Ðe viwòa mele gbɔgbɔm nyuie oa? Mina míasrɔ̃ nu tso Congenital Central Hypoventilation Syndrome (CCHS) ŋu!

Ɣeaɖewoɣi la, dzilawo tsia dzi vie ne wokpɔ tɔtrɔ suesuesuewo le wo viwo ƒe gbɔgbɔ me, alo? Enye nusi sɔ be vɔvɔ̃ naɖo wò vie, vevietɔ ne edze abe viwòa le gbɔgbɔm alo le gbɔgbɔm sesĩe ŋutɔ esime wòle alɔ̃ dɔm ene. Egbea, míele nu ƒom tso nɔnɔme aɖe si mebɔ o si wòle be amesiame nanya ŋu. Ðɔktawo yɔa esia be `Congenital Central Hypoventilation Syndrome`, alo míayɔe be `(CCHS)` kpuie.

Nukae nye CCHS? Mina míase egɔme pɛpɛpɛ.

Kpuie ko la, `(CCHS)` nye nɔnɔme si mebɔ o si nɔa anyi le vidzidzi me eye wògblẽa nu le ŋutilã ƒe akpa mamlɛa ŋu. Nu vevitɔe nye be ŋutilãa megbɔa ya nyuie o, alo gbɔgbɔ ƒe tsɔtsɔme dzi ɖena kpɔtɔna. Nɔnɔme sia nu sẽna ŋutɔ ne wole alɔ̃ dɔm. Ðɔktawo yɔa esia be `(Hypoventilation)` (yaƒoƒo ƒe agbɔsɔsɔ fũ). Bu eŋu kpɔ, ne míegbɔ ya le mɔ nyuitɔ nu la, míaƒe lãkusiwo yaa ya eye wotsia yame be woaxɔ ɔksidzin eye woaɖe ya si woyɔna be carbon dioxide ɖa. Gake le amesi ŋu `(CCHS)` le gome la, gbɔgbɔ ƒe ɖoɖo sia, vevietɔ gbɔgbɔ si dzi ŋutilãa kpɔ ŋusẽ ɖo le dzɔdzɔme nu la, medzɔna nyuie o. Esia wɔe be oxygen ƒe agbɔsɔsɔ si le ʋua me dzi ɖena kpɔtɔna eye carbon dioxide ƒe agbɔsɔsɔ dzina ɖe edzi madzemadzee. Esia ate ŋu akpɔ ŋusẽ ɖe ŋutilãa ƒe ɖoɖo geɖe dzi.

`(CCHS)` nɔnɔme sia kpɔa ŋusẽ ɖe míaƒe ŋutilã ƒe autonomic nervous system `(Autonomic Nervous System)` dzi. Fifia ɖewohĩ ànɔ ɖokuiwò biam be nukae nye lãmeka sia si wɔa dɔ le eɖokui si hã. Bu eŋu kpɔ, ne míeku ʋu la, míewɔa nuwo abe tɔtrɔ `gear` kple `brake` le nyanya me. Gake nu aɖewo le míaƒe ŋutilã me dzɔna le wo ɖokui si, eye míebua wo ŋu gɔ̃ hã o. Abe gbɔgbɔ (míaƒe lãkusiwo wɔa dɔ ne míedɔ alɔ̃ gɔ̃ hã!), nuɖuɖu ɖuɖu, míaƒe dzi ƒoƒo, míaƒe ŋutilã ƒe dzoxɔxɔ dzi ɖuɖu, fifia, kple ŋkume ƒe ʋuʋu ne kekeli dze míaƒe ŋkuwo dzi ene. Lãmetsiŋusẽ si le eɖokui si ye kpɔa nusiawo katã dzi. Ne `(CCHS)` le mía si la, ekpɔa ŋusẽ ɖe ɖoɖo siawo siwo wowɔna le wo ɖokui si, siwo le vevie la dzi. Eyata tsɔ kpe ɖe gbɔgbɔ ŋu la, kuxiwo ate ŋu ado mo ɖa le nuwo abe:

• Ʋu ƒe sisi dzi ɖuɖu.
• Dɔgbo ƒe dɔwɔwɔ.
• Dzi ƒe tsotso.
• Ŋutilã ƒe dzoxɔxɔ dzi kpɔkpɔ.

Woyɔa nɔnɔme sia be ``(CCHS)`` kple ŋkɔ bubu geɖewo. Wò ɖɔkta ate ŋu azã ŋkɔ siawo dometɔ ɖeka hã, eyata anyo be nànya wo:

• ``Dzidzime Central Hypoventilation''.
• ``Dzidzime Dodokpɔ le Ðokuisidziɖuɖu Ŋu''.
• ``Yagbɔgbɔ ƒe Ʋuʋu ƒe Dodokpɔ si Wodzina''.
• `Haddad ƒe Dɔléle`
• Wogayɔnae ɣeaɖewoɣi hã be `Ondine ƒe Dɔléle`, `Ondine-Hirschsprung Dɔléle`, alo `Ondine ƒe Fiƒode`.

Aleke gbegbee CCHS bɔe?

Le nyateƒe me la, CCHS nye nɔnɔme si mebɔ kura o.Bu eŋu kpɔ, ame ʋɛ aɖewo ŋutɔ koe wokpɔ, siwo ade 1000 va ɖo 1200, le xexeame katã. Ke hã, dzɔdzɔmeŋutinunyalawo xɔe se be ɣeaɖewoɣi, le `(CCHS)` nɔnɔme siwo womekpɔ dze sii o ta la, ɖikeke nɔa anyi be vidzĩ siwo kuna kpata dometɔ aɖewo, si nye `Vidzĩwo ƒe Ku kpata ƒe Dɔléle (SIDS),` ate ŋu adzɔ. Eyae nye be, togbɔ be ate ŋu anye `(SIDS)` hã ​​la, nusi gbɔ wòtso ate ŋu anye `(CCHS)` hã. Eyata ele vevie ŋutɔ be míanya esia.

Nukae nye CCHS ƒe dzesiwo? Aleke nèwɔ dea dzesii?

Zi geɖe la, CCHS ƒe dzesi gbãtɔwo dzena le edziɣi alo le eƒe agbenɔƒe ƒe ɣleti ʋɛ gbãtɔwo me. Esiawoe nye dzesi vevi siwo woate ŋu akpɔ:

• Nuyiwo alo ŋutigbalẽ ƒe amadede blɔtɔ (Cyanosis): Esia sɔ kple oxygen ƒe anyimanɔmanɔ. Esia dzena vevietɔ ne vidzĩa le alɔ̃ dɔm.
• Yagbɔgbɔ edziedzi le alɔ̃dɔdɔ me (Hypoventilation): Gbɔgbɔ ate ŋu ase le eɖokui me be megoglo ŋutɔ alo le kabakabam. Ɣeaɖewoɣi gɔ̃ hã ate ŋu adze abe gbɔgbɔtsixe tsi anyi hena ɣeyiɣi aɖe ene.

Vevietɔ: Ne ède dzesi dzesi siawo la, ele be nàyi ɖɔkta gbɔ kaba.

Gake ɣeaɖewoɣi la, ne nɔnɔmea mesẽ nenema gbegbe o la, dzesi siawo ate ŋu adze le eƒe tsitsime. Alo, dzesi bubuwo ate ŋu ado mo ɖa. Kpɔe ɖa be nusiawo dometɔ aɖe le viwòa ŋu hã:

• Ŋku ƒe dɔmawɔmawɔ nyuie: Le kpɔɖeŋu me, alesi ŋkume ƒe ŋkume wɔa nui ɖe kekeli kple gbeɖiɖi ŋu ate ŋu dzi aɖe akpɔtɔ, ŋkuwo ate ŋu atso (strabismus), alo alesi nèkpɔa nu le adzɔge ʋĩi ate ŋu atrɔ (atrɔ alesi nèkpɔa nu le goglome).
• Vevesese dzi ɖeɖe kpɔtɔ: Nuveviwɔame sue aɖe gɔ̃ hã ate ŋu mase veve boo o.
• Tsitsi ƒe lãmetsiŋusẽ ƒe anyimanɔmanɔ: Vidzĩa ƒe tsitsi ate ŋu anɔ blewu wu ɖevi bubuwo.
• Fifia fifia fũu ko le susu aɖeke manɔmee.
• Dɔgbo ƒe nyawo: Dɔgbo ƒe ʋuʋu, dɔgbo ƒe ʋuʋu enuenu, eye ɣeaɖewoɣi la, dɔgbo sue alo dɔgbo gã ƒe xexe. Woate ŋu akpɔ Hirschsprung ƒe dɔléle (CCHS) hã le CCHS me.
• Ŋutilã ƒe Dzoxɔxɔ si bɔbɔ: Ametia ate ŋu ase le eɖokui me be vuvɔ le wɔwɔm ɣesiaɣi.
• Lãmetsiŋusẽ ƒe kuxiwo: Nuwo abe nusɔsrɔ̃ ƒe kuxiwo ene.
• Dzi ƒe tsotso kple ʋu ƒe sisi dzi ɖuɖu sesẽ.

Nukatae CCHS sia dzɔna? Nuka gbɔe wòtso?

Enyo, azɔ mina míakpɔ nusita nɔnɔme sia si woyɔna be `(CCHS)` dzɔna ɖa. Nusi koŋ gbɔ esia tsoe nye míaƒe domenyiŋusẽfianu aɖe ƒe tɔtrɔ. Woyɔa domenyiŋusẽfianu sia be `PHOX2B` (Fox-2-B) domenyiŋusẽfianu.`PHOX2B` domenyiŋusẽfianu sia le vevie ŋutɔ na protein si kpena ɖe lãmekawo ƒe lãmenugbagbeviwo ŋu, vevietɔ lãmenugbagbevi mawo siwo le autonomic nervous system si ŋu míeƒo nu tsoe la, tsina nyuie ne wole tsitsim le vidzidɔ me abe fugboe ene.

Le ame akpa gãtɔ siwo ŋu CCHS le gome la, domenyiŋusẽfianu ƒe tɔtrɔ sia nye tɔtrɔ yeye si dzɔna ɣeaɖewoɣi. Esia fia be menye vidada alo fofoa gbɔe domenyiŋusẽfianu ƒe tɔtrɔa nyi o, ke boŋ enye tɔtrɔ yeye si va ɖevia ƒe ŋutilã me. Gake le nɔnɔme ʋɛ aɖewo ko me la, woate ŋu atsɔe tso dzidzime yi dzidzime. Esia fia be domenyiŋusẽfianu ƒe tɔtrɔ sia le dzilawo dometɔ ɖeka ŋu eye ɖewohĩ ɖevia nyi dome.

Aleke nàwɔ anya kple kakaɖedzi be CCHS le ŋuwò? (Dɔléle ƒe dzesi) .

Mɔ ɖeka kolia si ŋu kakaɖedzi le wu si dzi nàto aɖo kpe edzi be CCHS le ŋuwòe nye be nàwɔ domenyiŋusẽfianu dodokpɔ akpɔe ɖa be tɔtrɔ aɖe le PHOX2B domenyiŋusẽfianu me hã. Esia koe nye mɔ si dzi ɖɔktawo ato aka ɖe edzi 100% nenye be dɔlélea le ŋuwò alo mele ŋuwò o.

Gake ɖɔktawo ate ŋu awɔ dodokpɔ bubu geɖewo be woase ŋusẽ si nɔnɔmea kpɔna ɖe ametia dzi eye woanya nusi gbɔ dzesiawo tso. Le kpɔɖeŋu me:

• Ʋudodokpɔ: Kpɔ nuwo abe oxygen kple carbon dioxide ƒe agbɔsɔsɔ le ŋutilãa me ɖa.
• Ne nuɖuɖumeŋusẽ ƒe kuxiwo ƒe dzesiwo le ŋuwò la, na woalé ŋku ɖe wo ŋu to dɔgbomekpɔmɔ̃ dzi , ɖewohĩ woatsɔ dɔgbomenuwo ɖeɖe ɖa .
• `Echocardiogram` si wotsɔ léa ŋku ɖe dzia ƒe dɔwɔwɔ ŋu.
• Nɔnɔmetatawo dodokpɔ abe X-ray, CT scan, alo MRI ene be woalé ŋku ɖe akɔta kple ƒodo me be woakpɔe ɖa be mɔxenu aɖewo li hã.
• Ophthalmologic Tests be woatsɔ akpɔ ŋkuawo ƒe nɔnɔme.
• Alɔ̃dɔdɔ Ŋuti Nusɔsrɔ̃ : Esia nye dodokpɔ vevi aɖe ŋutɔ. Le esia me la, wotsɔa ɖevia mlɔa xɔ tɔxɛ aɖe me le kɔdzi eye wotsɔa mɔ̃wo léa ŋku ɖe nu vovovowo abe gbɔgbɔ ƒe ɖoɖo, dzi ƒe tsotso, kple oxygen ƒe agbɔsɔsɔ ŋu.

Ðe woate ŋu ada CCHS keŋkeŋa?

Nyabiase si ame geɖe biana eye wodaa akɔ ɖe woƒe susu me enye nenye be woate ŋu ada `(CCHS)` keŋkeŋ. Ne míagblɔe tututu la, fifia la, atike aɖeke meli koŋ na `CCHS` o. Enye nɔnɔme si nɔa ame ŋu le eƒe agbemeŋkekewo katã me. Gake, mègatsi dzi o. Dɔdamɔnuawo ƒe taɖodzinue nye be woaɖu dzesiawo dzi, aɖe kuxi siwo ate ŋu ado mo ɖa dzi akpɔtɔ, eye woakpe ɖe dɔnɔa ŋu wòanɔ dedie, le dziɖeɖi me, eye wòanɔ nyuie alesi wòanya wɔe.

Nukae nye atikewɔwɔ na amesi ŋu CCHS le?

Ame geɖe siwo ŋu CCHS le hiã yagbɔgbɔ ƒe kpekpeɖeŋu le woƒe agbemeŋkekewo katã me.Ehiã. Woyɔa esia be `Yaƒoƒomɔ̃`. Ame aɖewo hiãe ŋkeke bliboa, ɣesiaɣi. Gake ne wodɔ alɔ̃ ko hafi ame bubuwo hiãe. Nusi `(Ventilator)` sia wɔna enye be wòakpe ɖe ŋutilã ŋu wòagbɔ ya le ɣeyiɣi aɖe me, abe alesi wòhiã ene. Esia ate ŋu ana oxygen ƒe agbɔsɔsɔ si le ʋua me nasɔ eye wòana ya si woyɔna be carbon dioxide ƒe agbɔsɔsɔ nagadzi ɖe edzi o.

Tsɔ kpe ɖe eŋu la, atikewɔwɔ bubu siwo kpena ɖe ame ŋu hã li. Atikewɔwɔ siawo toa vovo le ame ɖesiaɖe ƒe dzesiwo nu:

• Woate ŋu atsɔ ŋkumeɖonu, ŋkumeɖonu, alo amekoko gɔ̃ hã aɖɔ ŋku ƒe kuxiwo ɖo . Esiawo ate ŋu akpe ɖe ame ŋu hã be woakpɔ ŋkuwo ta tso kekeli si gbɔ eme me.
• Tsitsi ƒe Lãmetsiŋusẽ ƒe Atikewɔwɔ (GHT) na tsitsi ƒe tsitsi.
• Atike siwo woatsɔ aɖe nuɖuɖumeŋusẽ ƒe dzesiwo dzi akpɔtɔ (e.g., `Reflux`, `Constipation`).
• Kpɔ ʋu ƒe sisi kple dzi ƒe tsotso dzi to atike alo atikewɔwɔmɔnu bubuwo dzi .
• Wowɔa dodokpɔ siwo wowɔna edziedzi tsɔ dea dzesi lãmesẽkuxi bubu siwo do ƒome kplii kaba.

Atikewɔwɔ ƒe ɖoɖo sia ate ŋu abia be eŋutinunyala bibi vovovowo nado alɔe . Bu eŋu kpɔ, eŋutinunyala bibi aɖe li si sɔ na ame ɖesiaɖe ƒe kuxiwo. Ele vevie ŋutɔ be eŋutinunyala vovovowo abe esia ene naƒo ƒu awɔ nu ɖe ​​wo ŋu abe ƒuƒoƒo ene. Elabena `(CCHS)` menye nusi gblẽa nu le ŋutilã ƒe akpa ɖeka ko ŋu o. Eyata ne ame ɖesiaɖe zã eƒe nunya tsɔ kpɔ ɖevia ƒe kuxi vovovoawo gbɔ la, beléle si ɖevia xɔna la dea blibo wu. Le kpɔɖeŋu me:

• Dzidɔŋutinunyalawo na dzidɔ.
• ENT ŋuti nunyala bibiwoe daa to , ŋɔti, kple ŋɔti me kuxiwo .
• Lãmetsiŋusẽŋutinunyalawo nye lãmenugbagbeviwo ƒe dɔwɔwɔ ŋuti nunyala bibiwo le kuxi siwo do ƒome kple lãmetsiŋusẽ ŋu.
• Dɔgboŋutinunyalawo nye dɔgbo ƒe dɔlélewo ŋuti nunyala bibiwo le nuɖuɖumeŋusẽ ƒe kuxiwo ta.
• Ahɔhɔ̃ŋutinunyalawo bi ɖe ahɔhɔ̃a ƒe ŋusẽkpɔɖeamedzi kple nusɔsrɔ̃ me.
• Ŋkudɔdalawo daa ŋku ƒe dzesiwo.
• Ðɔkta siwo kpɔa dɔnɔwo gbɔ gbã (abe ɖeviwo ƒe dɔdalawo ene).
• Aklãŋutinunyalawo nye gbɔgbɔmekuxiwo ŋuti nunyala bibiwo .
• Nuƒoƒo Kple Gbegbɔgblɔ Ŋuti Dɔléleŋutinunyalawo.
• Hadomegbenɔnɔ Ŋuti Dɔwɔlawo (na susu kple hadomekpekpeɖeŋu si hiã la ƒomea).

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

Zi geɖe ne míele nu ƒom tso dɔléle aɖe ŋu la, míeƒoa nu tso ale si míakpɔ mía ɖokui ta tso eŋu hã ŋu. Ke hã, le `(CCHS)` gome la, womekpɔ mɔnu aɖeke si ŋu kpeɖodzi le si axe mɔ ɖe eƒe dzɔdzɔ nu o.Esi wònye be domenyiŋusẽfianu koŋ gbɔe wòtsona (trɔtrɔ le `PHOX2B` domenyiŋusẽfianu me) ta la, esesẽ vie be woaxe mɔ ɖe enu. Ke hã, ne `(CCHS)` le ƒomea me la, anyo be nàƒo nu kple ɖɔkta tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo kple dodokpɔ na ame bubuwo hã ŋu.

Aleke agbea anɔ le CCHS gome? Nu vevi siwo wòle be nànya

Ame si le CCHS ƒe agbenɔƒe kple nuwɔametɔnyenye si ate ŋu anɔ ame si ate ŋu ato vovo ŋutɔ. Enɔ te ɖe nusiwo nye dɔlélea ƒe sesẽme, ɣeyiɣi si wòxɔna hafi wodzea atikewɔwɔ gɔme, kple alesi atikewɔwɔa kpɔ dzidzedze dzi .

Gake ne wokpɔ dɔlélea kaba eye wodae nyuie eye wowɔe ɣesiaɣi , amesiwo ŋu CCHS si mesẽ o le ate ŋu anɔ agbe si me dzidzedzekpɔkpɔ le, si tsea ku, eye dzidzɔ le. Woate ŋu ayi suku, afe, eye woawɔ dɔ gɔ̃ hã ne wotsi. Gake ne dɔlélea nu sẽ, alo ne womewɔ atike nɛ nyuie o alo wohe ɖe megbe la, nuwɔametɔnyenye ɖedzesiwo, lãmesẽkuxiwo, kple agbenɔƒe si dzi ɖe kpɔtɔ ate ŋu adzɔ. Eyata , dɔlélea didi le ɣeyiɣi nyuitɔ dzi kple edada ɣesiaɣi le vevie ŋutɔ.

Esia le vevie ŋutɔ be míaɖo ŋku edzi: Anɔ bɔbɔe be lãmekawo ƒe dɔdzẽ ƒomevi aɖewo axɔ amesiwo ŋu CCHS le. Eyata ele vevie be woado wo kpɔ edziedzi be dɔdzẽ siawo ƒomevi le wo ŋu hã. Zi alesi wokpɔ wo dze sii kaba la, zi nenemae wo dada nɔa bɔbɔe wu. Ele be nàɖɔ ŋu ɖo vevietɔ le dɔdzẽ ƒomevi siawo ŋu:

• Ahɔhɔ̃mekawo ƒe dɔléle
• Ganglioneuroblastoma ƒe dɔléle
• `Ganglioneuroma`

Eyata mègaŋe aɖaba ƒu edzi be yeayi edzi awɔ dodokpɔ siwo woatsɔ ado ame kpɔ abe alesi ɖɔktaa kafui ene o.

Nya vevi siwo wòle be nàbia wò ɖɔkta tso CCHS ŋu

Ne wokpɔ CCHS le ŋuwò alo wò ƒomea me tɔ aɖe la, kpɔ egbɔ be yebia nya siawo wò ɖɔkta. Esiawo akpe ɖe ŋuwò nàse nɔnɔmea gɔme eye nàwɔ ɖoɖo ɖe wò afɔɖeɖe siwo kplɔe ɖo ŋu:

• "Aleke gbegbee nye/vinye ƒe `(CCHS)' nu sẽe?"
• "Ŋutilã ƒe ɖoɖo kawo (e.g., gbɔgbɔ, dzi, dɔgbo) siwo dzi nye/vinye ƒe `(CCHS)` nɔnɔmea kpɔa ŋusẽ ɖo?"
• "Eŋutinunyala bibi ka ƒomevie wòahiã be mía/míakpɔ? Zi nenie wòle be makpɔ wo?"
• "Ðe nye/vinye hiã `Yaƒoƒomɔ̃`? Ne ele nenema la, ɖe wòle be mazãe ɣesiaɣi, alo ne mele alɔ̃ dɔm ko?"
• "Zi nenie wòle be mawɔ dodokpɔwo atsɔ alé ŋku ɖe nye ŋkuwo, dzi, lãkusi, nuɖuɖumeŋusẽ, kple ŋutilã ƒe dɔwɔwɔ bubuwo ŋu?"
• "Zi nenie wòhiã be mawɔ dodokpɔ le dɔdzẽ mawo siwo megblɔ va yi ŋu?"
• "Ðe wònye susu nyui aɖe be nye ƒomea me tɔ mamlɛawo (e.g. nɔviwo, dzilawo) nawɔ domenyiŋusẽfianu dodokpɔa?"

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

Togbɔ be CCHS nye dɔléle si doa vɔvɔ̃ na ame vie eye mebɔ o hã la, woate ŋu aɖu edzi ne wona nènya nyuie eye wodze atikewɔwɔ gɔme ɖe game dzi. Nu vevitɔe nye be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo enumake ne ènya de dzesi dzesiawo ko, vevietɔ ne ède dzesi nane si mebɔ o le viwò suea ƒe gbɔgbɔ me, abe cyanosis ene. Nu vevitɔ kekeakee nye be menye be nàtsi dzodzodzoe o, ke boŋ be nàwɔ nu kaba.

Agbenɔnɔ kple nɔnɔme sia ate ŋu asesẽ na ƒomewo, nyateƒee. Gake ɖo ŋku edzi be menye wò ɖeka koe o. Ðɔktawo, dɔnɔdzikpɔlawo, atikewɔlawo, kple lãmesẽdɔwɔla bubuwo le afima be yewoakpe ɖe mia kple viwòa ŋu ahafia mɔ wò. Ne ɖevi si ŋu CCHS le le atikewɔwɔ me nyuie, beléle na ƒomea lɔlɔ̃tɔe, eye nɔnɔme nyui le esi la, ate ŋu anɔ agbe si me dzidzɔ le, si sɔ alesi wòate ŋui. Mègavɔ̃ be yeabia nya, yeadi nyatakakawo, eye yeana nusi nyo na viwòa o.

` CCHS, Congenital Central Hypoventilation Syndrome, congenital respiratory distress syndrome, autonomic nervous system, PHOX2B domenyiŋusẽfianu, gbɔgbɔtsixe ƒe kpekpeɖeŋu, vidzĩwo ƒe lãmesẽ, cyanosis, domenyiŋusẽfianu dodokpɔ