Ðe tosese me kuxiwo kple aɖuɖɔtoe hã le viwò suea ŋua? Na míasrɔ̃ nu tso Pendred Syndrome ŋu!

Ðe viwò suea meʋuʋuna le toɣliɖeɖe sesẽwo ta oa? Alo ɖe metrɔna yia megbe ne woyɔ eƒe ŋkɔ oa? Ɣeaɖewoɣi la, le nu siawo megbe la, domenyiŋusẽfianu ƒe nɔnɔme aɖe si mebɔ o ate ŋu anɔ anyi si ŋu míebuna gɔ̃ hã o. Emae nye nusi Pendred Syndrome nye. Mègatsi dzi o, egbea míaƒo nu tso esia ŋu bɔbɔe, le mɔ si gɔme nàte ŋu ase nu.

Nukae nye Pendred Syndrome?

Kpuie ko la, Pendred Syndrome nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o . Le go sia me la, ate ŋu adzi viwòa kple tosese tegbee. Zi geɖe la, tosese sia gblẽa nu le to eveawo siaa ŋu eye ate ŋu agblẽ ɖe edzi le ɣeyiɣi aɖe megbe. Tsɔ kpe ɖe eŋu la, ɖeviwo kple sɔhɛ tsitsi siwo ŋu Pendred Syndrome le ate ŋu axɔ goiter , si nye lãkusi si lolo ɖe kɔ me. Ɣeaɖewoɣi, gake ƒã ŋutɔ la, goiter sia ate ŋu ana thyroid gland si mewɔa dɔ nyuie o (hypothyroidism) hã nadzɔ.

Bu ale si gbegbe wòasesẽ be nànya be dɔléle sia le viwòa ŋu kpɔ. Gake nu vevitɔ kekeakee nye be màgatsi dzodzodzoe o . Wò ɖɔkta akpe ɖe ŋuwò nàkpɔ nɔnɔmea gbɔ ahaɖu viwòa ƒe dzesiwo dzi alesi nàte ŋui. Woagblɔ tomemɔ̃ siwo sɔ na viwòa hã na wò, kpakple kadodomɔnu siwo nàzã. Ekema tosese ƒe kuxia manye mɔxenu gã aɖeke na viwòa ƒe gbegbɔgblɔ ƒe ŋutete kple nusɔsrɔ̃ o.

Nukawoe nye Pendred ƒe dɔlélea ƒe dzesiwo?

Nɔnɔme sia ƒe dzesi vevitɔ si dze ƒã wue nye tosese . Afisi nu sia bu ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ. Ðevi aɖewo ate ŋu ƒe tosese si nu mesẽ o va ɖo esi nu sẽ ŋutɔ (tokunɔnyenye). Le kpɔɖeŋu me, ɖevi si ƒe to me gblẽ vie la ate ŋu ase amewo ƒe nuƒoƒo gake mate ŋu ase nya si gblɔm wole la gɔme o.

Zi geɖe la, tosese sia nɔa anyi le vidzidzi me, gake ɣeaɖewoɣi la, ate ŋu adze le vidzĩme, ɖevimenɔɣi, alo emegbe gɔ̃ hã.

Dzesi siwo le tosese ƒe dɔmawɔmawɔ nyuie si Pendred ƒe dɔlélea hena vɛ ate ŋu anye:

• Vidzĩ sue meʋuʋuna ne ese toɣliɖeɖe sesẽ aɖe gɔ̃ hã o.
• Vidzĩa meɖoa eŋu ne woyɔe kple ŋkɔ o.
• Vidzĩa megblɔ eƒe nya gbãtɔ o le ƒe ɖeka kloe enye sia.
• Nuƒoƒo gɔmedzedze emegbe wu ɖevi bubu siwo xɔ ƒe ma ke.
• Ðevia bia tso asiwò ɣesiaɣi be "wòagagblɔ nya ma ake."

Tsɔ kpe ɖe tosese ƒe kuxi siawo ŋu la, dzesi bubu geɖewo ate ŋu anɔ anyi:

• Dadasɔ ƒe nyawo ne èle azɔli zɔm - le kpɔɖeŋu me, ɣeyiɣi aɖe xɔɣi hafi nàdze azɔlizɔzɔ gɔme. Gake esia medzɔna ɖe amesiame dzi o eye ƒã ŋutɔ.
• Goiter - Esia dzena zi geɖe ne ɖevia tsi vie, si fia be le ƒewuiwo alo sɔhɛmenɔɣi.
• Hypothyroidism - Esia hã nye nɔnɔme si mebɔ kura o.

Nukatae Pendred ƒe dɔléle sia dzɔna?

Nu vevitɔ si gbɔ Pendred ƒe dɔlélea tsonae nye domenyiŋusẽfianu ƒe tɔtrɔ le domenyiŋusẽfianu si woyɔna be `SLC26A4` me . Domenyiŋusẽfianu sia kpena ɖe míaƒe ŋutilã ŋu wòwɔa protein si woyɔna be `pendrin` . Pendrin sia do ƒome kple míaƒe tosese kple lãkusi ƒe dɔwɔwɔ siaa. Ènya be thyroid gland la wɔa lãmetsi siwo kpɔa alesi míaƒe ŋutilã zãa ŋusẽe (metabolism) dzia.

Eyata ne kuxi aɖe do mo ɖa le pendrin protein sia ŋu la, ɖewohĩ nusiwo le ɖevi ƒe to ememetɔ me siwo do ƒome kple tosese la matsi nyuie o . Esiae hea nɔnɔme aɖe si woyɔna be sensorineural hearing loss vɛ . "Sensorineural" fia be tosese sia nɔa anyi ɖaa eye kuxi aɖe si le to ememetɔ ŋutɔ me gbɔe wòtso. Kuxi siawo ate ŋu anye:

• Enlarged Vestibular Aqueducts (EVAs) : Wò vestibular aqueducts nye ƒu ƒe mɔ̃ sue siwo doa ka kple wò to ememetɔ kple taɖu. Ame geɖe siwo ƒe vestibular aqueducts lolo la mesea nu nyuie o.
• Tomeka si ƒe "trɔ" ʋɛ wu alesi wòle dzɔdzɔmee : Tomeka nye míaƒe tomeŋusẽ ƒe akpa si le eme wu. Enye xɔ si woxatsa, abe ʋetsuvi ƒe do ene. Zi geɖe la, etrɔna zi gbɔ zi 2 kple 3/4. Ðewohĩ ɖevi si ŋu Pendred ƒe dɔlélea le ƒe tɔtrɔ ʋɛ aɖewo koe le coil sia me wu ame dzɔdzɔe. Esia do ƒome kple tosese hã.

Azɔ hã, abe alesi megblɔe va yi ene la, pendrin hã kpɔa ŋusẽ ɖe alesi lãkusia wɔa dɔe dzi. Eyata ne kuxiwo do mo ɖa le lãkusia ŋu la, ate ŋu avuvu (goiter) eye lãmetsiŋusẽ manɔ eme o.

Aleke ɖevi nyi Pendred ƒe dɔlélea ƒe domee?

Esia adze nu sesẽ vie be woase egɔme, gake mina magblɔe kpuie. Ðevi si ŋu Pendred ƒe dɔlélea le nyia nɔnɔmea ƒe dome le autosomal recessive pattern me . Enyo, esia ɖi nya sesẽ vie, alo? Ne míagblɔe kpuie la, ele ale:

Be ɖevi nate ŋu aɖe dzesi siawo afia la, ele be wòanyi domenyiŋusẽfianu ƒe tɔtrɔ sia ƒe kɔpi eve dome – ɖeka tso wo dada gbɔ eye ɖeka tso wo fofo gbɔ.

Le go sia me la, dzila evea siaa nye domenyiŋusẽfianu si wogbugbɔ trɔ la tsɔlawo . Eyae nye be domenyiŋusẽfianu ɖeka si trɔ kple domenyiŋusẽfianu ɖeka si sɔ le wo ame evea siaa si. Le domenyiŋusẽfianu ma si sɔ ta la, dzilawo mexɔa Pendred ƒe dɔlélea o. Gake ne wodzi vi la, mɔnukpɔkpɔ anɔ anyi abe 25% ene be ɖevia naxɔ dɔlélea. Bu eŋu abe gaku eve ʋuʋu ene eye wo ame evea siaa ava ta.

Aleke wokpɔa Pendred ƒe dɔlélea?

Nusi woawɔ atsɔ akpɔe ɖa be tosese ƒe kuxiwo le vidzĩ siwo wodzi yeyee ŋu hãZi geɖe la, wowɔa tosese dodokpɔ le kɔdziwo. Ne to dodokpɔ aɖe ɖee fia be ame ƒe to me gblẽ la, ehiã be woagawɔ dodokpɔ bubuwo atsɔ aɖo kpe dɔlélea dzi. Ema ko hafi wowɔa dodokpɔ siwo le tẽ wu tsɔ léa ŋku ɖe Pendred ƒe dɔlélea ŋu. Alo, ne èsusu be tosese le viwòa ŋu la, àte ŋu ayi ɖɔkta gbɔ. Le ɣeyiɣi sia me la, anɔ eme be àkpɔ toŋutinunyala (ENT) alo domenyiŋusẽfianu ŋuti nunyala bibi aɖe .

Ðɔktaa abia nya wò tso viwòa ƒe tosese ƒe kuxia ŋu. Le kpɔɖeŋu me, ɣekaɣie nède dzesii zi gbãtɔ eye nenye be tosese me kuxiwo nɔ wò ƒomea me kpɔ. Esi wònye be domenyiŋusẽfianue Pendred ƒe dɔlélea tso ta la, ate ŋu adzɔ be wò ƒomea me tɔ aɖe hã xɔe kpɔ.

Esiawoe nye dodokpɔ siwo kpena ɖe ame ŋu wòkpɔa Pendred ƒe dɔlélea:

• Tosese dodokpɔ : Esiawo dometɔ aɖewoe nye dodokpɔwo abe Otoacoustic Emissions (OAE) kple Auditory Brainstem Response (ABR) . Esiawo léa ŋku ɖe to ememetɔ kple tomemɔwo ƒe dɔwɔwɔ ŋu. Ne ɖevia le tsitsim la, woate ŋu awɔ dodokpɔ geɖe wu be woakpɔe ɖa be tosese ƒe kuxia le tɔtrɔm hã.
• Nɔnɔmetatawo ɖeɖe : Wowɔa CT alo MRI fotoɖeɖe tsɔ dia xɔtunu siwo mesɔ o le to ememetɔ me. Le kpɔɖeŋu me, fotoɖeɖe siawo ate ŋu adi vestibular aqueducts (EVAs) siwo lolo alo tomeka si mesɔ o.
• Domenyiŋusẽfianu dodokpɔ : Ʋudodokpɔ be woatsɔ akpɔe ɖa be SLC26A4 domenyiŋusẽfianu ƒe tɔtrɔ le eme hã ate ŋu aɖo kpe dɔlélea dzi.

Ne goiter le viwòa ŋu la, ate ŋu ayi lãmenugbagbeviwo ƒe dɔwɔwɔ ŋuti nunyala hã gbɔ be wòalé ŋku ɖe ʋumenugbagbeviɣidɔ ƒe kuxiwo ŋu hã.

Aleke wodaa Pendred ƒe dɔléleae?

Ne míagblɔe tututu la, womekpɔ atike aɖeke na Pendred ƒe dɔlélea haɖe o . Gake tiatia geɖe li siwo dzi nàto akpɔ nɔnɔmea gbɔ. Atikewɔwɔ nɔ te ɖe nu geɖe dzi, abe nusiwo mesɔ o siwo le ɖevia ƒe to ememetɔ me kple alesi gbegbe tosese ƒe kuxia nu sẽe ene.

Atikewɔwɔ ƒe tiatia siwo woate ŋu azã na Pendred ƒe dɔlélea:

• Hehenana kple dzeɖoɖomɔnu: Ele be woakpe ɖe ɖevia ŋu wòasrɔ̃ mɔ bubu siwo dzi wòato aɖo dze kple ame bubuwo ahawɔ nu kpli wo, ke menye to tosese ɖeɖeko dzi o. Le kpɔɖeŋu me, nuwo abe tokunɔgbe ene.
• Tomemɔ̃ : Tomemɔ̃ alo tomeka si wotsɔ dea tome be wòakpe ɖe viwòa ŋu wòase nu nyuie wu.Ẽ, ate ŋu ahiã. Mɔ̃ siawo naa kpekpeɖeŋu ɖedzesi aɖe, ne mede ɖeke o la, ɖevia dzea gbeɖiɖiwo sese gɔme. Toŋutinunyala kple to, ŋɔti kple ŋɔti ŋuti nunyala bibi wɔa dɔ ɖekae kafua tosemɔ̃ si sɔ wu na ɖevia.
• Thyroid dɔdamɔnu : Ne thyroid si mewɔa dɔ nyuie o (hypothyroidism) le viwòa ŋu la, ahiã be wòano thyroid hormone pills (thyroid kpeɖeŋutɔtikewo). Ne goiter la lolo ŋutɔ la, ahiã be woawɔ dɔ nɛ (thyroidectomy).

Ne Pendred ƒe dɔlélea le vinye ŋu la, nukae wòle be makpɔ mɔ na?

Le Pendred ƒe dɔlélea ƒe akpa gãtɔ me la , tosese nu sẽna ɖe edzi vivivi (tosese vivivi) . Ðevi aɖewo ate ŋu abu woƒe to keŋkeŋ le ɣeyiɣi aɖe megbe. Ke hã, ale si esia nu sẽe la toa vovo tso ame ɖeka gbɔ yi bubu gbɔ. Ðevi geɖe zãa tomemɔ̃ alo tomeka siwo wotsɔ dea tomenuwo me be woate ŋu ase nu si sɔ kloe eye woanɔ agbe nyuie. Viwòa ƒe atikewɔlawo ƒe ƒuƒoƒoa aɖo aɖaŋu na wò le atikewɔwɔmɔnu nyuitɔwo kekeake siwo akpe ɖe viwòa ƒe to ŋu.

Nu vevitɔe nye be nàde dzesi nɔnɔme sia eye nàdze edada gɔme kaba ale si nàte ŋui. To mɔ sia dzi la, ɖevia ate ŋu asrɔ̃ ale si wòaɖo dze kple ame bubuwo eye wòakpɔ dzidzedze akpe ɖe ɖevi bubu siwo nye eƒe ƒemetɔwo ŋu.

Pendred ƒe dɔlélea nye dɔléle si nɔa ame ŋu le eƒe agbemeŋkekewo katã me. Ke hã, mefia be ɖevia mate ŋu ase ame bubuwo gɔme alo agblɔ woƒe susuwo o.

Aleke wòle be malé be na vinye?

Ne Pendred ƒe dɔlélea le viwò ŋu la, ele vevie be nàkpɔ eta tso abixɔxɔ le ta me abe ɖevi bubu ɖesiaɖe ene . Le kpɔɖeŋu me, gakuku dodo ne ele gasɔ dom ate ŋu akpe ɖe ame ŋu be wòaɖe afɔku si le ame ƒe to me tom zi ɖeka le abi si wòxɔ le ta le afɔku me ta la dzi akpɔtɔ. Nu suesuesue siawo tɔgbe ate ŋu ana tɔtrɔ gã aɖe nava.

Ɣekaɣie wòle be makpɔ ɖɔkta?

Mina míaɖee ɖa nenye be Pendred ƒe dɔlélea gbɔe wòtso alo nu bubu aɖee. Ne ède dzesi tɔtrɔ alo gbɔdzɔgbɔdzɔ aɖewo le viwò ƒe tosese ŋu la, ele be nàyi ɖɔkta gbɔ godoo. Elabena zi alesi nèkpɔ dɔlélea kaba la, zi nenemae nàte ŋu akpɔ tosese ƒe kuxia gbɔ kaba eye nàdze atikewɔwɔ gɔme. Ema le vevie ŋutɔ na ɖevia ƒe etsɔme.

Nya kawoe wòle be mabia vinye ƒe ɖɔkta?

Ne èyi ɖɔkta gbɔ la, nɔ klalo be yeabia nya siawo tɔgbe:

• Amekae anye atikewɔlawo ƒe ƒuƒoƒo si le vinyea dam la me? (e.g. ENT ɖɔkta, toŋutinunyala, domenyiŋusẽfianu ŋuti nunyala)
• Dzesi kawoe ɖee fia be vinye ƒe tosese le sesẽm ɖe edzi?
• Nukawoe nye atikewɔmɔnu siwo woate ŋu azã?
• Nukae nye atikewɔwɔ ƒe ɖoɖowɔɖi si nèdo ɖa?
• Nu bubu kawoe ate ŋu agblẽ nu le vinyea ƒe to ŋu? (e.g. toɣliɖeɖe sesẽwo, kamedefefe aɖewo)
• Dɔwɔnu kawoe li siwo akpe ɖe ɖeviwo kple dzilawo ŋu be woanɔ te ɖe tosese le woƒe ɖevime nu? (e.g., aɖaŋuɖoɖodɔwɔƒewo, kpekpeɖeŋunahawo)

Le Pendred ƒe dɔlélea ta la, ɖevi mate ŋu ase gbeɖiɖi siwo kpena ɖe eŋu be wòado ka kple nusiwo ƒo xlãe o. Gake esia mefia be ele be ɖevia naƒo asa na kadodo siawo tegbee o. Tomemɔ̃wo ate ŋu anye kpekpeɖeŋu gã aɖe na ɖevi geɖe siwo ŋu dɔléle sia le. Dzeɖoɖo ƒe ŋutetewo sɔsrɔ̃ le eƒe ɖevime ate ŋu akpe ɖe viwòa ŋu wòanɔ hadomenuwɔnawo me wu, eɖanye aleke kee woƒe to me gblẽ o. Viwò ƒe lãmesẽnyawo gbɔ kpɔha ate ŋu aƒo nu tso afɔ siwo mia kple wò ƒomea miate ŋu aɖe atsɔ akpe ɖe viwòa ŋu la ŋu na wò. Dzi nenɔ ƒowò, menye wò ɖeka koe o!

Nu vevi siwo dzi wòle be woaɖo ŋkui (Take-Home Message) .

• Pendred Syndrome nye domenyiŋusẽfianu ƒe dɔléle si koŋ nana ame ƒe to megasea nu nyuie o eye ɣeaɖewoɣi la, tome ƒe dɔléle hã.
• De dzesii kaba kple edada le vevie ŋutɔ. Esia ate ŋu ana ɖevia ƒe agbenɔnɔ nanyo ɖe edzi ŋutɔ.
• Togbɔ be atike aɖeke meli o hã la, mɔ aɖewo li siwo dzi woato akpɔ egbɔ. Esiawo dometɔ aɖewoe nye tomemɔ̃wo, nuƒoƒo ƒe dɔdamɔnu, kple ne ehiã la, dɔdamɔnu si nye thyroid.
• Ele vevie be míana lɔlɔ̃, kpekpeɖeŋu, kple dzideƒo na ɖevia. Esi nèle atikewɔlawo ƒe aɖaŋuɖoɖowo dzi wɔm la, kpe ɖe ɖevia ŋu wòanɔ agbe si sɔ, si me dzidzɔ le.
• Ta viwòa ta tso abixɔxɔ le ta me. Esia aɖe mɔnukpɔkpɔ si li be tosese ƒe kuxia nagblẽ ɖe edzi la dzi akpɔtɔ.

Ne nya bubu aɖewo gale asiwò ku ɖe esia ŋu la, mègavɔ̃ be yeaƒo nu kple wò ɖɔkta o. Wole klalo ɣesiaɣi be yewoakpe ɖe ŋuwò.

` Pendred syndrome, tosese ƒe kuxi, tonsillitis, domenyiŋusẽfianu ƒe dɔlélewo, ɖeviwo ƒe lãmesẽ, tomemɔ̃wo, thyroid