Ðe ŋutilã ƒe akpa aɖewo va lolona le mɔ si mesɔ o nua? Mina míaƒo nu tso Proteus Syndrome ŋu

Èkpɔ alo se ame aɖe si ƒe ŋutilã ƒe akpa aɖewo – ne míagblɔe la, alɔ alo afɔ – lolona ŋutɔ eye wololona le mɔ si mesɔ o nu wu ame mamlɛawo kpɔa? Alo ŋutigbalẽ si le teƒe aɖewo la va nɔa ƒoƒom ɖe edzi eye wòdzena abe ƒunukpeƒetetedɔ wɔnukuwo enea? Esia nye nɔnɔme si mebɔ kura o. Egbea míele nu ƒom tso nɔnɔme aɖe si wɔ nuku vie ŋu, gake ele vevie ŋutɔ be amesiame nanya. Woyɔe be Proteus Dɔléle.

Nukae nye Proteus Dɔléle?

Kpuie ko la, Proteus Syndrome nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o . Enaa wò ŋutilã ƒe ƒuwo, ŋutigbalẽ, ŋutinu ememetɔwo, alo lãkusiwo tsina akpa . Vevietɔ la, zi geɖe la, dzidziɖedzi sia mesɔna o . Esia fia be ametia ƒe ɖusime kple miame ŋue wògblẽa nu le le mɔ vovovowo nu. Akpa ɖeka ate ŋu alolo wu, evɔ akpa kemɛ ya ate ŋu asɔ.

Woyɔa esia be "Proteus", blema Helatɔwo ƒe mawu aɖe nɔ anyi si ŋkɔe nye "Proteus", si ateŋu atrɔ azu nɔnɔme ɖesiaɖe. Dɔléle sia trɔa ŋutilã ƒe nɔnɔme hã, eyata exɔ ŋkɔ.

Zi geɖe la, vidzĩ si wodzi yeyee meɖea nɔnɔme sia ƒe dzesi aɖeke fiana o. Tsitsi sia si mesɔ o dzea egɔme tso ɣleti 6 va ɖo 18 xɔxɔ me . Emegbe eyia ŋgɔ kabakaba le woƒe agbenɔƒe 10 gbãtɔwo me eye ate ŋu asẽ ɖe edzi ne wole tsitsim. Tsɔ kpe ɖe tɔtrɔ siwo vaa ame aɖewo ƒe dzedzeme ŋu la, ahɔhɔ̃mekawo ƒe dɔlélewo ate ŋu adze ame aɖewo dzi. Amesiwo ŋu Proteus ƒe dɔlélea le hã ate ŋu axɔ ʋu ƒe sisi kple dɔdzẽ siwo menye kansa o .

Amekae ate ŋu axɔ esia? Aleke gbegbe wòbɔe?

Proteus ƒe dɔlélea ate ŋu adze ame sia ame dzi, gake numekuku aɖewo ɖee fia be ebɔ vie le ŋutsuwo me wu nyɔnuwo.

Esia nye nɔnɔme si mebɔ kura o . Edzea ame siwo mede ame ɖeka le miliɔn ɖeka me le xexeame katã o. Esi wònye be ƒã ŋutɔ, eye esi nɔnɔme bubu aɖewo hã li siwo hã ɖea tsitsi si mesɔ o fiana ta la, esesẽna be woakpɔe nyuie. Eyata esesẽ be míagblɔ ame neni ŋutɔŋutɔe wòle. Ðɔktawo xɔe se be womekpɔ dɔlélea le ame aɖewo ŋu o, eye wokpɔ dɔlélea le ame bubuwo ŋu vodadatɔe. Ke hã, woxɔe se be ame siwo mede alafa ɖeka o ye ŋu dɔléle sia le le xexeame katã.

Nukawoe nye dzesiawo? Aleke nèwɔ dea dzesii?

Zi geɖe la , Proteus ƒe dɔlélea ƒe dzesi gbãtɔwo dzena le ƒe 6 va ɖo ɣleti 18 dome . Esiae nye esime tsitsi ƒe ɖoɖo si mesɔ o si míeyɔ va yi la dzea egɔme. Alesi tsitsi sia dzɔnae kple alesi wòsesẽe ate ŋu ato vovo ŋutɔ tso ame ɖeka gbɔ yi bubu gbɔ. Ate ŋu adze ŋutilã ƒe akpa ɖesiaɖe, si me ƒuwo, ŋutigbalẽ, ŋutinuwo, kple lãkusiwo hã le. Nɔnɔmea yia ŋgɔ kabakaba le eƒe agbenɔƒe ewo gbãtɔwo me.

### Tɔtrɔ siwo va le ƒuwo me:

Ƒu siwo le wò abɔwo, afɔwo, tagbɔ, kple akɔta ate ŋu atsi madzemadzee.

• Abɔwo kple afɔwo ate ŋu adzi ɖe edzi wòato vovo kura . Tsɔe be alɔ ɖeka didi wu evelia, alo wò afɔwo ƒe didime to vovo.
• Akɔta ƒe ƒoƒo sesẽ (scoliosis) ate ŋu adzɔ.
• Le ɣeyiɣi aɖe megbe la, tsitsi sia si mesɔ o ate ŋu ana ƒunukpeƒewo magate ŋu awɔ dɔ nyuie o.

### Ŋutilã ƒe tɔtrɔ:

Proteus ƒe dɔlélea ate ŋu ana ŋutigbalẽa natsi le mɔ si mesɔ o nu.

• Le teƒe aɖewo la, ŋutigbalẽa ƒoa ke eye wòkɔna ɖe dzi, eye wòwɔa ƒoƒoe si le abe ahɔhɔ̃a ƒe go ene. Woyɔa esia be ahɔhɔ̃mekawo ƒe kadodo ƒe lãkusi si le abe ahɔhɔ̃mekawo ene .
• Zi geɖe la, wokpɔa esiawo le afɔkpodzi , gake woate ŋu ado ɖe asiwo dzi ɣeaɖewoɣi.

Ŋutilã ƒe ƒuƒu sia ƒomevi le etɔxɛ ale gbegbe be womekpɔnɛ le atikewɔwɔ ƒe nɔnɔme bubu aɖeke me o.

### Ʋukawo kple ami ƒe lãkusiwo:

• Ðewohĩ wò ʋukawo, siwo nye ʋuka siwo me ʋu sina tona kple ʋukawo, ƒe tsitsi si mesɔ o anɔ anyi.
• Ami ate ŋu adzi ɖe edzi akpa, si ana ami si sɔ gbɔ naƒo ƒu ɖe teƒewo abe dɔgbo, abɔwo, kple afɔwo ene.
• Zi geɖe la, ami siwo menye kansa o, siwo me ami le (lipomas) ate ŋu adze ame dzi.

### Lãmetsiŋusẽ ƒe kuxiwo:

Ame aɖewo siwo ŋu Proteus ƒe dɔlélea le hã doa go kuxiwo le lãmekawo ƒe dɔwɔwɔ ŋu.

• Susu ƒe nuwɔametɔnyenye.
• Aɖuɖɔtoe ƒe nɔnɔmewo `(Alɔ̃madɔmadɔ)`.
• Nukpɔkpɔ ƒe bublu.

### Tɔtrɔ siwo va le mo ƒe dzedzeme me:

Proteus ƒe dɔléle ate ŋu ana mo ƒe nɔnɔme tɔxɛ aɖewo nadze.

• Mo didi aɖe.
• Edze abe ŋkuawo ƒe gotagome dzogoewo le ŋeŋem ene.
• No ƒe tɔdzisasrã gbadzaa kple ŋɔti ƒe do siwo keke.
• Ðeko wòle abe wò nu ʋuʋu ene.

Nukawoe nye kuxi sesẽ siwo ate ŋu ado mo ɖa le esia ta?

Proteus ƒe dɔlélea ƒe kuxi si ate ŋu ade ame ƒe agbe afɔku me wue nye deep vein thrombosis (DVT), si nye ʋu ƒe sisi le ʋuka gogloawo me . Zi geɖe la, DVT gblẽa nu le afɔ alo abɔ ƒe ʋuka goglowo ŋu, si nana ame sea veve eye wòvuvuna.

Ne `DVT` sia zɔ mɔ to ʋuka me yi lãkusi me la, ateŋu ahe nɔnɔme si me afɔku le si woyɔna be `Pulmonary Embolism` vɛ. Aklã me ʋu ƒe sisi ye nye nusi wua amesiwo ŋu Proteus ƒe dɔlélea le wu.

Aleke Proteus Dɔlélea dzɔnae? Domenyiŋusẽfianu mee wònyea?

Nusitae nye tɔtrɔ (mutation) le domenyiŋusẽfianu si woyɔna be `AKT1` me.. `AKT1` domenyiŋusẽfianu kpena ɖe ame ŋu be wòaɖu lãmenugbagbeviwo ƒe tsitsi kple mama dzi. Ne wotrɔ domenyiŋusẽfianu sia la, ŋutete meganɔa lãmenugbagbevi aɖe si be wòaɖu eƒe tsitsi dzi o. Esia wɔnɛ be lãmenugbagbevi la tsina hemãna le mɔ si mesɔ o nu. Esiae hea tsitsi si gbɔ eme si wokpɔna le Proteus ƒe dɔlélea me vɛ.

Nu vevitɔe nye be Proteus ƒe dɔlélea menye domenyiŋusẽfianu ƒe dɔléle o. Domenyiŋusẽfianu ƒe tɔtrɔ sia dzɔna le fugboea ƒe vidzidzi megbe, si woyɔna be somatic mutation . Dzɔdzɔmenugbagbevi sia dzɔna le vome le fugboe si le tsitsim ƒe lãmenugbagbevi ɖeka me le fufɔfɔ ƒe gɔmedzedze. Ne lãmenugbagbevi sia si trɔ zu lãmenugbagbevi sia le tsitsim hele mamam la, lãmenugbagbevi aɖewo ƒe tɔtrɔ sia nɔa wo ŋu eye ɖewo ya menɔa wo me o. Woyɔa esia be mosaic domenyiŋusẽfianu ƒe tɔtrɔ . Ele abe nɔnɔmetata si wotsɔ amadede vovovowo ƒe kakɛwo wɔ ene. Esi wònye be lãmenugbagbevi aɖewo siwo le ŋutilãa me koe `AKT1` domenyiŋusẽfianu ƒe tɔtrɔ gblẽa nu le ta la, dɔlélea hã gblẽa nu le ŋutilã ƒe akpa aɖe ko ŋu.

Aleke ɖɔktawo dea dzesi esiae?

Wò ɖɔkta awɔ ŋutilãmedɔdada atsɔ anya Proteus ƒe dɔlélea. Woazã dzesi siwo ku ɖe nɔnɔmea koŋ ŋu ƒe xexlẽdzesi tɔxɛ aɖe hã. Hafi ɖɔkta nabu dɔléle sia ŋu la, ele be dzesi etɔ̃ siwo bɔ nanɔ anyi. Woawoe nye:

• Mosaic mama : Esia fia be tsitsiawo kaka ɖe ŋutilã ƒe akpa gã aɖe. Ametia ƒe akpa aɖewo tsina, gake bubuwo ya metsina o.
• Edzɔna ɣeaɖewoɣi : Esia fia be dzesi siawo mele ame bubu aɖeke ŋu le wò ƒomea me o.
• Progressive course : Esia fia be le ɣeyiɣi aɖe megbe la, ŋutilã ƒe akpa siwo ŋu dɔlélea le ƒe dzedzeme trɔ ŋutɔ le tsitsi si gbɔ eme sia ta.

Tsɔ kpe ɖe esia ŋu la, wò ɖɔkta adi dzesi bubu aɖewo koŋ. Be woakpɔe be Proteus ƒe dɔlélea le ŋuwò la, ele be dzesi tɔxɛwo nanɔ ŋuwò tso hatsotso siwo le ɖɔkta ƒe ɖaseɖigbalẽa me dometɔ ɖesiaɖe me.

### Dodokpɔ ka ƒomevie wowɔna?

Domenyiŋusẽfianu ƒe tɔtrɔ si hea Proteus ƒe dɔlélea vɛ la mele lãmenugbagbevi ɖesiaɖe si le ŋutilãa me me o. Eyata domenyiŋusẽfianu dodokpɔ ate ŋu asesẽ vie. Esia le alea elabena ate ŋu adzɔ be tɔtrɔa manɔ ʋu si woxɔ me o, alo ate ŋu anɔ eme le agbɔsɔsɔ sue aɖe ko me.

Gake ɖɔktawo ate ŋu ade dzesi domenyiŋusẽfianu sia si trɔ la ne woɖe wò lãkusi si ŋu dɔlélea le ƒe kpɔɖeŋu sue aɖe (biopsy) eye wodoe kpɔ (DNA dodokpɔ) . Wozãa DNA si tso kpɔɖeŋu ma me tsɔ dea dzesi domenyiŋusẽfianu si trɔ.

Ðe atike aɖe li na esia? Ðe woate ŋu adaea?

Nublanuitɔe la, atike aɖeke meli na Proteus ƒe dɔlélea o . Atikewɔwɔa nɔa te ɖe wò dzesi tɔxɛwo dzi kpɔkpɔ dzi. Ahiã be nàwɔ dɔ kple eŋutinunyala bibiwo ƒe ƒuƒoƒo aɖe be woakpe ɖe ŋuwò le wò ame ɖekaɖekawo ƒe atikewɔwɔ ƒe nuhiahiãwo me.

• ƑumeŋutinunyalaEdaa kuxi siwo le wò ƒuwo ŋu. Dɔdamɔnu vovovowo li be woatsɔ aɖe ƒu ƒe tsitsi fũu akpa le asiwo, afɔwo, kple asibidɛwo me dzi akpɔtɔ. Woate ŋu aɖɔ kuxi siwo le akɔta kple ƒunukpeƒewo hã ɖo. Hafi woawɔ dɔ ɖesiaɖe na wò la, ʋuŋutinunyala aɖe ada wò kpɔ be yeakpɔ afɔku si le ʋu ƒe sisi me hã.
• Ðewohĩ ahiã be nàkpɔ ŋutigbalẽŋutinunyala hena ami si sɔ gbɔ ɖe lãme na ame kple ŋutigbalẽ ƒe tɔtrɔ. Kuxi aɖewo ate ŋu abia be woawɔ atike na wo enumake eye woada wo enuenu. Le kuxi bubuwo gome la, wò ɖɔkta ateŋu awɔ "lala eye nàkpɔ" mɔnu. Eyae nye be woalé ŋku ɖe wò nɔnɔmea ŋu hafi aɖo aɖaŋu na wò be woawɔ atike aɖe koŋ na wò.

Lãmesẽdɔwɔla bubu siwo ate ŋu akpɔ gome le wò beléle me dometɔ aɖewoe nye:

• Atikewɔwɔ si nana ame ƒe lãme sẽna ŋuti nunyala bibi aɖe (Lãmesẽŋutinunyala) .
• Ðɔkta si bi ɖe gbɔgbɔmedɔlélewo me (Pulmonologist) .
• Lãmesẽdɔwɔla
• Dɔwɔɖui ŋuti nunyala
• Ame si wɔa afɔkpa tɔxɛwo kple afɔtiwo (Pedorthist) .

Nyitsɔ laa koe dzɔdzɔmeŋutinunyalawo ke ɖe domenyiŋusẽfianu si hea Proteus ƒe dɔlélea vɛ, si ate ŋu ana woawɔ ŋgɔyiyi gãwo le atike yeyewo kple atikewɔmɔnu bubuwo toto vɛ me.

Ðe mɔ aɖe li si dzi woato axe mɔ ɖe esia nua?

Ao, womate ŋu axe mɔ ɖe Proteus ƒe dɔlélea nu o. Esia le alea elabena domenyiŋusẽfianu ƒe nɔnɔmee wònye. Domenyiŋusẽfianu ƒe tɔtrɔ si hea esia vɛ nye nusi dzɔna le vome le fugboea ƒe tsitsime. Menye nane si dzɔ do ŋgɔ na fufɔfɔ alo le fufɔɣi gbɔe wòtso o. Eyata mègatsi dzi ɖe eŋu o.

Aleke agbenɔƒe le?

Ame si ŋu Proteus ƒe dɔlélea le ƒe agbenɔƒe nɔ te ɖe ŋutilã ƒe akpa siwo ŋu dɔlélea le kple alesi dɔlélea nu sẽe dzi koŋ. Kuxiwo ate ŋu ade ame ƒe agbe afɔku me , eye woate ŋu ahe ku vɛ wu dɔlélea ŋutɔ. Kuxi siawo ate ŋu anye deep vein thrombosis (DVT), aklã me ʋu ƒe sisi, kple kansa. Aklã me ʋu ƒe sisi ye nye nusi wua amesiwo ŋu Proteus ƒe dɔlélea le wu.

Le nusianu me la, amesiwo ŋu Proteus ƒe dɔlélea le dometɔ siwo ade 25% kuna hafi xɔa ƒe 22. Gake zi geɖe la, amesiwo ƒe dzesiwo mesẽ o ƒe agbenɔƒe nyo ne wowɔ atike na wo nyuie.

Aleke woawɔ anɔ agbe kple Proteus Dɔlélea?

Agbenɔnɔ kple ŋutilã me tɔtrɔ siwo Proteus ƒe dɔlélea hena vɛ ate ŋu ate ɖe ame dzi ŋutɔ eye wòasesẽ. Ele vevie be mia kple wò ƒomea miasrɔ̃ nu geɖe tso nɔnɔme sia ŋu alesi miate ŋui.Nuƒoƒo na ame bubu siwo le dɔ sia wɔm kple toɖoɖo woƒe nuteƒekpɔkpɔwo ate ŋu akpe ɖe ŋuwò nàse le ɖokuiwò me be menye ye ɖeka koe le eme o eye be ame aɖewo li siwo sea nu gɔme na wò. Bia wò ɖɔkta tso nunɔamesi siwo ate ŋu akpe ɖe ŋuwò nàkpɔ wò nɔnɔmea gbɔ ahanɔ te ɖe enu ŋu.

Ne èva nya be domenyiŋusẽfianu ƒe dɔléle aɖe si mebɔ o le ye alo viwòa ŋu la, ate ŋu anye nuteƒekpɔkpɔ dziŋɔ kple nuxaxa. Ate ŋu asesẽ vevietɔ ne nɔnɔmea na tɔtrɔ gãwo va le ŋutilã me. Eyata ele vevie be woadi ɖɔkta si ate ŋu anya Proteus ƒe dɔlélea nyuie eye wòaƒo eŋutinunyala bibiwo ƒe ƒuƒoƒo aɖe nu ƒu. Ne wowɔ atike na ame akpa gãtɔ la, woƒe agbenɔƒe nyo. Ele vevie hã be nàdi amewo ƒe ƒuƒoƒo aɖe si ate ŋu ado alɔ wò ne èle dɔléle sesẽ sia si nèdze ŋgɔe la me tom.

Ðo ŋku nu vevitɔ kekeake dzi (Take-Home Message) .

• Proteus ƒe dɔléle nye domenyiŋusẽfianu ƒe nɔnɔme si mebɔ kura o si ƒe dzesi enye ŋutilã ƒe akpa aɖewo ƒe tsitsi si mesɔ o, si gbɔ eme.
• Esia menye domenyiŋusẽfianu o . Domenyiŋusẽfianu ƒe tɔtrɔ si dzɔna le vome si dzɔna le fugboe ƒe ɣeyiɣia me gbɔe wòtsona.
• Dzesiawo ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ ŋutɔ .
• Togbɔ be womate ŋu adae bliboe o hã la , atike vovovowo li siwo dzi woato akpɔ dzesiawo gbɔ.
• Ele vevie ŋutɔ be woadi kpekpeɖeŋu tso ɖɔkta bibiwo ƒe ƒuƒoƒo aɖe gbɔ eye woanya nu tso dɔlélea ŋu nyuie.
• Ele vevie be woanya kuxiwo abe deep vein thrombosis (DVT) kple pulmonary embolism (Pulmonary Embolism) ene be woakpɔ amewo ƒe agbe ta.
• Ne nɔnɔme sia le fu ɖem na wò alo wò lɔlɔ̃tɔ aɖe la, mègaŋlɔ ŋusẽ si dona tso susuŋutinunya ƒe kpekpeɖeŋu kple kpekpeɖeŋunahawo me be o .

Mele mɔ kpɔm be nyatakaka sia akpe ɖe ŋuwò. Ne nane si ŋu nètsi dzi ɖo la, taflatse mègaŋlɔ be yeadi atikewɔlawo ƒe aɖaŋuɖoɖo o.

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