Ðe aɖinuwo le ƒoƒom ɖe wò lãmenugbagbeviwo mea? Esia ku ɖe Lysosomal Storage Diseases ŋu!

Èse Lysosomal Storage Diseases, alo LSDs ŋu nya kpɔa? Esiawo mebɔ kura o, si fia be ame akpa gãtɔ mekpɔa wo o, domenyiŋusẽfianu ƒe nɔnɔmewo. Kpuie ko la, dɔléle siawo nana nu siwo míedi o, siwo ate ŋu anye aɖi la ƒoa ƒu ɖe míaƒe ŋutilã ƒe lãmenugbagbeviwo me. Mina míaƒo nu tso esia ŋu tsitotsito vie egbea, alo?

Nukae nye enzyme kple lysosomes? Aleke wowɔa dɔe?

Tsɔe be lãmenugbagbevi ɖesiaɖe si le wò ŋutilã me le abe dɔwɔƒe sue aɖe ene. Le dɔwɔƒe siawo me la, dɔwɔƒe tɔxɛ aɖe si woyɔna be ‘Lysosome’ li. Lysosome siawo wɔa dɔ abe nusi wotsɔna dzraa nu ɖo le míaƒe aƒea me ene. Be woakpe ɖe wo ŋu woawɔ dɔ sia nyuie la, dɔwɔla tɔxɛ siwo woyɔna be ‘Enzymes’ le wo si. Enzyme siawoe nye nu vovovo siwo vaa míaƒe lãmenugbagbeviwo me, le kpɔɖeŋu me:

• Carbohydrates (ema fia nuwo abe fibre, starch, kple sukli ene) .
• Lipids (ami ƒomeviwo) .
• Protein-wo
• Lãmenugbagbevi ƒe akpa xoxo siwo ŋu viɖe aɖeke mele o

Wokpena ɖe ame ŋu be wogbãna, wogbãna, eye woɖua nu mawo tɔgbe. Míeyɔa nuwɔna sia be lãmenugbagbeviwo ƒe dɔwɔwɔ . Eyata, enzyme kple lysosome siawo wɔa dɔ ɖekae be míaƒe lãmenugbagbeviwo nanɔ dzadzɛ eye woanɔ lãmesẽ me.

Eyata nukae dzɔna le lysosomal storage diseases (LSDs) me?

Azɔ bu dɔwɔla tɔxɛ aɖe si le dɔwɔƒe ma ƒe dzadzɛnyenyedɔwɔƒe si ŋu míeƒo nu tsoe va yi ŋu kpɔ, nukae dzɔna ne enzyme aɖe mele dɔ wɔm nyuie o, alo ne enzyme ma mele eme kura o? Ɣemaɣie kuxia dzea egɔme.

Emae nye nusi dzɔna le amesi ŋu lysosomal storage disease (LSD) le ƒe ŋutilã me. Enzyme aɖe, alo nu bubu aɖe si kpena ɖe enzyme ma ŋu wòwɔa dɔ (enzyme activator alo modifier) ​​mele wo si o. Emegbe, lysosome mawo mate ŋu agbã nuwo abe ami kple sukli siwo wòle be woagbã nyuie o.

Eyata nukae dzɔna? Nu siawo siwo womate ŋu agbã o la dzea ƒoƒo ƒu ɖe lãmenugbagbeviawo me. Ele abe gbeɖuɖɔ gbogbo aɖe ene. Le ɣeyiɣi aɖe megbe la, nu siawo va zua aɖi eye wogblẽa nu le lãmenugbagbeviawo ŋu. Nu gbegblẽ sia ate ŋu akaka eye wòagblẽ nu le míaƒe ŋutilã ƒe ŋutinu vovovowo ŋu. Le kpɔɖeŋu me:

• Hɔhɔ̃
• Titina Lãmetsiŋusẽ ƒe Dɔwɔɖoɖo
• Dzi
• Ƒumeŋuɖui ƒe Dɔwɔɖoɖo
• Ŋutigbalẽ

Esiae dzɔna le lysosomal storage disease (LSD) me, ne míagblɔe kpuie.

Ðe lysosomal storage diseases (LSD) ƒomevi aɖewo lia?

Ẽ, vaseɖe fifia la, numekulawo de dzesi lysosomal storage diseases (LSD) ƒomevi siwo wu 50. Wogale ƒomevi yeyewo dim kokoko. Esesẽ ŋutɔ, alo?

Zi geɖe la, woate ŋu ama dɔléle siawo ɖe hatsotso vevi etɔ̃ me le enzyme si mehiã o nu.

Ami ƒe agbɔsɔsɔme si wozãna

Dɔléle sia ƒomevi dzɔna ne enzyme si hiã be wòagbã ami me mele ŋutilãa me o. Kpɔɖeŋu aɖewoe nye:

• Cholesteryl Ester Dzraɖoƒe Dɔléle
• Wolman ƒe Dɔléle

Mucopolysaccharidoses ƒe dɔwɔwɔ

Esiawo dzɔna ne enzyme si hiã be wòagbã glycosaminoglycans, si nye sukli ƒe molecule sesẽ ƒomevi aɖe, bu. Kpɔɖeŋu aɖewoe nye:

• Adela ƒe Dɔléle
• Hurler ƒe Dɔléle

Sphingolipidoses ƒe dɔlélewo

Esia ƒomevi dzɔna ne enzyme aɖe si gblẽa ami tɔxɛ aɖe si woyɔna be sphingolipids me meli o . Sphingolipid siawo nye nusiwo wɔa dɔ tɔxɛwo, abe míaƒe lãmenugbagbeviwo ƒe anyime takpɔkpɔ ene. Dɔléle aɖewo siwo dzena le hatsotso sia mee nye:

• Fabry ƒe Dɔléle
• Gaucher ƒe Dɔléle
• Krabbe Dɔléle / Globoid Cell Leukodystrophy ƒe dɔléle
• Metachromatic Leukodystrophy ƒe dɔléle si nye Metachromatic
• Niemann-Pick Dɔléle (NP) .
• Sandhoff ƒe Dɔléle
• Tay-Sachs ƒe Dɔléle

LSD ƒomevi bubuwo

Tsɔ kpe ɖe hatsotso vevi siawo ŋu la, LSD ƒomevi bubuwo hã li. Le kpɔɖeŋu me:

• Batten ƒe Dɔléle
• Cystinosis ƒe dɔléle
• Danon ƒe Dɔléle
• Pompe Dɔléle

Èkpɔa, dɔléle siawo katã tsoa enzyme aɖe koŋ ƒe anyimanɔmanɔ gbɔ. Dɔlélea kple eƒe ŋusẽkpɔɖeamedziwo toa vovo le enzyme si mehiã o nu.

Amekae ate ŋu axɔ lysosomal storage diseases (LSD) siawo? Aleke gbegbee wobɔe?

Le nyateƒe me la, ame sia ame ate ŋu axɔ lysosomal storage disease (LSD). Gake to vovovo me tɔwo kple nuto aɖewo mee dɔlélea le wu. Le kpɔɖeŋu me, LSD ƒomevi aɖewo bɔ ɖe Ɣedzeƒe Europa Yudatɔwo kple Finlandtɔwo dome wu.

Dɔléle siawo bɔ ale gbegbe be ame 40,000 va ɖo 60,000 ɖesiaɖe dometɔ ɖeka koe LSD le. Esia fia be esiawo nye dɔlélewo ƒe hatsotso aɖe si mebɔ kura o. Esia tae ame geɖe mese wo ŋkɔ gɔ̃ hã o.

Nukae hea lysosomal storage diseases (LSDs) vɛ?

Lysosomal storage diseases (LSDs) nye lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe dɔléle siwo ƒe dome wonyi tso wo dziɣi eye domenyiŋusẽfianu gbɔe wòtsona . Ne míagblɔe tututu la, wotsɔa nusiawo dometɔ akpa gãtɔ tso dzidzime yi dzidzime be ‘ Autosomal Recessive Disorders’ .

Fifia ɖewohĩ èle nusi ‘auto-retard’ fia ŋu bum. Kpuie ko la, ele ale:

Zi geɖe la, míexɔa domenyiŋusẽfianu ɖesiaɖe ƒe kɔpi ɖeka tso dzila ɖesiaɖe gbɔ. Be woato LSD vɛ la, .Ele be ɖevia nanyi dɔlélea ƒe domenyiŋusẽfianu ƒe kɔpi si wogbugbɔ trɔ la dome tso dadaa kple fofoa siaa gbɔ. Nu vevitɔe nye be domenyiŋusẽfianu si wogbugbɔ trɔ la tsɔlawo koe dzila siawo nye. Esia fia be LSD mele wo si o, gake domenyiŋusẽfianu si ate ŋu ahe dɔlélea vɛ la le wo si.

Eyata ne dzila eveawo siaa nye vitsɔlawo la, mɔnukpɔkpɔ siwo li ne wodzi vi lae nye esi:

• Mɔnukpɔkpɔ li 25% (1 le 4 ɖesiaɖe me) be ɖevia nanɔ lãmesẽ me evɔ manyi domenyiŋusẽfianu aɖeke si wotrɔ ƒe dome o.
• Mɔnukpɔkpɔ li 25% (1 le 4 ɖesiaɖe me) be ɖevi naxɔ LSD (ne wonyi domenyiŋusẽfianu si wogbugbɔ trɔ la ƒe dome tso dzila eveawo siaa gbɔ).
• Mɔnukpɔkpɔ li 50% (1 le 2 ɖesiaɖe me) be ɖevia nanye amesi tsɔa dɔlélea ƒe dzesi aɖeke o, abe dzilawo ene (ne wonyi domenyiŋusẽfianu si woɖɔ la ƒe dome tso dzila ɖeka ko gbɔ).

Èse egɔmea? Esia adze nu sesẽ vie, gake aleae domenyiŋusẽfianu ƒe dɔlélewo kakanae.

LSD ƒomevi aɖewo li siwo woyɔna be X-linked Inheritance . Esia fia be domenyiŋusẽfianu si naa dɔlélea le X domenyiŋusẽfianu dzi, eyata ɖevi (vevietɔ ŋutsuvi) ate ŋu anyi dɔlélea ƒe dome tso dadaa ɖeɖeko gbɔ. Danon Dɔléle, Fabry Dɔléle, kple Hunter Syndrome nye dɔléle mawo tɔgbe etɔ̃.

Tsɔ kpe ɖe domenyiŋusẽfianu siawo ŋu la, ɣeaɖewoɣi la, nu siwo gbɔna hã ate ŋu ana LSD-tikewo nagado gã ɖe edzi alo woava dzɔ:

• Dzoxɔxɔ le ŋutilã me.
• Oxidative stress nye kadodo si le ŋutilã kple free radicals , siwo nye nusiwo dona tso lãmenugbagbeviwo ƒe dɔwɔwɔ me dome.

Zi geɖe la, LSD-tikewo dzena le fufɔɣi alo le vidzidzi megbe kpuie. Gake ƒã ŋutɔ la, woate ŋu adze egɔme tso ame tsitsiwo hã gbɔ. Zi geɖe la, LSD siwo dzea egɔme tso ɖevime la nu sẽna wu, gake esiwo dzea egɔme emegbe le woƒe tsitsime ya mesẽna boo o.

Nukae nye lysosomal storage diseases (LSDs) ƒe dzesiwo?

Dɔléle siawo ƒe dzesiwo ate ŋu ato vovo ŋutɔ. Enɔ te ɖe:

• Le lãmenugbagbevi alo ŋutinu siwo ŋu LSD gblẽ nu le nu.
• Enɔ te ɖe LSD ƒomevi si wònye dzi.

Gake dzesi ʋɛ aɖewo li siwo bɔ ɖe LSD ƒomevi akpa gãtɔ me. Esiawoe nye:

• Ŋutinu siwo le ƒodo me, abe ayiku, aklã, dɔgbo, dɔgbo, alo dɔgbo ene ƒe dzidziɖedzi si mesɔ o (visceromegaly).
• Ƒumelãwo ƒe lãmekawo trɔna.
• Mo ƒe dzedzeme va nɔa ƒuƒuie vie. Le kpɔɖeŋu me, ŋgonu si do ɖe gota, ŋɔti si le gbadzaa, kple nuyi siwo lolo .
• Ðevia ƒe tsitsi ƒe megbetsitsi. Esia ate ŋu adzi ɖe edzi vivivi le ɣeyiɣi aɖe megbe.

Ne dzesi siawo dometɔ ɖeka alo esi wu nenema le viwòa ŋu la, ele vevie ŋutɔ be nàyi ɖɔkta gbɔ enumake aɖaɖo aɖaŋu na wò.

Aleke wokpɔa lysosomal storage diseases (LSDs) ƒe dɔlélewo?

Ðɔktawo ate ŋu ade dzesi lysosomal storage diseases (LSDs) le fufɔɣi. Wozãa dodokpɔ siwo wowɔna tsɔ doa ame kpɔ do ŋgɔ na vidzidzi . Le kpɔɖeŋu me:

• Amniocentesis (tsi si le vidzidɔa me dodokpɔ) .
• Chorionic Villus Sampling (vidzidɔa ƒe akpa aɖe dodokpɔ) .

Be woakpɔe ɖa be LSD le vidzĩ yeyewo me hã la, woate ŋu ado ʋu kpɔ be woakpɔ enzyme siwo mesɔ gbɔ o hã. Ɣeaɖewoɣi la, woɖea ʋu sue aɖe (ʋu ƒe teƒe ƒuƒuwo) le asibidɛ aɖe me, kakaa ɖe pepa tɔxɛ aɖe dzi, gblẽnɛ ɖi wòƒuna, eye emegbe wodoa wo kpɔna be enzymewo le eme hã.

Ne èsusu be LSD le ye alo viwò ŋu la, woate ŋu aɖo wò ɖe lãmenugbagbeviwo ƒe dɔwɔwɔ ŋuti nunyala alo ɖeviwo ƒe lãmenugbagbeviwo ƒe dɔwɔwɔ ŋuti nunyala gbɔ . Le ɖeviwo kple ame tsitsiwo siaa gome la, ɖɔkta ate ŋu aɖo aɖaŋu be woawɔ dodokpɔwo abe:

• Ʋudodokpɔ: Kpɔ enzyme ƒe agbɔsɔsɔ ɖa.
• Domenyiŋusẽfianu dodokpɔ: Kpɔe ɖa be tɔtrɔ aɖewo le wò domenyiŋusẽfianuwo me hã.
• Punch biopsy: Tsɔ ŋutigbalẽ sue aɖe eye nàlé ŋku ɖe domenyiŋusẽfianu ƒe tɔtrɔwo ŋu hã.
• Aɖuɖɔtoe dodokpɔ / aɖuɖɔtoe me dzodzro: Dzidze substrate siwo enzymewo zãna zi geɖe.

Tsɔ kpe ɖe esia ŋu la, woate ŋu awɔ dodokpɔ bubuwo atsɔ akpɔe ɖa be wò ŋutinuwo gblẽ hã. Le kpɔɖeŋu me:

• Ʋu Xexlẽme Bliboe
• Ŋku dodokpɔ
• Tosese dodokpɔ
• Dzidodokpɔwo: abe echocardiogram kple electrocardiogram (EKG) ene .
• Ayikuwo ƒe dɔwɔwɔ dodokpɔwo
• Aklã ƒe dɔwɔwɔ dodokpɔwo
• MRI-dɔdamɔnu (MRI) .
• X-ray-wo wɔwɔ

Wozãa dodokpɔ siawo tsɔ nyaa nusi tututu dɔlélea nye kple alesi gbegbe wòsẽe.

Aleke wodaa lysosomal storage diseases (LSDs) ƒe dɔlélewoe?

Zi geɖe la, wodaa lysosomal storage diseases (LSDs) le atikewɔƒe tɔxɛwo. Atike aɖeke meli na dɔléle siawo o. Gake atikewɔmɔnu aɖewo li siwo ate ŋu akpe ɖe ame ŋu wòaɖu dzesiawo dzi eye wòaɖe ŋutinuwo ƒe gbegblẽ dzi akpɔtɔ. Esiawo dometɔ aɖewoe nye:

• Enzyme Replacement Therapy (ERT): Esia bia be woado enzyme si ŋu wotrɔ asi le le domenyiŋusẽfianu me ɖe ŋutilãa me to ʋuka me.
• Lãmenugbagbeviwo Dodo Ðe Ame Ŋu:Wodoa lãmenugbagbeviwo, siwo tso ame siwo naa ʋu alo esiwo tso vidzidɔ me ʋu me. Lãmenugbagbevi siawo ate ŋu akpe asi ɖe enzyme si bu la wɔwɔ ŋu. Wokpena ɖe ame ŋu hã be woaɖe abi kple lãmenugbagbeviwo ƒe gbegblẽ dzi akpɔtɔ.
• Substrate Reduction Therapy (SRT): Esia bia be woana atike siwo ɖea nusiwo (substrates) siwo ƒoa ƒu ɖe lãmenugbagbeviwo me ƒe agbɔsɔsɔ dzi kpɔtɔna. Le kpɔɖeŋu me, wozãa Miglustat na Gaucher ƒe dɔlélea. SRT bubuwo le dɔdamɔnu dodokpɔwo me fifia.

Numekulawo gale atike yeyewo dim na LSD-tikewo. Wo dometɔ aɖewoe nye:

• Domenyiŋusẽfianu ƒe Dɔdamɔnu: Esia gakpɔtɔ le numekuku ƒe afɔɖeɖea me. Ebia be woatsɔ domenyiŋusẽfianu siwo gblẽ la aɖɔli esiwo le lãmesẽ me.
• Pharmacological Chaperone Therapy (PCT): Le esia me la, molecule suewo blana ɖe enzyme siwo gblẽ ŋu eye wòna lysosomes ƒe dɔwɔwɔ nyona ɖe edzi.

Tsɔ kpe ɖe atikewɔmɔnu siawo koŋ ŋu la, wozãa atike bubuwo tsɔ léa dɔlélea ƒe dzesiwo nu. Le kpɔɖeŋu me:

• Dɔlélenutsiŋutete ƒe atikewo
• Atike Siwo Metsɔa steroid O Siwo Tsi Tre Ðe Dzoxɔxɔ Ŋu (NSAIDs) .
• Ƒumeŋuɖui ƒe akɔtaɖonuwo
• Atike bubuwo le dzesiwo kple ŋutinu siwo ŋu dɔlélea le nu
• Lãmesẽfefewɔwɔ
• Nuƒoƒo ƒe atikewɔwɔ
• Ɣeaɖewoɣi la, amekoko

Ðe woate ŋu aɖe afɔku si le lysosomal storage diseases (LSD) xɔxɔ me dzi akpɔtɔa?

Le nyateƒe me la, naneke meli míate ŋu awɔ atsɔ aɖe afɔku si le lysosomal storage diseases (LSDs) xɔxɔ me dzi akpɔtɔ o elabena domenyiŋusẽfianu gbɔe wòtsona. Gake ne èdze atikewɔwɔ gɔme ne wonya kpɔ dɔlélea le wò alo viwòa ŋu ko la, ate ŋu ana wò agbenɔnɔ nanyo ɖe edzi ŋutɔ.

Etsɔme ka ƒomevie amesi ŋu LSD le ate ŋu akpɔ mɔ na?

Ame si ŋu LSD le ƒe etsɔme nɔ te ɖe nu geɖe dzi:

• Aleke gbegbe wokpɔ dɔlélea kabae.
• Atikewɔwɔ ka ƒomevie nàxɔ?
• LSD ƒomevi si wònye ƒe nya koe wònye.
• Nenye be LSD-wo ate ŋu ayi teƒe siwo atikewɔƒe tɔxɛwo le.

Le goawo katã me la, amesi ŋu LSD sesẽ le ƒe agbenɔƒe ate ŋu anɔ kpuie wu. Gake le LSD siwo mesẽ boo o gome la, ne wodze atikewɔwɔ gɔme hafi ŋutinuwo gblẽ la, woate ŋu anɔ agbe didi wu.

Aleke mawɔ akpɔ ɖokuinye kple vinye dzi esime mele agbe kple LSD?

Ne lysosomal storage disease (LSD) le ŋuwò alo viwòa ŋu la, ate ŋu anye susu me kuxi gã aɖe. Eyata ele vevie ŋutɔ be nàdi kpekpeɖeŋu tso susuŋutinunyala gbɔ. Woate ŋu afia mɔ siwo dzi nàto akpe ɖe ŋuwò nànɔ te ɖe nɔnɔmea nu le seselelãme gome la wò.

Azɔ hã, enyo ŋutɔ be nàge ɖe kpekpeɖeŋunahawo me. To mɔ sia dzi la, àte ŋu ado go ame bubu siwo le kuxi mawo tɔgbe me tom eye nàgblɔ woƒe nuteƒekpɔkpɔwo.

Ɣekaɣie wòle be makpɔ ɖɔkta?

Ne wò dzesiwo le sesẽm ɖe edzi, alo ne mèle naneke kpɔm tso wò atikewɔwɔwo me le ɣeyiɣi aɖe megbe o la, kpɔ egbɔ be yeyi ɖɔkta gbɔ. Ate ŋu aɖo aɖaŋu le atikewɔmɔnu bubu siwo ate ŋu akpe ɖe ŋuwò ŋu.

Gbedasi Mamlɛtɔ si Wotsɔ Yi Aƒeme

Lysosomal Storage Diseases, alo LSDs, nye domenyiŋusẽfianu ƒe dɔléle siwo mebɔ o, siwo tsoa aɖinuwo ƒe ƒuƒoƒo ɖe míaƒe ŋutilã ƒe lãmenugbagbeviwo me ƒe ƒuƒoƒo aɖe. Aɖi siawo ate ŋu agblẽ nu le lãmenugbagbeviwo kple ŋutinu vovovowo ŋu.

Wode dzesi LSD ƒomevi siwo wu 70. Domenyiŋusẽfianu ƒe tɔtrɔ gbɔe wotsona. Togbɔ be dzesiawo toa vovo le LSD ƒomevi si wozãna nu hã la, dzesi siwo bɔ dometɔ aɖewoe nye ƒodo ƒe ŋutinuwo ƒe lolome, mo ƒe dzedzeme ƒuƒu, kple tsitsi ƒe megbetsitsi.

Woate ŋu ade dzesi LSD le fufɔɣi, le vidzĩ yeyewo me, alo le ɖeviwo kple ame tsitsiwo me to ʋudodokpɔ, domenyiŋusẽfianu dodokpɔ, lãmenugbagbeviwo ƒe dɔwɔwɔ, kple aɖuɖɔ dodokpɔ me.

Togbɔ be womate ŋu ada dɔléle siawo keŋkeŋ o hã la, atikewɔmɔnu aɖewo li siwo ate ŋu akpe ɖe ame ŋu wòaɖu dzesiawo dzi eye wòana agbenɔnɔ nanyo ɖe edzi. Eyata ele vevie ŋutɔ be woanya dɔlélea kaba eye woadi atike nyuitɔ. Ne nya bubu aɖewo gale asiwò ku ɖe esia ŋu la, mègahe ɖe megbe le wò ɖɔkta biabia me o, enyoa?

` Lysosomal Storage Dɔlélewo, LSDs, Domenyiŋusẽfianu ƒe Dɔlélewo, Enzymes, Metabolic Dɔlélewo, Dɔléle siwo Mebɔ O, Ðeviwo ƒe Lãmesẽ