Ðe nètsi dzi vie ɖe viwò ƒe kɔkɔme ŋua? Mina míaƒo nu tso dwarfism (Dwarfism / Skeletal Dysplasia) kple nu bubu siwo hea ame ƒe kɔkɔme kpui vɛ ŋu

Ðe viwòa le kpuie vie wu ɖevi bubuwoa? Alo ɖe nèsusu be woƒe abɔwo le kpuie wu ne wotsɔe sɔ kple woƒe ŋutilã ƒe akpa mamlɛa? Ɣeaɖewoɣi la, nusiawo ate ŋu anye nusiwo sɔ. Gake ɣeaɖewoɣi la, woate ŋu anye dɔléle aɖe ƒe dzesiwo. Egbea míele nu ƒom tso nɔnɔme sia tɔgbe, dwarfism , alo le atikewɔwɔ me la , ƒumeŋuɖui ƒe dɔmawɔmawɔ nyuie, kple nu bubu siwo hea ame ƒe kɔkɔme kpui vɛ ŋu. Mègatsi dzi o, ele vevie ŋutɔ be nànya esia.

Kpuie ko la, nukae nye dwarfism?

Dwarfism, alo nusi míeyɔna be Skeletal Dysplasia , menye dɔléle ɖeka ko ŋutɔŋutɔ o. Enye atikewɔwɔ me nya si wozãna le mɔ gbadza nu si me nɔnɔme alafa geɖe siwo gblẽa nu le ƒuwo kple ƒunukpeƒewo ƒe tsitsi ŋu le. Nɔnɔme siawo koŋue nana ame ƒe kɔkɔme dzi ɖena kpɔtɔna, alo eƒe kɔkɔme nɔa kpuie. Zi geɖe la, amesi ŋu dɔléle sia le ƒe kɔkɔme medea afɔ 4 kple sentimeta 10 (meta 1.47) o ne eva tsi.

Ame aɖewo lɔ̃a nya "ame suewo" zazã tsɔ ɖɔa amesiwo ŋu dɔléle sia le. Ke hã, nyawo abe "midgets" zazã mesɔ kura o, elabena ate ŋu agblẽ nu le woƒe seselelãmewo ŋu.

Dwarfism ƒomevi vovovowo li. Nɔnɔme siawo ate ŋu akpɔ ŋusẽ ɖe ƒu siwo le míaƒe ŋutilã ƒe akpa vovovowo, vevietɔ abɔwo, afɔwo, ƒodo, kple ta, ƒe tsitsi dzi.

Nukawoe nye ƒumeŋuɖui ƒe dɔmawɔmawɔ nyuie ƒomevi siwo bɔ wu?

Dwarfism ƒomevi alafa geɖe li siwo kpɔa ŋusẽ ɖe ƒu ƒe tsitsi dzi. Wo dometɔ ʋɛ aɖewoe nye esi:

• Achondroplastic dwarfism: Esiae nye dwarfism ƒomevi si bɔ wu. Afɔ kpuiwo kple ŋgonu si dzena nyuie ye nye nu vevitɔwo.
• Hypochondroplasia dwarfism: Esia hã nye dwarfism ƒomevi fafɛ aɖe si ƒe abɔwo le kpuie. Gake eƒe dzesiwo medzena le vidzĩme nenema gbegbe o.
• Pituitary dwarfism: Esia tsoa tsitsi ƒe lãmetsi ƒe anyimanɔmanɔ gbɔ .
• Primordial dwarfism: Le ƒomevi sia me la, ŋutilãa le sue tso do ŋgɔ na wo dzidzi kple le agbe ƒe akpa ɖesiaɖe.
• Thanatophoric dysplasia: Esia nye dwarfism ƒomevi aɖe si mebɔ o eye wòsẽ ŋutɔ . Le nɔnɔme sia me la, abɔwo le kpuie ŋutɔ eye akɔta hã le kpuie ŋutɔ. Zi geɖe la, vidzĩ siwo ŋu dɔléle sia le kuna le ŋkeke ʋɛ aɖewo megbe tso esime wodzi wo le gbɔgbɔtsixe ƒe kuxiwo ta.

Bu eŋu ale: ƒu siwo le míaƒe ŋutilã me le abe sɔti siwo wotsɔ tu xɔe ene. Ne tɔtrɔ aɖe va sɔti siawo ƒe tsitsi me la, ɖeko wòle abe ɖe aƒe bliboa ƒe nɔnɔme kple kɔkɔme trɔ ene.

Nuka tututue "Short Stature" fia?

Nya "kɔkɔme kpui" fia ame ƒe kpuie wu alesi wokpɔ mɔe ne wotsɔe sɔ kple ame bubu siwo xɔ ƒe ɖeka.Le ɖevi suewo gome la, esia ate ŋu afia be woƒe kɔkɔme mede tsitsi ƒe ɖoɖo si sɔ nu o, alo be woƒe kɔkɔme mede esi wokpɔ mɔ na o le wo dzilawo ƒe kɔkɔme nu.

Nu vovovowoe dea dzesi ame ƒe kɔkɔme (alo eƒe didime le vidzĩ gome). Esiawo dometɔ aɖewoe nye nuwo abe dzilawo ƒe kɔkɔme, woƒe kpekpeme, kple lãmetsiŋusẽ ƒe agbɔsɔsɔ ene. Domenyiŋusẽfianu vovovowo hã ate ŋu atso ame ƒe kɔkɔme ƒe kpuiƒe.

Ameka dzie dwarfism gblẽa nu le wu?

Skeletal Dysplasia ate ŋu adze ame sia ame dzi. Eƒe ƒomevi aɖewo nye domenyiŋusẽfianu . Ema fia be woate ŋu anyi wo dome tso dzilawo gbɔ. DNA ƒe tɔtrɔ le vome gbɔe ƒomevi bubuwo tsona. Zi geɖe, gake menye ɣesiaɣie o, dzila siwo ƒe kɔkɔme sɔ gbɔe wodzia ɖevi siwo ŋu dwarfism le.

Aleke gbegbee nɔnɔme sia bɔe?

Skeletal Dysplasia nye dɔléle si mebɔ o. Dɔlékui ƒomevi si bɔ wu, si nye achondroplasia, dzea ame ɖeka le ame 15,000 va ɖo 40,000 ɖesiaɖe me.

Aleke dwarfism kpɔa ŋusẽ ɖe wò ŋutilã dzii?

Skeletal Dysplasia gblẽa nu le wò ƒuwo ƒe tsitsi ŋu . Ƒu didi siwo le wò abɔwo kple afɔwo ŋue wògblẽa nu le wu. Gake ƒu bubuwo, siwo dome wò ƒodo kple ta me hã le, ate ŋu agblẽ nu le wo ŋu. Dwarfism ƒe dzesiwo ate ŋu akpɔ ŋusẽ ɖe wò ŋutilã ƒe akpa bubuwo dzi. Ate ŋu ahe lãmesẽkuxi siwo nɔa anyi didi hã vɛ, abe lãmekawo ƒe dɔwɔwɔ ƒe gbɔdzɔgbɔdzɔ alo dɔlékuiwo xɔxɔ enuenu ene .

Nukawoe nye dwarfism ƒe dzesiwo?

Ƒumeŋuɖui ƒe dzesi vevitɔ kple esi bɔ wue nye ame ƒe kɔkɔme kpui. Zi geɖe la, amesi ŋu dɔléle sia le ƒe kɔkɔme medea afɔ 4 kple sentimeta 10 (meta 1.47) o ne eva tsi. Kɔkɔme kpui sia dzena le ame tsitsiwo kple ame tsitsiwo me wu le ɖevime.

Nusiwo hea ame ƒe kɔkɔme kpui vɛ ƒe akpa gãtɔ sɔ kple wo nɔewo . Eyae nye be ŋutilã bliboa le kpuie, ke menye akpa ɖeka ko o. Gake le dwarfism ƒomevi aɖewo me la, kɔkɔme kpui sia mesɔna o . Eyae nye be akɔta ƒe lolome sɔ gake abɔwo kple afɔwo le kpuie.

Dwarfism ƒe dzesi bubuwo ate ŋu anye:

• Afɔ siwo wobɔbɔ.
• Flat nasal bridge (ƒu ƒe akpa si le ŋɔti tame).
• Ta gã aɖe.
• Ŋgonu si dze ƒã.
• Abɔ kple afɔ kpuiwo.
• Asibidɛ kpuiwo kple afɔbidɛwo.
• Asi kple afɔ siwo keke.

Ɣeaɖewoɣi la, ƒu ƒe tsitsi si mesɔ o ate ŋu ahe lãmesẽkuxi bubuwo vɛ tsɔ kpe ɖe dzesi siawo ŋu. Le kpɔɖeŋu me:

• Tsi ƒe ƒuƒoƒo ɖe ahɔhɔ̃a ŋu (Hydrocephalus).
• Lãmetsi siwo woƒo ɖe lãme na ame.
• Scoliosis ƒe dɔléle.
• To me dɔlékuiwo alo tosese ƒe kuxiwo.
• Klo kple afɔkpodzi ƒe vevesese.
• Alɔ̃dɔdɔ ƒe gbɔgbɔtsixetsixe.

Nukawoe hea dwarfism vɛ?

Skeletal Dysplasia ate ŋu atso nu vovovowo gbɔ. Zi geɖe la, ame ƒe DNA ƒe tɔtrɔ (domenyiŋusẽfianu ƒe tɔtrɔ) gbɔe wòtsona . Gake womenya nusi tututu gbɔ ƒomevi aɖewo tsona haɖe o.

Susu vevi geɖewo tae:

• Ƒome ŋutinya: Ne dzilawo kple ƒomea me tɔ bubuwo le kpuie la, ate ŋu asɔ be ɖevia hã nanɔ kpuie.
• Domenyiŋusẽfianu ƒe tɔtrɔ: Tɔtrɔ siwo dzɔna le ame ƒe DNA me.
• Tsitsi ƒe lãmetsi ƒe anyimanɔmanɔ: Ahɔhɔ̃a mewɔa lãmetsi si hiã na ƒu ƒe tsitsi wòade edeƒe o.
• Late bloomer / constitutional delay: Ðevi aɖewo tsina emegbe wu wo hatiwo. Ɣeaɖewoɣi la, tsitsi ƒe nɔnɔme sia ate ŋu anɔ ƒomea me tɔ bubuwo hã si.
• Nunyuimakpɔɖui: Nunyiame si sɔ makpɔmakpɔ ate ŋu agblẽ nu le ɖevi ƒe tsitsi ŋu.
• Sue na fufɔfɔ ƒe ƒe: Vidzĩ akpa gãtɔ siwo le sue le wo dziɣi la aɖo tsitsi si sɔ gbɔ le ƒe eve va ɖo etɔ̃ me, gake abe 10% ene ya meɖoa tsitsi si sɔ gbɔ o.

Ðe domenyiŋusẽfianu gbɔe dwarfism tsoa?

Ẽ, domenyiŋusẽfianu ƒomevi aɖewo (siwo tso Skeletal Dysplasia gbɔ) nye domenyiŋusẽfianu. Eyae nye be DNA ƒe tɔtrɔ gbɔe wotso. Zi geɖe la, domenyiŋusẽfianu ƒe tɔtrɔ sia nyea nusi dzɔna le vome, ke menye nusi ƒe dome wonyi tso dzila kpuiwo gbɔ o. Eyae nye be ɖevi akpa gãtɔ siwo ŋu dwarfism le la dzilawo ƒe kɔkɔme sɔ.

Gake ne dzila ɖeka alo wo ame evea siaa ƒe lãme sẽ la, anɔ eme be ɖevia anyi nɔnɔmea ƒe dome. Enɔ te ɖe dwarfism ƒomevi dzi. Le kpɔɖeŋu me, ne achondroplasia le vidada alo vifofo ŋu la, mɔnukpɔkpɔ 50% le ɖevia si be wòanyi dɔlélea ƒe dome. Ne dzila eveawo siaa ƒe achondroplasia le eŋu la, mɔnukpɔkpɔ 25% le ɖevia si be wòaxɔ dwarfism sesẽ aɖe si woyɔna be homozygous achondroplasia (si me ɖevia dzi ku alo kuna le edzidzi megbe kpuie) eye mɔnukpɔkpɔ 50% be achondroplasia si sɔ nanɔ eŋu.

Ne èle ɖoɖo wɔm be yeafɔ fu eye nèdi be yeanya afɔku si le viwòa ƒe domenyinyi ƒe dɔléle aɖe abe achondroplasia alo dwarfism ƒomevi bubu ene ŋu la, ƒo nu tso domenyiŋusẽfianu dodokpɔ ŋu na wò ɖɔkta .

Aleke woawɔ ade dzesi dwarfism?

Le go aɖewo me la, ɖɔktawo te ŋu dea dzesi ƒunukpeƒetetedɔ hafi wodzia vidzĩ. Le fufɔɣi la, ɖɔktawo zãa dodokpɔ siwo wowɔna do ŋgɔ na vidzidzi tsɔ dea dzesi nusiwo mesɔ o le vidzĩa ƒe tsitsi me.

Ne wodzi vidzĩa vɔ la, ɖɔktaa alé ŋku ɖe vidzĩa ƒe tsitsi ŋu le ƒe sia ƒe ƒe lãmesẽnyawo gbɔ kpɔkpɔ me. Ne womede dzesi vidzĩ ƒe nɔnɔme le edziɣi o, ne vidzĩa to tsitsi ƒe dzesi veviwo me , ate ŋu anye nɔnɔmea ƒe dzesi eye woate ŋu ade dzesii emegbe. Dodokpɔ bubuwo, abe X-ray kple ʋudodokpɔ ene, ate ŋu akpe ɖe ɖɔkta ŋu wòanya nusita vidzĩa mele tsitsim le agbɔsɔsɔ si sɔ me o. Aleae wowɔa dɔlélea didie.

Nukawoe nye atike siwo wozãna na dwarfism?

Esi wònye be womekpɔ atike aɖeke koŋ na ƒumeŋuɖui ƒe dɔmawɔmawɔ nyuie o ta la, woƒe taɖodzinue nye be woatsɔ aɖu dzesi siwo le etɔxɛ na ame ɖesiaɖe kple dɔléle si wokpɔna la dzi.

Amekoko ƒe atikewɔwɔ be woatsɔ aɖu dzesiawo dzi ate ŋu anye:

• Amekoko be woatsɔ aɖɔ ƒu alo ƒu siwo le tsitsim le mɔ si mesɔ o nu ƒe nɔnɔme ɖo.
• Tsi si sɔ gbɔ ɖe ahɔhɔ̃a ŋu ɖeɖeɖa (amekoko na tsi ƒe tagbɔdɔ).
• Amekoko be woaɖe ahɔhɔ̃a ƒe ke (ahɔhɔ̃a ƒe akpa si do ƒome kple aklã ƒe ka) ƒe nyaƒoɖeamenu dzi akpɔtɔ.
• Amekoko be woaɖe tonsils kple/alo adenoids ɖa be gbɔgbɔ nanɔ bɔbɔe.
• Tuwo dede to me be woaxe mɔ ɖe to me dɔlékuiwo xɔxɔ nu.

Dɔdamɔnu bubu siwo menye amekoko o dometɔ aɖewoe nye:

• CPAP (Continuous Positive Airway Pressure) mɔ̃ zazã atsɔ ada alɔ̃dɔdɔ ƒe gbɔgbɔtsixetsixe .
• Tomemɔ̃wo zazã atsɔ ana nusese nanyo ɖe edzi.
• De nuɖuɖu nyui kple kamedede ƒe dzi ƒo be woaxe mɔ ɖe lolo akpa alo lolo akpa (BMI 30 alo esi wu nenema) nu.
• Tsitsi ƒe lãmetsi (hormone therapy) nana abe tsitsi ƒe lãmetsi ƒe anyimanɔmanɔ ƒe atike ene.
• Le ƒe 2021 me la, United States ƒe Nuɖuɖu Kple Atike Ŋuti Dɔwɔƒe da asi ɖe atike si nye Vosoritide (Voxzogo®) dzi be woazã na ɖevi siwo xɔ wu ƒe 5 siwo ŋu achondroplasia le siwo ƒe ƒu ƒe tsitsi ƒe agbawo metu haɖe o (i.e., woƒe tsitsi mewu enu haɖe o). Le dɔdamɔnu dodokpɔ aɖe me la, atike si nye Vosoritide kpe ɖe ɖeviwo ŋu wotsi kabakaba.

Ðo ŋku edzi be atikewɔmɔnu siawo ate ŋu ahiã le eƒe agbemeŋkekewo katã me, gake woate ŋu ana ame ƒe agbenɔnɔ nanyo ɖe edzi ŋutɔ.

Aleke mawɔ aɖe vinye ƒe afɔku si le dwarfism xɔxɔ me dzi akpɔtɔ?

Esi wònye be domenyiŋusẽfianu ƒe ƒunukpeƒetetedɔ ƒomevi aɖewo tso ta la, mɔ aɖeke meli si dzi woato axe mɔ ɖe nɔnɔme sia nu o negbe ɖe ɖɔkta wɔ dodokpɔ aɖe, abe domenyiŋusẽfianu dodokpɔ do ŋgɔ na wo dodo ene . Anyo wu be nàbia wò ɖɔkta tso domenyiŋusẽfianu dodokpɔ ŋu be nànya afɔku si tututu le viwòa ŋu le domenyiŋusẽfianu ƒe dɔléle abe dwarfism ene me.

Nunyiame na ɖeviwo ƒe tsitsiNya si nègblɔ la le vevie ŋutɔ. Ne èfɔ fu la, kpɔ egbɔ be yeɖu nuɖuɖu si da sɔ. Le vidzĩa dzidzi vɔ megbe gɔ̃ hã la, ehiã be nàna nuɖuɖu vovovo siwo naa lãmesẽ, siwo sɔ ɖe eƒe ƒexɔxɔ nu, abe protein, atikutsetsewo, nukuwo, kple amagbewo ene. To mɔ sia dzi la, nunyiame siwo katã wòhiã be wòatsi la asu esi.

Nukae nàte ŋu akpɔ mɔ na ne vi si ŋu dwarfism le le asiwò?

Togbɔ be womekpɔ atike aɖeke koŋ na ƒumeŋuɖui ƒe dɔmawɔmawɔ nyuie o hã la, ame geɖe siwo ƒe kɔkɔme le kpuie la nɔa agbe si sɔ eye wole lãmesẽ nyui me ne wowɔ atike na wo be woaɖu woƒe dzesiwo dzi. Gake nɔnɔme sia ƒe dzesi aɖewo ate ŋu asesẽ na ɖevia kple ƒomea, vevietɔ ne ƒu ƒe tsitsi si mesɔ o bia be woawɔ dɔ nɛ zi geɖe. Wò ɖɔkta awɔ dɔ kplikplikpli kple wò kple viwòa be wòana atike si viwòa hiã be wòanɔ agbe si me dzidzeme le eye wòanɔ lãmesẽ me.

Nukae nye ame si ŋu dwarfism le ƒe agbenɔƒe?

Le dwarfism ƒomevi akpa gãtɔ me la, woate ŋu akpɔ mɔ be agbenɔƒe si sɔ nanɔ anyi ne wowɔ atike na ame be wòaɖu dzesiawo dzi. Gake nublanuitɔe la, le ƒomevi aɖewo me la, woate ŋu aɖe agbenɔƒe dzi akpɔtɔ.

Aleke malé be na vinye si ŋu ƒunukpeƒetetedɔ le?

Tsɔ kpe ɖe viwòa ƒe atikewɔwɔ ƒe nuhiahiãwo gbɔ kpɔkpɔ ŋu la, àte ŋu ado alɔ viwòa to nu siwo gbɔna wɔwɔ me, ana nɔnɔme nanɔ aƒeme si axɔ ame nyuie eye wòana woakpɔ gome le nusianu me:

• Mɔxenu ŋutɔŋutɔwo ɖeɖeɖa le aƒeme ale be ɖevia nate ŋu awɔ dɔ le eɖokui si (le kpɔɖeŋu me, aɖuɖɔtoe ƒe amesinɔnɔ, akaɖi ƒe ʋuƒoa ɖiɖi).
• Hehenana kple/alo susuŋutinunya ƒe kpekpeɖeŋu nana be woatsɔ axe mɔ ɖe anyrawɔwɔ le ɖevi bubuwo ŋu le suku alo anɔ te ɖe enu .
• Azɔ hã, kadodo kple habɔbɔ siwo kpena ɖe ɖeviwo ŋu le dɔléle siwo wokpɔ le wo ŋu me.

Abe dzilawo ene la, ele be míawɔ nu ɖe ​​mía viwo ŋu le woƒe ƒexɔxɔ nu, ke menye woƒe kɔkɔme nu o. Esia le vevie ŋutɔ.

Nya kawoe wòle be nàbia ɖɔktaa?

Ne dɔléle sia le viwòa ŋu la, àte ŋu abia nyawo abe:

• Ðe wòhiã be woawɔ dɔ na vinyea ƒe dzesiwoa?
• Aleke mate ŋu akpe ɖe vinyea ŋu be wòaxe mɔ ɖe to me dɔlékuiwo xɔxɔ nu?
• Ðe atikewɔmɔnu siwo nèkafu ƒe nugbegblẽ le ame ŋu aɖewoa?
• Ɣeyiɣi didi kae wòhiã be vinye nano tsitsimeŋusẽ?

Mlɔeba la, nu siwo dzi wòle be woaɖo ŋkui

Ne wokpɔe be Skeletal Dysplasia le viwòa ŋu eye wòhiã be woawɔ dɔ nɛ alo awɔ atike nɛ ɣeyiɣi didi aɖe be wòakpɔ eƒe dzesiwo gbɔ hã la, mefia be mate ŋu anɔ agbe blibo si ŋu gɔmesese le o. Abe dzila alo dɔnɔdzikpɔla ene la, ele be nàwɔ nu ɖe ​​viwòa ŋu le ƒe si wòxɔ nu, ke menye eƒe kɔkɔme nu o. Esia akpe ɖe viwòa ŋu wòade bubu eɖokui ŋu eye wòase le eɖokui me be woxɔ ye eye wolɔ̃ ye.

Ne ènye ame tsitsi si ŋu tagbɔdɔléle le la, kpekpeɖeŋunaha nyui aɖe ƒe amesinɔnɔ, wò dzesiwo dzi kpɔkpɔ, kple agbenɔnɔ si me lãmesẽ le ate ŋu akpe ɖe ŋuwò nànɔ agbe si me blibodede kple dɔmedzoedoname le.

` dwarfism, ƒumeŋuɖui ƒe dysplasia, kpuie, dwarfism, kpuie, ƒu ƒe tsitsi, domenyiŋusẽfianu ƒe dɔlélewo