Ðe dzesi siawo le viwòa ŋua? Mina míasrɔ̃ nu tso Morquio Dɔlélea ŋu!

Ðe nède dzesi nusiwo mesɔ o le viwò suea ƒe tsitsi me alo tɔtrɔ aɖewo le woƒe ƒuwo ŋu nyitsɔ laa? Ɣeaɖewoɣi la, àte ŋu atsi dzimaɖi elabena màte ŋu anya nusiwo nye esiawo o. Egbea míele nu ƒom tso atikewɔwɔ me nɔnɔme mawo dometɔ ɖeka si mebɔ o gake wòle vevie ŋutɔ ŋu. Ema nye nɔnɔme aɖe si woyɔna be Morquio Syndrome.

Nukae nye Morquio Dɔléle? Mina míase egɔme bɔbɔe!

Enyo, mina míakpɔ nusi Morquio Syndrome nye ɖa. Wogayɔnɛ be Mucopolysaccharidosis IV (MPS IV). Kpuie ko la, enye domenyiŋusẽfianu si kpɔa ŋusẽ ɖe míaƒe ƒuwo ƒe tsitsi dzi, eye dzesiawo dzina ɖe edzi vivivi le ɣeyiɣi aɖe megbe. "Domenyiŋusẽfianu" fia be enye nusi ƒe dome míenyi tso mía dzilawo gbɔ.

Nusi koŋ gbɔ nɔnɔme sia tsoe nye be míaƒe ŋutilã mate ŋu agbã sukli gã siwo woyɔna be glycosaminoglycans (GAGs) (si woyɔna tsã be mucopolysaccharides) nyuie o. Esia dzɔna elabena enzyme siwo sɔ gbɔ mele ŋutilãa me be wòate ŋu awɔ dɔa o. Bu enzyme siawo be wonye dɔwɔla sue siwo le míaƒe ŋutilã me siwo wɔa dɔawo katã. Ne wobu la, nu aɖewo mawɔ dɔ nyuie o.

Nukawoe nye Morquio Dɔléle ƒomevi veviwo?

Morquio ƒe dɔlélea ƒomevi vevi eve li. Togbɔ be ƒomevi evea siaa ƒe dzesiwo ɖi wo nɔewo le akpa gãtɔ me hã la, domenyiŋusẽfianu siwo hea wo vɛ la to vovo.

• Ƒomevi A: Esia tsoa enzyme N-acetyl-galactosamine-6-sulfatase (GALNS) ƒe anyimanɔmanɔ gbɔ.
• Ƒomevi B: Esia tsoa enzyme beta-galactosidase (GLB1) ƒe anyimanɔmanɔ gbɔ.

Esi wònye be atikewɔwɔ na ƒomevi eveawo siaa ate ŋu ato vovo ta la, ele vevie ŋutɔ be nàde dzesi ƒomevi si tututu le ŋuwò.

Aleke gbegbee nɔnɔme sia bɔe?

Le nyateƒe me la, Morquio Dɔléle nye dɔléle si mebɔ kura o. Le dukɔ abe United States ene me la, akɔntabubuwo ɖee fia be edzea ame ɖeka le 200,000 va ɖo 300,000 ɖesiaɖe me. Woka nya ta be le amesiawo dome la, 95% nye Morquio Syndrome ƒomevi A.

Nukae nye Morquio Dɔléle ƒe dzesiwo?

Zi geɖe la, Morquio ƒe dɔlélea ƒe dzesiwo dzea egɔme le vidzĩme va ɖo ɖevimenɔɣi. Dzesi siawo dzina ɖe edzi vivivi le ɣeyiɣi aɖe megbe. Dzesi siawo gblẽa nu le ƒunukpeƒea koŋ ŋu. Na míakpɔ nusiwo wonye ɖa:

• Mo ƒe dzedzeme va nɔa ƒuƒuie vie.
• Ƒunukpeƒe siwo te ŋu trɔna bɔbɔe.
• Nusiwo mesɔ o le akɔta, akɔta, akɔta, akɔta, kple asibidɛwo ƒe tsitsi me. Ðewohĩ èkpɔ ɖevi aɖewo siwo ƒe akɔta le ƒoƒom vie. Nu mawo tɔgbe.
• Klowo ƒoƒo (genu valgum). Edze abe kloawo bɔbɔ ɖe eme ene.
• Womeɖo vidzidɔa ƒe akɔtaƒuwo ɖe teƒe nyuitɔ o. Woyɔa esia be odontoid process anomaly.
• Eƒe kɔkɔme le kpuie. Eyae nye be ame ƒe kɔkɔme masɔ ɖe ƒe si wòxɔ nu o.
• Scoliosis alo kyphosis ƒe dɔléle.

Tsɔ kpe ɖe ƒunukpeƒewo ŋu la, nɔnɔme sia ate ŋu agblẽ nu le ŋutilã ƒe akpa bubuwo hã ŋu. Dzesiawo dometɔ aɖewoe nye:

• Nukpɔkpɔ si me mekɔ o kple nukpɔkpɔ ƒe ɖiɖi. Ɣeaɖewoɣi la, ŋkua ƒe akpa si le ɣie, abe ŋkume ƒe ŋkume ene, ate ŋu adze abe ɖe wòle blukɔ ene.
• Aɖu ƒe kuxi siwo dona tso aɖu ƒe lãkusi ƒe ƒuƒu ta.
• Aklã si lolo (aklã ƒe lolome).
• Tosese ƒe dɔmawɔmawɔ nyuie kple to me dɔlékuiwo xɔxɔ enuenu.
• Hernias ƒe dzɔdzɔ.
• Vevesese le teƒe siwo ƒu ƒe tsitsi mesɔ o le.
• Aɖuɖɔtoe kple alɔ̃dɔdɔ ƒe gbɔgbɔtsixetsixe.
• Yagbɔgbɔ ƒe akpa si le etame ƒe dɔlélewo xɔxɔ enuenu.

Nu vevitɔ si dzi wòle be míaɖo ŋkui enye be Morquio Syndrome mekpɔa ŋusẽ ɖe ɖevi ƒe nunya dzi o.

Gake nɔnɔme sia ƒe dzesi sesẽ aɖewo ate ŋu ade ame ƒe agbe afɔku me. Esiawo dometɔ aɖewoe nye:

• Yaƒoƒomɔ̃ ƒe xexe.
• Ne wozi aklãa dzi la, ate ŋu ahe nɔnɔmewo abe lãmetutudɔ ene vɛ.
• Dzitodzito ƒe ʋukawo ƒe nɔnɔme siwo mesɔ o.

Nukae hea Morquio Dɔlélea vɛ?

Domenyiŋusẽfianu aɖe hã gbɔe Morquio Syndrome tsona. Nɔnɔme sia dzɔna ne ɖevi nyi domenyiŋusẽfianu ƒe tɔtrɔ eve (si fia tso vidadaa kple fofoa siaa gbɔ) dome le GALNS (ƒomevi A) domenyiŋusẽfianu, si ŋu míeƒo nu tsoe va yi, alo GLB1 (ƒomevi B) domenyiŋusẽfianu me.

Domenyiŋusẽfianu siawo wɔa enzyme siwo gblẽa sukli molecule siwo woyɔna be glycosaminoglycans (GAGs) siwo míeyɔ va yi la me. Ne domenyiŋusẽfianu ƒe tɔtrɔ aɖe va la, enzyme siawo mexɔa mɔfiame siwo hiã be woawɔ dɔ nyuie o. Eyae nye be woƒe dɔwɔna dzi ɖena kpɔtɔna ŋutɔ, alo wobuna kura.

Nukae dzɔna ɣemaɣi? Sukli molecule mawo (GAG) dzea ƒoƒo ƒu ɖe teƒe siwo le lãmenugbagbeviwo me si woyɔna be lysosomes. Lysosomes le abe teƒe siwo le lãmenugbagbeviwo me siwo me wogbãa nusiwo womedi o eye wogbugbɔa wo zãna ene. Esia tae wogayɔa Morquio Dɔlélea be lysosomal storage disorder .

Togbɔ be sukli molecule ƒe ƒuƒoƒo sia gblẽa nu le lãmenugbagbevi kple ŋutinu vovovowo ŋu hã la, zi geɖe la, egblẽa nu le ƒuwo ŋu. Esia tae ƒuwo me koŋue wokpɔa dzesiawo ɖo.

Amekawoe nɔnɔme sia ate ŋu akpɔ ŋusẽ ɖo?

Morquio Syndrome nye domenyiŋusẽfianu ƒe dɔléle si ate ŋu adze ame sia ame dzi. Ne domenyiŋusẽfianu si ŋu dɔlélea le la nyi dome tso dzila eveawo siaa gbɔ ko hafi wonyinɛ (autosomal recessive inheritance).Esia fia be hafi dɔléle sia nadze ɖevi dzi la, ele be dzila evea siaa nanye domenyiŋusẽfianu sia tsɔlawo. Gake ne wonye amesiwo tsɔa dɔlékuiwo hã la, dzilawo maɖe dzesi siawo afia o.

Aleke wowɔna dea dzesi Morquio Dɔlélea?

Zi geɖe la, wokpɔa nɔnɔmea ne dzesiawo dze ƒã, si nye ɖevimenɔɣi. Viwòa ƒe ɖɔkta awɔ ŋutilãmedɔdada gbã eye ate ŋu aɖe gbe be woawɔ X-ray atsɔ alé ŋku ɖe ƒuawo ŋu. Tsɔ kpe ɖe eŋu la, ɖɔkta ate ŋu aɖe gbe be woawɔ dodokpɔ bubu geɖe:

• Aɖuɖɔ dodokpɔ: Esia léa ŋku ɖe glycosaminoglycans ƒe agbɔsɔsɔ si le ɖevia ƒe aɖuɖɔ me ŋu.
• Ʋudodokpɔ: Esia ate ŋu ade dzesi domenyiŋusẽfianu si hea dzesiawo vɛ eye woakpɔ alesi enzyme si sɔ le dɔ wɔm le ŋutilãa me.

Nukawoe nye Morquio Dɔlélea ƒe atikewo?

Nublanuitɔe la, atike aɖeke meli na Morquio Dɔlélea o. Gake atikewɔmɔnu vovovowo li siwo ate ŋu akpe ɖe ɖevia ŋu wòaɖu dzesiawo dzi eye wòana agbenɔnɔ nanɔ bɔbɔe na ɖevia. Wo dometɔ aɖewoe nye:

• Cornea ɖɔliɖɔli - keratoplasty si gena ɖe lãme na ame.
• Enzyme Replacement Therapy (ERT) for Morquio syndrome type A. Esia bia be woado enzyme si mehiã o la ɖe gota.
• Lãmesẽfefe: Esia kpena ɖe ɖevia ŋu wòte ŋu zɔna nyuie.
• Amekoko: Woate ŋu awɔ dɔ na ame be wòaɖe asi le ƒu siwo wote ŋu, ana akɔtaƒu kple aklã ƒe ka si le kɔa me nali ke, eye woaɖe tonsils kple adenoids ɖa be yaƒoƒomɔ̃a naʋu.
• Bunɔkeke alo mɔ̃ bubu siwo kpena ɖe ame ŋu be woatsɔ aʋuʋui zazã.
• Tomemɔ̃ alo yaƒoƒomɔ̃wo zazã.

Nukae mate ŋu akpɔ mɔ na ne Morquio Syndrome le vinye ŋu?

Ðewohĩ Morquio ƒe dɔlélea ƒe dzesiwo masẽ le gɔmedzedzea me o. Gake ele be nàkpɔ mɔ be dzesiawo adzi ɖe edzi vivivi ne viwòa le tsitsim. Gake mègatsi dzi o, atikewɔwɔ ate ŋu akpe ɖe viwòa ŋu wòaɖe dzi ɖi wu eye wòaxe mɔ ɖe emetsonu sesẽ siwo ate ŋu ade eƒe agbe afɔku me nu.

Nukae nye amesi ŋu Morquio Dɔléle le ƒe agbenɔƒe le mama dedie nu?

Esia nye nyabiase si ŋuɖoɖo sesẽ ŋutɔŋutɔ. Ame si ŋu Morquio Dɔléle le ƒe agbenɔƒe toa vovo le alesi dɔlélea nu sẽe nu.Viwòa ƒe lãmesẽdɔwɔla anɔ te ɖe viwòa ƒe nɔnɔme dzi aɖe nya sia me na wò. Dzesiwo abe gbɔgbɔ sesẽ kple aklã ƒe tete ene nye nu vevi siwo ate ŋu ana ame naku kaba.

Ðevi siwo ŋu dzesi sesẽwo le ate ŋu anɔ agbe vaseɖe ƒewuiwo me. Amesiwo ƒe dzesiwo mesẽ boo o ate ŋu anɔ agbe vaseɖe ƒe titina, ɖewohĩ vaseɖe woƒe ƒe 60-awo me.

Ðe woate ŋu axe mɔ ɖe Morquio Dɔlélea nua?

Morquio Syndrome nye domenyiŋusẽfianu ƒe dɔléle, eyata mɔ aɖeke meli si dzi woato axe mɔ ɖe enu o. Gake ne domenyiŋusẽfianu ƒe dɔléle sia le wò alo wò ƒomea me tɔ aɖe ŋu, alo ne ètsi dzi ɖe eŋu hafi nàdzi vi la, àte ŋu aƒo nu kple wò ɖɔkta tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo kple domenyiŋusẽfianu dodokpɔ ŋu. Esia akpe ɖe ŋuwò nàse afɔku si le eme be nàdzi vi si ŋu domenyiŋusẽfianu ƒe dɔléle aɖe le la gɔme.

Ɣekaɣie wòle be makpɔ ɖɔkta?

Dzesi siwo gblẽa nu le aklã kple gbɔgbɔtsixe ŋue nye esiwo nu sẽ wu. Eya ta ele vevie be míalé to ɖe nu mawo tɔgbe ŋu kaba. Ne gbɔgbɔ le sesẽm na viwòa, alo ne lãmetutudɔ ƒe dzesiwo le wo ŋu la, yi kɔdzi enumake.

Lé ŋku ɖe viwòa ƒe dzesiwo ŋu ɣesiaɣi, vevietɔ le amekoko vɔ megbe, eye nàlé ŋku ɖe dɔlékui ƒe dzesiwo ŋu (e.g., vevesese, abi, ʋuʋudedi). Ne ède dzesi esiawo dometɔ aɖe la, yi ɖɔkta gbɔ enumake.

Nya kawoe wòle be mabia nye ɖɔkta?

Anyo be nàbia nya siawo tɔgbe viwòa ƒe ɖɔkta:

• Ðe vinyea hiã kamedede be wòate ŋu azɔ nyuiea?
• Ðe wòahiã be woawɔ dɔ na vinyea be wòaɖɔ ƒu ƒe tsitsi ƒe masɔmasɔwo ɖoa?
• Morquio Syndrome ƒomevi ka ƒomevie le vinyea ŋu?
• Ðe wòahiã be vinye nazã bunɔkeke hafi azɔ mɔa?

Mlɔeba la, nusiwo dzi wòle be woaɖo ŋkui (Take-Home Message) .

Ate ŋu asesẽ ŋutɔ be nànya be domenyiŋusẽfianu aɖe le viwòa ŋu si ate ŋu ana woƒe agbenɔƒe nadidi ɖe edzi. Gɔmesese le eŋu. Ele be nàna lɔlɔ̃ kple kpekpeɖeŋu geɖe viwòa ɣesiaɣi. Esi nɔnɔme sia gblẽa nu le woƒe ƒuwo ŋu ta la, ate ŋu asesẽ na wo be woazɔ azɔli ahafe kple ɖevi bubu siwo nye woƒe ƒemetɔwo. Gake mɔ̃ siwo kpena ɖe viwòa ŋu be wòaʋu ayi teƒe bubuwo zazã ate ŋu ana ablɔɖe aɖe viwòa be wòakpɔ gome le ɖevimenɔɣi ƒe dɔwɔnawo me.

Ne ède dzesii be viwòa ƒe tsitsime ƒe nu vevi siwo ku ɖe nukpɔkpɔ alo nusese ŋu tom la, gblɔe na wò ɖɔkta enumake. Esia ate ŋu akpe ɖe viwòa ŋu be wòagatsi megbe le sukudɔdasiwo me o. Ne viwòa ɖe dzesiwo fia be gbɔgbɔ sesẽ alo eƒe susu megale dɔ wɔm o la, yi kɔdzi enumake.

Agbenɔnɔ kple nɔnɔme sia tɔgbe nye kuxi, gake atikewɔwɔ ŋuti aɖaŋuɖoɖo nyuiwo, atikewɔwɔ, kple wò lɔlɔ̃ anye ŋusẽ gã aɖe na viwòa be wòanɔ agbe nyuitɔ kekeake.

` Morquio Syndrome, MPS IV, domenyiŋusẽfianu ƒe dɔlélewo, ƒu ƒe tsitsi, enzymes, glycosaminoglycans, ɖeviwo ƒe dɔlélewo