Ðe dzesi siawo le viwòa ŋua? Mina míasrɔ̃ nu tso Shprintzen-Goldberg Dɔléle (SGS) ŋu .

Egbea míele nu ƒom tso domenyiŋusẽfianu ƒe nɔnɔme aɖe si mebɔ o ŋu, si fia be menye amesiamee kpɔnɛ o. Woyɔe be Shprintzen-Goldberg Dɔléle (SGS). Ðewohĩ mèse ŋkɔ sia gɔ̃ hã kpɔ o. Gake ele vevie ŋutɔ be míanya nɔnɔme mawo tɔgbe, elabena ekema míate ŋu ade dzesi dzesiawo kaba eye míadi atikewɔlawo ƒe aɖaŋuɖoɖo si hiã.

Nukae nye Shprintzen-Goldberg Dɔléle (SGS)?

Kpuie ko la, Shprintzen-Goldberg Dɔléle (SGS) nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o si gblẽa nu le míaƒe ŋutilã ƒe akpa vovovowo ŋu. Vevietɔ nana ɖevi ƒe mo ƒe nɔnɔme aɖewo siwo mebɔ o, taɖu ƒe ƒuwo ƒe ƒoƒo ƒu kaba (woyɔa esia be ``Craniosynostosis''), ƒunukpeƒe ƒe tɔtrɔ vovovowo, ahɔhɔ̃ kple lãmekawo ƒe kuxiwo (le kpɔɖeŋu me, susu ƒe tsitsi ƒe megbetsitsi), kple ɣeaɖewoɣi dzi ƒe gbɔdzɔgbɔdzɔ aɖewo.

Ŋkɔ eve bubuwo li siwo wozãna na nɔnɔme sia, ``Marfanoid-craniosynostosis syndrome'' kple ``Shprintzen-Goldberg craniosynostosis syndrome''. Togbɔ be ŋkɔawo adze nu sesẽ vie hã la, nu vevitɔe nye be nàse egɔme be domenyiŋusẽfianu ƒe nɔnɔme aɖee nye esia.

Aleke gbegbee SGS bɔe?

Le nyateƒe me la, Shprintzen-Goldberg Dɔléle nye dɔléle si mebɔ kura o. Vaseɖe fifia la, amesiwo mede 50 o koe atikewɔlawo ƒe nuŋlɔɖiwo ƒo nu tsoe le dɔléle sia ŋu. Ema fia be ame ʋɛ aɖewo siwo ŋu dɔléle sia le le xexeame.

Nu bubu si le esia ŋue nye be SGS ƒe dzesiwo sɔ kple domenyiŋusẽfianu ƒe dɔléle eve bubu siwo woyɔna be Marfan Dɔléle kple Loeys-Dietz Dɔléle, eyata ate ŋu asesẽ vie na ɖɔktawo ɣeaɖewoɣi be woakpɔe nyuie. Eyata esesẽ be woagblɔ ame neni ŋutɔŋutɔ si ŋu dɔléle sia le.

Vovototo kae le Shprintzen-Goldberg Dɔléle, Marfan Dɔléle, kple Loeys-Dietz Dɔléle dome?

Togbɔ be nɔnɔme etɔ̃awo katã ƒe dzesiwo adze abe ɖe wosɔ ene hã la, domenyiŋusẽfianu ƒe tɔtrɔ vovovowo gbɔe wotso . Etɔxɛe la, amesiwo ŋu SGS le la ate ŋu anye esiwo ƒe susu mewɔa dɔ nyuie o. Afɔku hã le wo me be woaxɔ dzidɔ wu amesiwo ŋu Marfan Dɔléle kple Loeys-Dietz Dɔléle le. Gake ɖo ŋku edzi be nusiawo katã ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ.

Nukawoe hea Shprintzen-Goldberg Dɔléle (SGS) vɛ?

Zi geɖe la, nusi koŋ gbɔ SGS tsonae nye domenyiŋusẽfianu si woyɔna be `(SKI)` ƒe tɔtrɔ le míaƒe ŋutilã me. SKI domenyiŋusẽfianu sia wɔa protein si kpena ɖe míaƒe lãmenugbagbeviwo ƒe dɔwɔwɔ vevi geɖe abe tsitsi, mama, ʋuʋu, tsitsi, kple ku ene me.

Bu eŋu kpɔ ko, esi wònye be SKI protein sia le míaƒe ŋutilã ƒe lãkusi vovovowo me ta la, ne tɔtrɔ aɖe va domenyiŋusẽfianu sia me la, ate ŋu akpɔ ŋusẽ ɖe ŋutilã ƒe akpa vovovowo dzi. Esia tae míekpɔa dzesi vovovowo le SGS me ɖo.

Gake SKI domenyiŋusẽfianu ƒe tɔtrɔ mele SGS dɔnɔ aɖewo si o, eyata dzɔdzɔmeŋutinunyalawo gale numekuku wɔm tso nu bubu siwo ate ŋu ahe nɔnɔmea vɛ le nɔnɔme mawo me ŋu.

Ðe esia nye nusi dzɔ tso dzidzimewo mea?

Zi geɖe la, womenyi Shprintzen-Goldberg Dɔlélea ƒe dome o.Zi geɖe la, domenyiŋusẽfianu ƒe tɔtrɔ sia dzɔna le vome, si fia be le fufɔfɔ megbe, le fugboe ƒe afɔɖeɖea me. Eyata amesiwo ŋu dɔléle sia le dometɔ geɖe ƒe ƒometɔwo mexɔ dɔlélea o.

Gake ƒã ŋutɔ , nɔnɔmea ate ŋu atso dzila gbɔ ayi vi gbɔ. Ne wotsɔe yi ame bubu gbɔ la, ke ele autosomal dominant ƒe ɖoɖo nu. Kpuie ko la, esia fia be ne ɖevi nyi domenyiŋusẽfianu si trɔ ƒe kɔpi tso dzila ɖeka ko gbɔ hã la, ɖevia ate ŋu axɔ dɔlélea kokoko.

Nukae nye Shprintzen-Goldberg Dɔléle (SGS) ƒe dzesiwo?

SGS ƒe dzesiwo ate ŋu ato vovo ŋutɔ tso ame ɖeka gbɔ yi bubu gbɔ. Ame aɖewo ƒe dzesiwo nu mesẽna kura o, evɔ ame bubuwo ya ƒe dzesiwo nu sẽna. Dzesi siawo ate ŋu adze ŋutilã ƒe akpa vovovowo dzi.

Dzesi siwo fia be taɖu ƒe ƒuwo ƒoa ƒu kaba (`(Craniosynostosis)`):

Ne vidzĩ ƒe ta ƒe ƒuwo tsaka ɖekae kaba, le vidzidɔ me alo le edziɣi, nɔnɔme si woyɔna be ``Craniosynostosis'', dzesiwo abe:

• Ta didi aɖe si le gbadzaa.
• Ŋkuawo dome didime si dzi ɖe edzi, ŋkuwo do ɖe ŋgɔ alo le ŋgɔgbe yi anyime.
• Aɖu kɔkɔ si le gbadzaa (nu ƒe tame).
• Ŋgonu kɔkɔ aɖe si dzena nyuie.
• Kɔsɔkɔsɔ sue aɖe si le ete.
• Woɖoa toawo ɖe anyi wu alesi wòle dzɔdzɔmee eye ɣeaɖewoɣi la, wotrɔa wo ɖe megbe.

Ƒumeŋuɖui bubu siwo mesɔ o:

Le esia ɖeɖeko megbe la, woate ŋu akpɔ tɔtrɔ bubu siwo va le ƒunukpeƒea abe:

• Ƒunukpeƒewo ƒe ʋuʋu fũ akpa.
• Kluvi ƒe afɔ.
• Akɔta si do ɖe ŋgɔ alo nyrɔ ɖe (Pectus excavatum/carinatum) me.
• Scoliosis ƒe dɔléle.
• Asibidɛ siwo wobɔbɔ tegbee (`(Camptodactyly)`).
• Edidi wu abɔ kple afɔ siwo sɔ.
• Asibidɛ didi siwo le tsɛ (`(Arachnodactyly)`). Ame aɖewo gblɔna be woɖi akpɔkplɔ ƒe afɔwo.

Ame bubu aɖewo hã ate ŋu akpɔ dzesiwo abe esiawo ene:

• Le kpɔɖeŋu me, ahɔhɔ̃a ƒe dɔmawɔmawɔ nyuie, tsi si sɔ gbɔ ɖe ahɔhɔ̃a me (hydrocephalus).
• Tsitsi ƒe megbetsitsi kple susu ƒe dɔmawɔmawɔ nyuie si nu mesẽ o va ɖo esi sɔ gbɔ.
• Nuɖuɖumeŋusẽ ƒe kuxiwo, le kpɔɖeŋu me, dɔgbo ƒe ʋuʋu alo dɔgbo ƒe ƒuƒlu si tsi megbe (Gastroparesis).
• Ƒodo alo akɔta ƒe ʋuʋudedi (`(Hernias)`).
• Ŋutilãa ƒe ƒuƒu, abe ɖe wòdzena to eme ene, kple ƒoƒo bɔbɔe.
• Yagbɔgbɔ sesẽ.
• Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ (`(Hypotonia)`). Esia fia nɔnɔme si me ŋutilãa sena le eɖokui me be agbe mele ye si o.

Dzidɔ ƒe dzesi siwo mebɔ o:

Esiawo medzɔna ɖe amesiame dzi o, gake ame aɖewo ate ŋu axɔ dzidɔ abe esiawo ene:

• Aortic aneurysm (aorta ƒe gli ƒe gbɔdzɔgbɔdzɔ).
• Ʋu sina yia megbe elabena aortic valve metua nyuie o (Aortic regurgitation).
• Aorta ƒe ke ƒe lolome (`(Aortic root dilation)`).
• Ʋu si le dodom tso dzitodzito me (`(Mitral valve regurgitation)`).
• Mitral valve prolapse (dzi ƒe mitral valve ƒe dɔwɔwɔ si mesɔ o).

Nu vevitɔe nye be menye SGS dɔnɔwo katãe dzesi siawo katã le o. Ðewohĩ wo dometɔ ʋɛ aɖewo koe anɔ ame aɖewo ŋu, eye dzesiawo ƒe sesẽme ate ŋu ato vovo.

Aleke wowɔna dea dzesi Shprintzen-Goldberg Dɔléle (SGS)?

SGS ƒe dɔléle didi ate ŋu asesẽ vie. Abe alesi megblɔe va yi ene la, esi wònye dɔléle si mebɔ o eye woate ŋu atɔtɔe kple Marfan Dɔléle alo Loeys-Dietz Dɔléle ta la, woate ŋu ahe dɔlélea didi ɖe megbe ɣeaɖewoɣi.

Ðɔkta nɔa te ɖe dɔlélea ƒe dzesiwo kple dzesiwo koŋ dzi dia dɔlélea. Esia fia be woalé ŋku ɖe ɖevia ƒe ŋutilã ƒe dzedzeme, eƒe tsitsi, kple lãmesẽkuxi bubuwo ŋu nyuie. Ɣeaɖewoɣi la, domenyiŋusẽfianu dodokpɔ ate ŋu aɖo kpe SKI domenyiŋusẽfianu ƒe tɔtrɔ dzi. Gake esi wònye be SGS ate ŋu anɔ amesiwo si domenyiŋusẽfianu ƒe tɔtrɔ sia mele o hã ŋu ta la, dodokpɔ tɔxɛ bubu aɖeke meli si ate ŋu akpe ɖe ame ŋu le dɔlélea didi me fifia o.

Aleke wodaa Shprintzen-Goldberg Dɔléle (SGS)e?

Nublanuitɔe la, fifia la, womekpɔ atike aɖeke koŋ na dɔléle sia o. Taɖodzinu vevitɔ si le Shprintzen-Goldberg Dɔlélea dada ŋue nye be woakpɔ dzesiawo gbɔ eye woakpe ɖe dɔnɔa ŋu wòanɔ agbe nyui alesi wòanya wɔe.

Atikewɔwɔ ƒe tiatia ate ŋu ato vovo, le dɔnɔa ƒe dzesiwo nu. Kpɔɖeŋu ʋɛ aɖewoe nye esi:

• Azɔlizɔzɔ nanɔ bɔbɔe to afɔ alo akɔtaɖonu (`(braces)`) dodo me.
• Nuɖuɖu ƒe mɔ̃ zazã, ne ehiã, be woakpɔ egbɔ be nunyiame nyuitɔ le wo si.
• Atikewo nana be woatsɔ ada dzidɔ.
• Amekoko be woatsɔ aɖɔ dzidɔ alo ƒunukpeƒekuxi siwo le tagbɔ, akɔta, alo akɔta ɖo.
• Ne yaƒoƒomɔ̃a xe la, woate ŋu awɔ amekoko ƒe ʋuƒo (tracheostomy) le kɔa ƒe ŋgɔgbe.

Azɔ hã, wò ɖɔkta ate ŋu aɖo aɖaŋu na wò be nàwɔ dodokpɔ siawo zi ɖeka le ƒea me alo le ƒe eve ɖesiaɖe me, elabena woate ŋu akpe ɖe ŋuwò nàkpɔe ɖa be tɔtrɔ aɖewo va le wò nɔnɔmea me hã:

• Ƒu ƒe kpekpeme dodokpɔ.
• Echocardiogram dodokpɔ be woalé ŋku ɖe dzia ŋu.
• Magnetic resonance angiography (MRA) alo computed tomography angiography (CTA) dodokpɔwo tsɔ doa ʋukawo kpɔ.
• Kpɔe ɖa be tɔtrɔ aɖewo le ƒunukpeƒea ŋu hã (X-ray).

Ðewohĩ ahiã be eŋutinunyalawo ƒe ƒuƒoƒo aɖe nada dɔ na amesi ŋu Shprintzen-Goldberg Dɔléle le. Ƒuƒoƒo sia ate ŋu anye eŋutinunyala bibiwo abe:

• Dzidɔŋutinunyala
• Tagbɔdɔdala (ta kple mo ƒe ƒu ƒe amekola) .
• Domenyiŋusẽfianuŋutinunyala
• Ahɔhɔ̃ kple lãmekawo ƒe amekola (`(Ahɔhɔ̃mekawo ƒe Dɔwɔla)`)
• Dɔwɔwɔ ŋuti nunyala - Ame aɖe si kpena ɖe amewo ŋu wowɔa gbesiagbedɔwo bɔbɔe wu.
• Ŋkudɔdala - na ŋku ƒe kuxiwo (e.g. myopia).
• Nu me amekola - Na kuxi siwo ku ɖe aɖuwo kple aɖuwo ŋu.
• Ƒumeŋutinunyala (ƒu, ƒunukpeƒewo kple akɔtadɔdala) .
• Ðeviwo ƒe Dɔdala
• Lãmesẽdɔwɔla - Ame si kpena ɖe ame ŋu be ʋuʋu kple ŋutilã ƒe dɔwɔwɔ nyona ɖe edzi.
• Susuŋutinunyala
• Radiologist (`(Radiologist)`) - na atikewɔwɔ ƒe nɔnɔmetatawo ɖeɖe.
• Nuƒoƒo ƒe atikewɔla (`(Nuƒoƒo ƒe atikewɔla)`) - na nuƒoƒo ƒe kuxiwo.

Ame siawo katã ƒe kpekpeɖeŋu mee míate ŋu ana atike nyuitɔ kekeake kple beléle nyuitɔ kekeake na dɔnɔa.

Ðe woate ŋu axe mɔ ɖe Shprintzen-Goldberg Dɔléle (SGS) nua?

Fifia mɔ aɖeke meli si dzi woato axe mɔ ɖe domenyiŋusẽfianu ƒe tɔtrɔ si hea Shprintzen-Goldberg Dɔlélea vɛ nu o. Esia le alea elabena zi geɖe la, edzɔna le vome. Azɔ hã, dzɔdzɔmeŋutinunyalawo meka ɖe nu bubu siwo hã nana wòdzɔna dzi haɖe o tsɔ kpe ɖe SKI domenyiŋusẽfianu ŋu.

Nukae nye agbenɔƒe si ame xɔna le Shprintzen-Goldberg Dɔléle (SGS) ŋu?

Ame si ŋu SGS le ƒe agbenɔƒe (nyagblɔɖi) nɔ te ɖe nɔnɔmea ƒe sesẽ dzi. Le amesiwo ƒe dzesiwo mesẽ o gome la, ɖewohĩ makpɔ ŋusẽ ɖe agbenɔƒe dzi boo o. Gake le nɔnɔme siwo me ahɔhɔ̃, dzi, alo nuɖuɖumeŋusẽ gblẽ nu le vevie me la, ate ŋu ana ame ƒe agbenɔƒe nanɔ kpuie.

Nukae wòle be mabia nye ɖɔkta tso Shprintzen-Goldberg Dɔléle (SGS) ŋu?

Ne èva nya be Shprintzen-Goldberg Dɔléle le viwò ŋu la, nyabiase geɖe ate ŋu anɔ asiwò. Le ɣeyiɣi mawo me la, anyo be nàbia wò atikewɔlawo ƒe ƒuƒoƒoa nyawo abe:

• Ðe domenyiŋusẽfianu ƒe tɔtrɔ sia nye domenyinua, alo ɖe wòdzɔ le vomea?
• Nuɖoanyi kawo dzie nɔnɔme sia kpɔa ŋusẽ ɖo le ɖevia ƒe ŋutilã me?
• Atikewɔwɔ kae vinyea hiã?
• Dzesi alo dzesi kawoe hiã be woakpɔ egbɔ kpata?
• Ðe vinyea ƒe tsitsi ahe ɖe megbe alo susu ƒe dɔmawɔmawɔ nyuiea?
• Ðe nɔnɔme sia ana vinyea ƒe agbenɔƒe nadidia?
• Eŋutinunyala bibi ka ƒomeviwoe wòle be míakpɔ? Zi nenie?
• Ðe wòle be woalé ŋku ɖe vinyea ƒe ƒuwo, dzi, ʋukawo, kple ahɔhɔ̃ ŋu edziedzia?
• Ðe kpekpeɖeŋunaha aɖewo li siwo ate ŋu akpe ɖe mía ŋu míanɔ agbe ɖe nɔnɔme sia nua?
• Ðe nèkafui be woaɖo aɖaŋu le domenyiŋusẽfianu alo dodokpɔ ŋua?

Togbɔ be Shprintzen-Goldberg Dɔléle nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o hã la, ele vevie be nànyae eye nàdi atikewɔlawo ƒe aɖaŋuɖoɖo kaba ale si nàte ŋui. Ne èsusu be dzesi siawo le viwòa ŋu la, taflatse yi eŋutinunyala bibi aɖe gbɔ be wòakpɔ dɔlélea nyuie.

Mlɔeba la, ɖo ŋku esia dzi (Take-Home Message) .

Shprintzen-Goldberg Dɔléle (SGS) nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o si ate ŋu ana tɔtrɔ nava ɖevi ƒe mo, ƒunukpeƒe, ahɔhɔ̃, kple ɖewohĩ dzi gɔ̃ hã me.Esia ate ŋu anye domenyinyi, alo ate ŋu adzɔ le vome.

Togbɔ be atike aɖeke meli o hã la, atikewɔmɔnu vovovowo li siwo akpe ɖe ame ŋu woaɖu dzesiawo dzi. Ne eŋutinunyalawo ƒe ƒuƒoƒo aɖe kpe ɖe viwòa ŋu la, ate ŋu anɔ agbe nyuie alesi wòate ŋui. Ne èsusu be dzesi siawo le viwò ŋu la, mègavɔ̃ be yeaƒo nu kple ɖɔkta o. Ne wokpɔ dɔlélea kaba eye wodae nyuie la, ate ŋu ana tɔtrɔ gã aɖe nava. Ðo ŋku edzi be menye wò ɖeka koe o. Kpekpeɖeŋunahawo kple dɔwɔnuwo li siwo akpe ɖe ƒome siwo le nɔnɔme siawo me tom ŋu.

` Shprintzen-Goldberg Dɔléle, SGS, Domenyiŋusẽfianu ƒe Dɔlélewo, Tagbɔdɔléle, SKI Domenyiŋusẽfianu, Ƒumeŋuɖui ƒe Masɔmasɔ, Tsitsi ƒe Heheɖemegbe, Dɔléle Si Mebɔ O