Ðe wò ŋutilã mete ŋu dzraa sukli ɖo nyuie hezãnɛ oa? Mina míaƒo nu tso Glycogen Storage Disease (GSD) ŋu!

Ðe ɖeɖi tea ŋuwò alo viwòa ɣesiaɣia? Alo ɖe wòsena le ɖokuiwò me zi ɖeka be vuvɔ le wɔwɔm, fifia, eye taɖuamea? Ðe ɖeɖi tea ŋuwò kabakaba ne èle azɔli zɔm alo le fefem? Ɣeaɖewoɣi la, nusiawo ate ŋu atso kuxi sue aɖe si le alesi míaƒe ŋutilã kpɔa ŋusẽ dzi, si nye alesi wòzãa sukli, gbɔ. Egbea míele nu ƒom tso dɔléle aɖe si mebɔ o si ŋu ame sia ame le vevie ŋutɔ be wòanya nu tso eŋu. Emae nye glycogen storage disease , si wogayɔna le ɖɔktawo dome be `(Glycogen Storage Disease)` alo `(GSD)` kpuie.

Kpuie ko la, nukae ``(GSD)`` sia fia?

Enyo, azɔ mina míakpɔ nusi `(GSD)` sia nye ɖa. Kpuie ko la, enye nɔnɔme si me míaƒe ŋutilã mate ŋu azã glycogen alo adzrae ɖo nyuie o . Esiawo nye lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe dɔléle ƒomevi aɖe si ƒe dome wonyi, si fia be etso dzila gbɔ yi vi gbɔ.

Fifia ɖewohĩ ànɔ nusi glycogen nye ŋu bum. Glycogen nye mɔ si dzi míaƒe ŋutilã tona dzraa sukli, alo sukli, ɖo tso nuɖuɖu siwo míeɖuna me. Abe alesi nènyae ene la, sukli ye nye dzotsinu vevitɔ si naa ŋusẽ míaƒe ŋutilã. Míekpɔa sukli sia tso nuɖuɖu siwo míeɖuna siwo me carbohydrates le la me. Ŋutilã mehiã sukli siawo katã zi ɖeka o. Eyata, ŋutilãa dzraa sukli si sɔ gbɔ sia ɖo ɖe aklã kple lãmekawo me abe glycogen ene. Míate ŋu azãe emegbe ne míehiã ŋusẽ.

Woyɔa mɔnu si dzi míaƒe ŋutilã tona wɔa glycogen tso sukli me be glycogenesis . Nenema ke ne ŋutilãa gahiã ŋusẽ ake la, woyɔa mɔnu si dzi wotona gbãa glycogen sia si wodzra ɖo eye wògatrɔna zua sukli la be glycogenolysis . Enzyme vovovowo kpena ɖe ame ŋu le dɔ siawo evea siaa me.

Glycogen storage disease (GSD) dzɔna ne enzyme siawo dometɔ ɖeka alo esi wu nenema bu alo mele dɔ wɔm nyuie o. Esia fia be ŋutilãa mate ŋu azã glycogen si wodzra ɖo la atsɔ ado ŋusẽe alo alé sukli ƒe agbɔsɔsɔ ɖe ʋu me ɖe te nyuie o. Esia ate ŋu ahe kuxi geɖe vɛ, siwo dometɔ aɖewoe nye sukli ƒe agbɔsɔsɔ si bɔbɔ ɖe ʋu me enuenu (suklidɔ ƒe agbɔsɔsɔ si mede ame dzi o) , aklã ƒe gbegblẽ, kple lãmekawo ƒe gbɔdzɔgbɔdzɔ.

Ðe `(GSD)` ƒomevi vovovowo lia?

Ẽ, esi míaƒe ŋutilã zãa enzyme vovovowo tsɔ wɔa glycogen ŋudɔ ta la, GSD ƒomevi vovovowo li – 19 ya teti! Ðɔktawo nya nu geɖe tso ƒomevi aɖewo ŋu, gake wogale nu srɔ̃m tso bubuwo ŋu. GSD gblẽa nu le wò aklã alo lãmekawo ŋu koŋ. Gake ƒomevi aɖewo ate ŋu ahe kuxiwo vɛ le wò ŋutilã ƒe akpa bubuwo hã.

GSD ƒomevi ɖesiaɖe tsoa enzyme aɖe koŋ si kpɔa gome le glycogen ƒe dzraɖoƒe alo eƒe gbagbã me ƒe anyimanɔmanɔ gbɔ. Esia fia be enzyme la bu alo eƒe agbɔsɔsɔ dzi ɖe kpɔtɔ. Ɣeaɖewoɣi la, ɖɔktawo tsɔa enzyme si bu alo dzɔdzɔmeŋutinunyala si ke ɖe GSD ŋu zi gbãtɔ ƒe ŋkɔ na ƒomevi siawo.

Aleke gbegbee glycogen dzraɖoƒe ƒe dɔléle bɔe?

Le nyateƒe me la, glycogen dzraɖoƒe ƒe dɔléle nye nɔnɔme si mebɔ kura o . ``(GSD)`` ƒomevi I ``(GSD ƒomevi I (von Gierke dɔléle))``, si nye ƒomevi si bɔ wu, dzɔna le vidzidzi siwo ade ɖeka le 100,000 ɖesiaɖe me me. Eyata àte ŋu akpɔ alesi gbegbe esia mebɔ o.

Nukawoe nye GSD ƒe dzesiwo?

GSD ƒe dzesiwo ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ. Esia fia be ame eve siwo ŋu GSD ƒomevi ɖeka le gɔ̃ hã ƒe dzesiwo ate ŋu ato vovo. Zi geɖe la, GSD Ƒomevi I (si nye ƒomevi si bɔ wu) dzea dzesiwo ɖeɖefia gɔme ne vidzĩa xɔ ɣleti etɔ̃ va ɖo ene . Gake ƒomevi bubuawo dometɔ aɖewo ate ŋu aɖe dzesiwo afia emegbe, ɣeaɖewoɣi le ƒewuiwo me gɔ̃ hã.

Dzesi vevi eve siwo wokpɔna le nɔnɔme sia mee nye sukli ƒe ɖiɖi le ʋu me (suklidɔ ƒe agbɔsɔsɔ si mede ame dzi o) kple/alo ɖeɖiteameŋu le kamedede me, abe duƒuƒu alo titri ene (kamedede ƒe mɔmaɖemaɖeɖenuŋu).

Suklidɔ si bɔbɔ ɖe ʋu me (suklidɔ ƒe agbɔsɔsɔ si mede ame dzi o) nye ne sukli si le ʋu me ɖiɖi wu 70 mg/dL. Ne esia dzɔ la, àte ŋu akpɔ dzesiwo abe:

• Sese le ɖokuiwò me be yeƒe ŋutilã le ʋuʋum.
• Fifia kple vuvɔ ƒe seselelãme.
• Taɖuame , si nye ta si le tsatsam ƒe seselelãme.
• Sese le eɖokui me be yegbɔdzɔ eye agbe mele ye si o.
• Dzi ƒe tsotso.
• Ɣeaɖewoɣi la, dɔwuame si womate ŋu ado dzi atsɔ o, eye ame aɖewo yɔa esia be ``hyperphagia''.
• Tamebubu sesẽ, susu ƒe ŋutete manɔamesi.
• Dzimaɖitsitsi kple dzikudodo ƒe seselelãme.
• Pallor nye ŋutigbalẽa ƒe ɣie.
• Ɣeaɖewoɣi la, ne sukli ƒe agbɔsɔsɔ le ʋu me ɖiɖi akpa la , alɔ̃madɔmadɔ ate ŋu adzɔ.

Bu eŋu kpɔ ne viwò suea nɔ fefem nyuie eye kasia wòte ʋuʋu, fifia, eye mete ŋu le nu ƒom gɔ̃ hã oa? Aleke gbegbee nàse le ɖokuiwò me be yevɔ̃na le ɣeyiɣi ma me? Emae nye nusi suklidɔ ƒe dzidziɖedzi nye.

Tsɔ kpe ɖe esia ŋu la, woate ŋu akpɔ nɔnɔme bubuwo abe `(GSD)` hã:

• Lãmetsiwo ƒe ʋuʋu alo lãmekawo ƒe gbɔdzɔgbɔdzɔ.
• Ðeviwo ƒe tsitsi blewu kple lolo nyuie o.
• Aklã ƒe lolome (hepatomegaly).
• Lãmetsiwo ƒe ɖiɖi si bɔbɔ.
• Lãmetsiŋusẽ ƒe dzidziɖedzi le ʋu me (hyperlipidemia).

Nukae hea GSD vɛ?

Nusi koŋ gbɔ GSD tsonae nye domenyiŋusẽfianu ƒe tɔtrɔ siwo ƒe dome wonyi . Domenyiŋusẽfianu ƒe tɔtrɔ siawo kpɔa ŋusẽ ɖe enzyme siwo hiã be woatsɔ adzra glycogen ɖo ahazãe la ƒe dɔwɔwɔ dzi. Ðevi nyia domenyiŋusẽfianu ƒe tɔtrɔ siawo ƒe dome tso wo dada kple wo fofo siaa gbɔ.

GSD akpa gãtɔ ƒe domenyinyi ƒe ɖoɖo si nye autosomal recessive. Esia fia be hafi ɖevi nate ŋu axɔ nɔnɔmea la, ele be domenyiŋusẽfianu ƒe tɔtrɔa nanyi dome tso vidadaa kple fofoa siaa gbɔ.

Gake domenyinu si do ƒome kple X le ƒomevi aɖewo abe GSD Ƒuƒoƒo IX ene . Esia fia be domenyiŋusẽfianu ƒe tɔtrɔa le wò X domenyiŋusẽfianu dzi. Ne ŋutsu aɖe (si ƒe domenyiŋusẽfianu ɖeka koe le X domenyiŋusẽfianu me) ƒe tɔtrɔ sia le eŋu la, dɔlélea adze edzi. Ne nyɔnu aɖe ƒe tɔtrɔ sia le X domenyiŋusẽfianu ɖeka ŋu eye X domenyiŋusẽfianu evelia le lãmesẽ me la, zi geɖe la, maɖe dzesi aɖeke afia o, gake ate ŋu anye dɔlélea tsɔla.

Aleke mawɔ anya ne `(GSD)` le ŋunye?

Be viwòa ƒe ɖɔkta nanya kakaɖedzitɔe ne GSD le viwòa ŋu la, anɔ eme be abia be woawɔ dodokpɔ geɖe. Esi wònye be GSD nye nɔnɔme si mebɔ o ta la, ate ŋu axɔ ɣeyiɣi aɖe hafi woaɖe nɔnɔme bubuwo ɖa eye woanya GSD ƒomevi si tututu le wo si. Dodokpɔ siawo ate ŋu anye:

• Suklidɔ dodokpɔ le nutsitsidɔ me: Ne sukli si le ʋu me dzi ɖe kpɔtɔ le esi mèɖu naneke le ŋdi me o megbe la, ate ŋu anye GSD ƒe dzesi.
• Ketone ʋudodokpɔ : Ne ŋutilãa mete ŋu zã sukli o la, etɔa dzo ami hena ŋusẽkpɔkpɔ. Esia naa nusiwo woyɔna be ketones dona. Zi geɖe la, ɖevi siwo ŋu GSD le la kpɔa ketosis (ketones ƒe dzidziɖedzi le ʋu me) ƒe nɔnɔme.
• Basic metabolic panel: Esia ate ŋu ana woanya ɖevia ƒe lãmesẽ bliboa.
• Lipid panel: Esia hã le vevie elabena ʋumemi si sɔ gbɔ (hyperlipidemia) bɔ ɖe GSD me.
• Aklã ƒe dɔwɔwɔ dodokpɔ: Esiawo ate ŋu alé ŋku ɖe viwò ƒe aklã ƒe lãmesẽ ŋu. Ne nanewo li siwo mesɔ o la, ate ŋu anye GSD ƒe dzesi.
• Aɖuɖɔtoe me dzodzro: Aɖuɖɔtoe me dzodzro ate ŋu alé ŋku ɖe creatinine ƒe agbɔsɔsɔ (si fia be ayiku ƒe dɔwɔwɔ) kple uric acid ƒe agbɔsɔsɔ ŋu. Zi geɖe la, GSD ɖea uric acid ƒe agbɔsɔsɔ si sɔ gbɔ (hyperuricemia) fiana .
• Abdominal ultrasound: Esia ate ŋu akpɔe ɖa be ɖevia ƒe aklã lolo hã.
• Domenyiŋusẽfianu dodokpɔ: Esia léa ŋku ɖe kuxi siwo le domenyiŋusẽfianu siwo do ƒome kple enzyme vovovowo ŋu hã.

Togbɔ be domenyiŋusẽfianu ƒe dodokpɔ tɔxɛwo li woatsɔ ade dzesi GSD ƒomevi geɖe hã la, ɣeaɖewoɣi viwòa ƒe ɖɔkta ate ŋu aɖo aɖaŋu be woawɔ biopsy , si bia be woaɖe lãkusi sue aɖe tso aklã alo lãmeka me, atsɔ aɖo kpe dɔlélea dzi.

Aleke wowɔa atike na GSD?

Nublanuitɔe la, atike aɖeke meli na glycogen dzraɖoƒe ƒe dɔléle o. Dzesiwo dzi ɖuɖu koŋue nye atikewɔwɔa. Atikewɔwɔ ƒe tiatia vovovowo le GSD ƒomevi si le ŋuwò nu. Atikewɔwɔ ƒe mɔnu aɖewo ƒe kpɔɖeŋu aɖewoe nye esi:

• Mɔxexe ɖe sukli ƒe agbɔsɔsɔ si le ʋu me nu: Ne èna bli si womeɖa o alo nunyiametike ma tɔgbe le ɣeyiɣi nyuitɔ dzi eye wòsɔ gbɔ la, ate ŋu akpe ɖe ame ŋu be sukli ƒe agbɔsɔsɔ nanɔ ʋu me. Cornstarch nye carbohydrate si me nu vovovowo le si sesẽna vie na ŋutilãa be wòaɖu. Eyata ate ŋu akpɔ sukli ƒe agbɔsɔsɔ le ʋu me dzi ɣeyiɣi didi wu carbohydrates siwo le nuɖuɖu siwo woɖuna edziedzi me. Fifia atike aɖe si wodzrana si nyo wu gɔ̃ hã li si nɔa ŋutilãa me ɣeyiɣi didi wu. Esia ana hã be magahiã be nàfɔ le zã titina ana nuɖuɖu wò avu o.
• Sukli si bɔbɔ ɖe ʋu me dada: Ne wò ʋumesukli ɖiɖi le GSD ta la , ele be nàtsɔ carbohydrates adae enumake. Ne menye nenema o la, suklidɔa ate ŋu agblẽ ɖe edzi eye wòahe kuxiwo abe alɔ̃madɔmadɔ kple alɔ̃madɔmadɔ ene vɛ.
• Lãmetsi si sɔ gbɔ dzi ɖuɖu: Atike ƒomevi aɖe si woyɔna be statin kpena ɖe ame ŋu be wòaɖu ʋumemi ƒe agbɔsɔsɔ dzi.
• Uric acid ƒe agbɔsɔsɔ si sɔ gbɔ dzi ɖuɖu: Atike si nye allopurinol kpena ɖe ame ŋu be uric acid ƒe wɔwɔme dzi ɖena kpɔtɔna le ŋutilãa me.

Woate ŋu atsɔ enzyme replacement therapy (ERT) ada GSD ƒomevi aɖewo (le kpɔɖeŋu me, GSD ƒomevi II) . Zi geɖe la, wonaa esia abe IV-dodo ene. Wogale numekuku wɔm be woakpɔe ɖa be woate ŋu azã ERT na GSD ƒomevi bubuwo hã.

Ne aklãa gblẽ vevie le GSD ta la, ate ŋu ahiã be woado aklãa .

Ðe woate ŋu axe mɔ ɖe glycogen dzraɖoƒe ƒe dɔléle nua?

Esi wònye be glycogen dzraɖoƒe ƒe dɔlélewo nye domenyiŋusẽfianu (domenyinyi) ƒe nɔnɔmewo ta la, naneke meli míate ŋu awɔ atsɔ axe mɔ ɖe wo nu o.

Ne GSD le wò ƒomea me, eye nèle vi dzidzi ŋu bum la, anyo be nàdi domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo be nànya nenye be wò hãe nye domenyiŋusẽfianu ƒe tɔtrɔ sia tsɔla.

Nukae nye amesi ŋu `(GSD)` le ƒe lãmesẽ ƒe nɔnɔme?

Le GSD ƒomevi akpa gãtɔ me la, dɔlélea didi kaba kple edzikpɔkpɔ nyuie ate ŋu ana dɔnɔa ƒe nyagblɔɖi nanyo ɖe edzi. Gake GSD ƒomevi aɖewo dzi kpɔkpɔ sesẽna wu. Wò ɖɔkta ate ŋu ana nàkpɔ nusi nàkpɔ mɔ na nyuie wu.

Nukawoe nye kuxi siwo ate ŋu ado tso GSD me?

GSD ate ŋu ahe kuxi vovovowo vɛ. Enɔ te ɖe:

• Le `(GSD)` ƒomevi la dzi.
• Ne wohe dɔlélea didi ɖe megbe.
• Dɔlélea, ne womekpɔ egbɔ nyuie o la, ayi edzi.

Le kpɔɖeŋu me, kuxi siwo ateŋu ado mo ɖa le ``(GSD)`` Ƒomedodo I si womewɔ atike na o ta dometɔ aɖewoe nye:

• Ƒu ƒe kpekpeme dzi ɖe kpɔtɔ, ƒu ƒe gbagbã bɔbɔe, kple ƒumeŋuɖui .
• Ƒewuiwo ƒe heheɖemegbe.
• Gout.
• Ayikudɔléle.
• Aklã me ʋusɔgbɔdɔ.
• Aklã ƒe dɔdzẽ siwo menye kansa o (aklã me adenomas).
• Nyɔnu siwo ŋu polycystic ovary syndrome (PCOS) le.
• Dɔdzẽ si le dɔgboa me (Pancreatitis).
• Sukli ƒe agbɔsɔsɔ si bɔbɔ ɖe ʋu me enuenu ate ŋu agblẽ nu le ahɔhɔ̃a ƒe dɔwɔwɔ ŋu.

Nukae nye ame si ŋu `(GSD)` le ƒe agbenɔƒe?

Ame si ŋu glycogen storage disease (GSD) le ƒe agbenɔƒe toa vovo le eƒe ƒomevi, alesi wokpɔ dɔlélea kabae, kple alesi wokpɔ egbɔ nyuie nu. Wo dometɔ aɖewo ate ŋu awu ame le vidzĩme, gake bubuwo ya ate ŋu ana ame nanɔ agbe si sɔ. Wò ɖɔkta ate ŋu aɖo aɖaŋu nyuitɔ kekeake na wò le esia ŋu.

Ɣekaɣie wòle be makpɔ ɖɔkta?

Ne wò alo viwòa kpɔ lãmekawo ƒe gbɔdzɔgbɔdzɔ alo suklidɔ ƒe dzesi siwo nɔa anyi ɖaa le ʋu me la, yi ɖɔkta gbɔ enumake.

Glycogen dzraɖoƒe ƒe dɔlélewo nye nɔnɔme siwo mebɔ o eye wosesẽ ŋutɔ. Eyata ne anya wɔ la, anyo wu be nàdi ɖɔkta si nya nu tso dɔléle sia kple alesi woadae ŋu. Viwòa ƒe atikewɔlawo ƒe ƒuƒoƒo anɔ kpli wò le afɔɖeɖe ɖesiaɖe me be woakpe ɖe ŋuwò nàtso nya me le atike nyuitɔ si woawɔ na wo ŋu.

Gbedasi si Wotsɔ Yi Aƒeme:

Eyata, mele mɔ kpɔm be fifia miese nusi ŋu míeƒo nu tsoe, Glycogen Storage Disease (GSD) gɔme nyuie wu. Togbɔ be nyati sia nye nya si me kɔ vie hã la, ele vevie ŋutɔ be míaɖo ŋku nya veviawo dzi.

Ðo ŋku edzi be: GSD nye dɔléle siwo mebɔ o, siwo ƒe dome míenyi, siwo nana ŋutilãa mezãa glycogen (míaƒe ŋutilã ƒe suklidzraɖoƒe) nyuie o.

• Dzesi vevitɔwo: Sukli ƒe agbɔsɔsɔ si medea ʋu me o enuenu (suklidɔ ƒe agbɔsɔsɔ si mede ame dzi o) kple ɖeɖiteameŋu kabakaba le kamedede me.
• Nusi gbɔ wòtso: Enzyme ƒe anyimanɔmanɔ si tso domenyiŋusẽfianu ƒe tɔtrɔ gbɔ.
• Dɔlélea didi: Ʋudodokpɔ, aɖuɖɔ dodokpɔ, ultrasound, domenyiŋusẽfianu dodokpɔ, kple ɖewohĩ ŋutilã ƒe akpa aɖewo ɖeɖeɖa.
• Atikewɔwɔ: Dzesiwo dzi ɖuɖue nye nu vevitɔ. Nuɖuɖu (vevietɔ bli ƒe ʋeʋẽ), atike ne ehiã, kple enzyme replacement therapy (ERT) na ƒomevi aɖewo.
• Nu vevitɔ kekeake: Ne èkpɔ dɔlélea kaba eye nèkpɔ egbɔ nyuie la, ate ŋu akpe ɖe ŋuwò nànɔ agbe si sɔ wu sã. Ne dzesiwo le ŋuwò la, mègahe atikewɔlawo ƒe aɖaŋuɖoɖo didi ɖe megbe o.

Míele mɔ kpɔm be nyatakaka siawo aɖe vi na wò. Nɔ lãmesẽ me!