du ɛksɛsayz ɔ ple (exercise intolerance) .

Lɛ wi luk dɛn sayn ya smɔl smɔl.

Wetin mek GSD de divɛlɔp? Yu tink se na sik we pɔsin kin gɛt frɔm in mama ɛn papa?

Yɛs, GSD na sik we pɔsin kin gɛt frɔm in mama ɛn papa . Dis min se di sik kin kam bikɔs di jin dɛn we mama ɛn papa kin gɛt to pikin dɛn kin chenj.

כl di GSD dεm de inhεrit insay wan כtosom rεsεsiv patεn. Fɔ tɔk am simpul wan, dis min se fɔ mek pikin gɛt di sik, in mama ɛn papa ɔl tu fɔ gɛt di jin we dɔn chenj fɔ di sik. If na wan mama ɔ papa nɔmɔ gɛt di jin, di pikin go bi pɔsin we gɛt di sik ɛn i nɔ go sho di sayn dɛn.

כltu, fכ tכp dεm we rili rεs, lεk GSD tayp IX, dεn kin inhεrit insay wan patεn we dεn kכl X-linked inheritance . dis min se di jin fכ di sik de pan di X kromozom. If bɔbɔ gɛt dis jin, i go mɔs gɛt sɔm sayn dɛn.

Aw di dɔktɔ kin no dis sik klia wan?

Bikɔs GSD na wan sik we nɔ kin apin so ɔltɛm, i kin tek sɔm tɛm fɔ no if i gɛt am. Fɔs, di dɔktɔ go nid fɔ mek shɔ se no ɔda tin nɔ de we kin apin. Afta yu aks yu pikin in sik ɛn chɛk yu pikin, bɔku tɛm di dɔktɔ go tɛl yu fɔ du sɔm tɛst dɛn.

Dɛn tin ya kin bi:

• Fast blɔd shuga tɛst: Fɔ chɛk di blɔd shuga lɛvɛl bifo yu it brɛf. If di shuga lɛvɛl rili smɔl, i kin bi sayn fɔ GSD.
• di kεtכn bכdi tεst: We di bכdi nכ ebul fכ yuz glukכs fכ εnεji, i de bכn fεt fכ εnεji. Da tɛm de, dɛn kin mek kemikal dɛn we dɛn kɔl ketɔn. di kεton lεvεl na di bכdi kin εlevεt pan pikin dεm we gεt GSD.
• Fɔ chɛk di blɔd kɔlɔstrel (Lipid panɛl) ɛn di yurik asid lɛvɛl: Bɔku tɛm dɛn lɛvɛl ya kin go ɔp pan pikin dɛn we gɛt GSD.
• Test we di liva de du: Dɛn tɛst ya kin ɛp fɔ no if di liva dɔn pwɛl.
• כltra saund na di bכdi: Dis de εp fכ no if di liva dכn big (hεpatomegaly).
• Jɛnɛtik tɛst: Dis na di bɛst we fɔ kɔnfirm di sik. Dɛn kin tek blɔd sɛmpul fɔ chɛk fɔ si if di jin dɛn we de mek ɛnzaym dɛn we gɛt fɔ du wit GSD dɔn chenj.

Sɔntɛnde, fɔ mek yu shɔ se yu no di sik 100%, di dɔktɔ kin se yu fɔ tek smɔl pat pan di liva ɔ di mɔsul fɔ chɛk am (bayopsi) .

Wetin na di tritmɛnt dɛm fɔ dis? Yu tink se i kin mɛn am kpatakpata?

I sɔri fɔ no se, no mɛrɛsin nɔ de yet fɔ GSD. Bɔt nɔ wɔri.Tritmεnt dεm de we rili fayn we kin kכntrכl di sik dεm εn εp di pikin fכ liv nכmal layf. Di we aw dɛn kin trit am kin difrɛn fɔ di kayn sik.

Di men gol na fɔ mek di blɔd shuga nɔ go dɔŋ bad bad wan ɛn fɔ mek i kɔntinyu fɔ de na stebul lɛvɛl.

Na sɔm we dɛn fɔ trit am:

1. Fɔ it bɔku tɛm: Ɛspɛshali yɔŋ pikin dɛn, dɛn kin tray fɔ mek dɛn blɔd shuga nɔ chenj bay we dɛn de it dɛn ɛvri sɔm awa.

2. Yuz Kɔnstach we Nɔ Kuk: Dis na rili impɔtant tritmɛnt we dɛn kin yuz fɔ mɛn GSD. Kɔnstach na kɔmpleks kabɔhaydrɛt we nɔ kin izi fɔ wi bɔdi fɔ dayjɛst. So we dɛn sɔlv smɔl kɔnstach insay wata ɛn drink am, i kin pul glukɔs smɔl smɔl insay di blɔd. Dis kin mek di blɔd shuga lɛvɛl stebul fɔ sɔm awa. Dis we ya kin rili ɛp fɔ mek yu nɔ gɛt bɔku blɔd shuga mɔ na nɛt .

3. Trit haypoglycemia kwik kwik wan: As soon as di sayn dɛm fɔ hapoglycemia sho, dɛn fɔ gi glukɔs tablɛt ɔ drink we gɛt shuga fɔ mek di blɔd shuga kam bak kwik kwik wan. If yu delay dis kin mek yu gɛt siriɔs prɔblɛm lɛk fɔ gɛt sik.

4. Tritmɛnt fɔ ɔda kɔmplikeshɔn dɛn: Fɔ kɔndishɔn dɛn lɛk ay kɔlɔstrel lɛvɛl (hayperlipidemia) ɛn ay yurik asid lɛvɛl (hayperuricemia), di dɔktɔ go gi yu di mɛrɛsin dɛn we yu nid (e.g. allopurinol, statin).

5. Enzyme Replacement Therapy (ERT): Fכ sכm kayn GSD, lεk Pompe sik, tritmεnt de we de riples di εnzym we nכ de tru IV infushכn. Dɛn stil de stɔdi dis.

6. Liva Transplant: Insay kes dɛm we di liva dɔn pwɛl bad bad wan bikɔs ɔf GSD, i kin nid fɔ transplant liva as las tin.

Us kɔmplikɛshɔn kin kam wae yu de liv wit dis sik?

If dɛn nɔ no di sik kwik ɛn dɛn nɔ de manej am fayn, difrɛn prɔblɛm dɛn kin apin. Dɛn tin ya kin difrɛn bak fɔ di kayn sik. Fɔ ɛgzampul, GSD tayp I we dɛn nɔ trit kin mek prɔblɛm dɛn lɛk:

• We di bon dɛn wik ɛn i izi fɔ brok (ɔstioporosis) .
• Dilay we pɔsin kin rich fɔ bɔn pikin
• Gout we pɔsin kin gɛt
• Kidni sik
• Liva tכmכro dεm we nכ gεt kεnsar (hεpatik adenomas) .
• Polisistik Ɔvari Sindrom (PCOS) .
• If yu blɔd shuga nɔ bɔku bɔku tɛm, dat kin afɛkt di we aw yu bren de wok.

Bɔt mɛmba se, dɛn kin ebul fɔ avɔyd bɔku pan dɛn prɔblɛm ya if dɛn no if dɛn gɛt di sik kwik kwik wan, dɛn trit dɛn fayn fayn wan, ɛn dɛn kin mɛn dɛn.

Wetin na di layf we pɔsin we gɛt GSD kin liv?

Dis kin dipen pan di kayn sik, aw dɛn kin no am kwik kwik wan, ɛn aw dɛn kin mɛn am fayn fayn wan. Sɔm kayn bad bad tin kin kil pɔsin we i smɔl. Bɔt pan bɔku kayn dɛn, if dɛn trit am fayn, i pɔsibul fɔ lɛ pɔsin liv nɔmal layf. Yu dɔktɔ go ebul fɔ gi yu di bɛst ɛksplen fɔ yu pikin in sik.

Ustɛm wi fɔ go to dɔktɔ?

If yu pikin de sho ɔltɛm di sayn dɛn we de sho se i nɔ gɛt bɛtɛ blɔd shuga we wi bin dɔn tɔk bɔt (we i de shek, i de swet, i de shayn), ɔ if yu fil se yu pikin nɔ de gro fayn ɔ in mɔsul dɛn wik, mek shɔ se yu go to dɔktɔ we de mɛn pikin dɛn.

Bikɔs GSD na kɔmpleks sik, i impɔtant fɔ go to dɔktɔ we gɛt spɛshal no bɔt dis. Yu pikin in mɛdikal tim go sɔpɔt yu pan ɔltin we i pɔsibul insay dis joyn.