Ðe nane si le abe esia ene le fu ɖem na viwòa? Mina míasrɔ̃ nu tso Congenital Adrenal Hyperplasia (CAH) ŋu!

Ɣeaɖewoɣi ne èlé ŋku ɖe vidzĩ si wodzi yeyee ŋu, alo ɖevi si le tsitsim vie la, ɖewohĩ ède dzesi tɔtrɔ aɖewo. Ðewohĩ ɖɔkta aɖe gblɔ na wò be dɔléle aɖe le viwò ŋu si woyɔna be `(Congenital Adrenal Hyperplasia)` alo `(CAH)`. Mègavɔ̃ ne èse ŋkɔ sia o. Togbɔ be esesẽ vie hã la, mina míaƒo nu tso eŋu le Sinhalagbe bɔbɔe si gɔme woate ŋu ase me. Abe ale si ko nèle nu ƒom na xɔ̃wòa ene.

Nukae nye adrenal hyperplasia (CAH) si wodzina?

Kpuie ko la, CAH nye dɔléle si míedzina, alo domenyiŋusẽfianu, si gblẽa nu le míaƒe ŋutilã ƒe adrenal glands koŋ ŋu. Èɖo ŋku edzi be lãkusi sue eve le míaƒe ayikuwo tamea? Emae nye nusi míeyɔna be adrenal glands . Togbɔ be wole sue hã la, wowɔa lãmetsi vevi geɖe siwo hiã vevie be míaƒe ŋutilã nawɔ dɔ nyuie.

Na míakpɔ nusiwo nye lãmetsiŋusẽ siawo ɖa:

• Cortisol: Lãmetsi sia kpena ɖe míaƒe ŋutilã ŋu wònɔa te ɖe nuteɖeamedzi, dɔléle, kple abixɔxɔ nu. Ele vevie hã na nuwo abe ʋu ƒe sisi, ŋusẽ ƒe agbɔsɔsɔ, kple sukli ƒe agbɔsɔsɔ le ʋu me ƒe ɖoɖowɔwɔ.
• Aldosterone: Lãmetsi sia kpena ɖe mía ŋu be dze (sodium) kple tsi agbɔsɔsɔme si sɔ nanɔ míaƒe ŋutilã me. Ehiã hã be woatsɔ akpɔ ʋu ƒe sisi kple ʋu ƒe agbɔsɔsɔ dzi.
• Androgens: Esiawoe nye ŋutsu ƒe gbɔdɔdɔ ƒe lãmetsiwo (le kpɔɖeŋu me, testosterone). Lãmetsiŋusẽ siawo le vevie na sɔhɛmenɔɣi, tsitsi nyuie, kple tsitsi.

Fifia, nusi dzɔna ɖe amesi ŋu `(CAH)` le dzi enye be enzyme siawo dometɔ ɖeka alo esi wu nenema si kpena ɖe adrenal glands ŋu be woawɔ lãmetsi vevi mawo dzi ɖena kpɔtɔna alo bu. Enzyme sia manɔmee la, adrenal glands mate ŋu awɔ dɔ nyuie o. Ɣe ma ɣi:

• Ðewohĩ mèle cortisol si sɔ wɔm o .
• Ate ŋu adzɔ be womewɔa aldosterone si sɔ gbɔ o.
• Ðewohĩ wowɔa androgen si sɔ gbɔ akpa.

Lãmetsiŋusẽ ƒe masɔmasɔ siae nye nusi dzɔna koŋ le nɔnɔme si nye `(CAH)` me.

Nukae nye `(CAH)` ƒe ƒomevi vevitɔwo?

CAH ƒomevi vevi eve li. Ƒomevi eve siawo nye dɔléleawo ƒe 95%.

1. Classic CAH: Esiae nye CAH ƒe ƒomevi si nu sẽ wu eye wòsesẽ wu . Ate ŋu ahe kuxi sesẽ siwo ku ɖe adrenal glands ŋu vɛ, abe dzidziƒoame kple alɔ̃madɔmadɔ gɔ̃ hã ene. Ate ŋu ade ame ƒe agbe afɔku me ne womekpɔe dze sii hedae kaba o. Zi geɖe la, wokpɔa CAH ƒe nɔnɔme sia si wonya nyuie la le vidzidzi me.

Esia hã ƒe ƒomevi sue eve:

• Dze-gblẽ CAH: Esiae nye nusi le (CAH) me .Eƒe nɔnɔme si nu sẽ wu . Le go sia me la, adrenal glands la wɔa aldosterone, si mebɔ kura o. Ne aldosterone bu la, ŋutilãa mete ŋu ɖua dze (sodium) ƒe agbɔsɔsɔ si le ʋua me dzi o. Esia wɔnɛ be sodium si sɔ gbɔ la dona le aɖuɖɔ me. Tsɔ kpe ɖe eŋu la, womewɔa cortisol hã fũ o, gake androgens ya dona wu.
• CAH si nye virilizing bɔbɔe: Esia nye CAH ƒomevi aɖe si fa wu . Le go sia me la, aldosterone ƒe anyimanɔmanɔ mesẽna nenema gbegbe o. Eyata dzesi aɖeke meli si ate ŋu ade ame ƒe agbe afɔku me o. Gake cortisol ƒe wɔwɔme mesɔ gbɔ o eye androgen ƒe wɔwɔme sɔ gbɔ wu. Androgen ƒe wɔwɔ fũ sia ate ŋu ahe dzesi siwo do ƒome kple gbɔdɔdɔ ƒe tsitsi vɛ.

2. CAH si menye klassik o: Esiae nye CAH ƒe ƒomevi si fa wu . Zi geɖe la, edzena le ɖevimenɔɣi ƒe nuwuwu, ƒewuiwo, alo tsitsime. Dzesiwo ate ŋu anɔ anyi alo manɔ anyi o. Esia ate ŋu atso androgen ƒe wɔwɔ fũ hã gbɔ, si ate ŋu ahe dzesi siwo do ƒome kple gbɔdɔdɔ ƒe tsitsi vɛ.

Tsɔ kpe ɖe ƒomevi vevi siawo ŋu la, CAH ƒomevi bubu geɖe siwo mebɔ o hã li, eye wo dometɔ ɖesiaɖe ƒe dzesiwo to vovo.

Amekae ate ŋu axɔ CAH? Aleke gbegbe wòbɔe?

Nɔnɔme sia si woyɔna be ``(CAH)`` ateŋu adze ame sia ame me. Ema fia be ate ŋu adze vidzĩwo, ɖeviwo, ame tsitsiwo, ame sia ame dzi.

Le dukɔwo abe Amerika kple Europa ene me la, CAH si wonya nyuie la dzea ame abe ɖeka le akpe ewo va ɖo akpe wuiatɔ̃ ɖesiaɖe me. CAH si menye blematɔwo o mebɔ vie o, eye wòdzea ame abe ɖeka le alafa ɖeka va ɖo alafa eve ɖesiaɖe me dzi. Wokpɔa ƒomevi evea siaa le xexeame katã.

Nukae nye `(CAH)` ƒe dzesiwo?

CAH ƒe dzesiwo ate ŋu ato vovo le eƒe ƒomevi kple ŋutsu alo nyɔnu nyenye nu. Le kpɔɖeŋu me, wodzia vidzĩ aɖewo kple dzesiwo, evɔ bubuwo ya ƒe dzesiwo dzena ne wole tsitsim.

Dzesiwo le Classic CAH ŋu

Le CAH si wonya nyuie me la, androgen ƒe agbɔsɔsɔ sɔ gbɔ ŋutɔ. Esia ate ŋu ahe dzesi siwo do ƒome kple gbɔdɔdɔ ƒe lãmetsiwo vɛ. CAH si gblẽa dze kple esi naa virilizing bɔbɔe siaa ate ŋu ahe dzesiwo abe:

• Vidzinu siwo me mekɔ o le vidzĩ nyɔnuwo me: Esia fia be vidzĩa ƒe vidzinuwo ƒe gotagome ate ŋu adze abe vidzĩ ŋutsu tɔ ene. Gake nyɔnu ƒe vidzinu ememetɔwo (abe azigolo kple vidzidɔ ene) sɔ.
• Vidzĩ ŋutsuwo ƒe vidzinu ƒe lolome.
• Dzesi siwo fia be sɔhɛmenɔɣi kaba: Le kpɔɖeŋu me, gbe ƒe tɔtrɔ, aklãdɔ sesẽ, kple taɖa ƒe tsitsi kaba le akɔta, ame ŋutɔ ƒe teƒewo, kple mo.
• Ŋutsunyenye ƒe nɔnɔmewo ƒe dodo le nyɔnuviwo me: lãmekawo ƒe tsitsi, gbe ƒe gogloƒe, kple mo ƒe fu siwo womedi o ƒe tsitsi.
• Tsitsi kabakaba ŋutɔ (le gɔmedzedzea me).
• Dzinukpɔkpɔ si medzɔna edziedzi o.
• Vidzidɔ me dɔdzẽ siwo me dɔlékui aɖeke mele o.
• Vidzidzimakpɔmakpɔ.

Tsɔ kpe ɖe eŋu la, vevietɔ le amesiwo ŋu CAH si gblẽa dze le gome la , lãmetsiŋusẽ ƒe masɔmasɔ ate ŋu ahe adrenal ƒe dzesi sesẽwo vɛ. Afɔku le esiawo me ŋutɔ eye wohiã be woawɔ atike na wo enumake :

• Tsikuɖiɖi.
• Sodium ƒe agbɔsɔsɔ si dzi ɖe kpɔtɔ le ʋu me (Hyponatremia).
• Ʋu ƒe sisi le lãme na ame (Hypotension).
• Dzi ƒe tsotso si mesɔ o (Arrhythmia).
• Sukli ƒe agbɔsɔsɔ si bɔbɔ ɖe ʋu me (Hypoglycemia).
• Acid ƒe dzidziɖedzi le ʋu me (Metabolic acidosis).
• Ʋuʋudedi.
• Dɔmetɔtrɔ.
• Kpekpeme dzi ɖeɖe kpɔtɔ.
• Dzidziƒoame ƒe nɔnɔme `(Shock)`.

Vevietɔ: CAH si gblẽa dze le ame ŋu ƒe dzesi siawo, vevietɔ le vidzĩ yeye gome, nye nusi dzɔna kpata. Ele be nàkpɔ ɖɔkta enumake.

CAH si menye klassik o ƒe dzesiwo

CAH si menye klassik o nye nɔnɔme si me kɔ wu. Ðewohĩ mànya gɔ̃ hã be ele ye si o. Zi geɖe la, dzesiawo mesẽna o, gake ate ŋu anye:

• Tsitsi kabakaba ŋutɔ (le gɔmedzedzea me).
• Aklãdɔ.
• Ƒewuiwo ƒe tsitsi kaba.
• Taɖa ƒe tsitsi le nyɔnuwo ƒe mo alo ŋutilã si womedi o.
• Dzinukpɔkpɔ si medzɔna edziedzi o.
• Vidzidzimakpɔmakpɔ.
• Ŋutsu ƒe kpɔɖeŋu taɖa (kaba).
• Ŋutsuwo ƒe vidzinu lolo gake woƒe vidzinuwo le sue.

Nukae hea `(CAH)` vɛ?

Zi geɖe la, nusi koŋ gbɔ CAH tsonae nye enzyme 21-hydroxylase ƒe anyimanɔmanɔ alo eƒe anyimanɔmanɔ. Domenyiŋusẽfianu ƒe tɔtrɔ kpɔa ŋusẽ ɖe enzyme sia ƒe agbɔsɔsɔ dzi. Ƒã hafi enzyme 11-hydroxylase ƒe anyimanɔmanɔ hã ate ŋu ahe CAH vɛ.

CAH nye autosomal recessive dɔléle . Ènya nusi ema fiaa? Míexɔa domenyiŋusẽfianu ɖesiaɖe ƒe kɔpi eve - ɖeka tso mía dada gbɔ eye ɖeka tso mía fofo gbɔ. Ne ɖevi nyi domenyiŋusẽfianu si nana enzyme sia ƒe anyimanɔmanɔ ƒe kɔpi tso dzila eveawo siaa gbɔ ko hafi CAH dzɔna. Ne domenyiŋusẽfianu ɖeka si trɔ le ame aɖe si la, ate ŋu anye dɔlélea tsɔla gake womaɖe dzesi aɖeke afia o.

Aleke ɖɔktawo wɔa dea dzesi (dea dzesi) nɔnɔme si nye `(CAH)`?

Klasik CAH

Hafi viwòa natso kɔdzi ayi aƒeme la, ɖɔktawo alé ŋku ɖe vidzĩa ŋu be ``(CAH)'' hã. Esia sɔ.Dodokpɔ si wowɔna tsɔ doa vidzĩ yeyewo kpɔna ƒe akpa aɖe, eye wowɔa esia to ʋu sue aɖe ɖeɖe tso vidzĩa ƒe afɔkpodzi me. Esia ate ŋu aɖee afia nenye be CAH si wonya nyuie le asiwò.

Ne èfɔ fu eye vi le asiwò xoxo si ŋu CAH le la, àte ŋu awɔ domenyiŋusẽfianu dodokpɔ do ŋgɔ na vidzidzi le fufɔɣi . Wò ɖɔkta ate ŋu awɔ amniocentesis (si nye tsi si le wò vidzidɔ me dodokpɔ) alo chorionic villus sampling (si nye vidzidɔa ƒe akpa aɖe dodokpɔ) be yeakpɔe ɖa be CAH le ŋuwò hã.

CAH si menye klassik o

Zi geɖe la, wokpɔa CAH si menye blematɔwo o ne wò alo viwòa dze dzesiwo ɖeɖefia gɔme vɔ. Ɣeaɖewoɣi la, ate ŋu adzɔ le tsitsime hã. Wò ɖɔkta awɔ nusiwo gbɔna atsɔ anya dɔlélea:

• Ŋutilãmedodokpɔ aɖe.
• Ʋudodokpɔwo.
• Aɖuɖɔtoe dodokpɔ.
• Domenyiŋusẽfianu dodokpɔ.

Aleke wowɔa atike na CAH?

CAH dada nɔ te ɖe dzesiawo ƒomevi kple woƒe sesẽ dzi. Atike aɖeke meli na CAH o. Gake atikewo kple atikewɔmɔnu bubuwo ate ŋu akpe ɖe ame ŋu wòaɖu dzesiawo dzi eye wòanɔ agbe le lãmesẽ me.

CAH ƒe atikewɔwɔ si wonya nyuie

Wò ɖɔkta alé ŋku ɖe wò nɔnɔmea ŋu edziedzi. Woado ʋu kpɔ edziedzi atsɔ akpɔ wò lãmetsiŋusẽ ƒe agbɔsɔsɔ. Taɖodzinu vevitɔ si le atikewɔwɔ ŋue nye be woakpɔ egbɔ be ame tsi nyuie eye wòtsi le gbɔdɔdɔ me.

Wò ɖɔkta ate ŋu aŋlɔ atikewo abe esiawo ene na wò be nàtsɔ ada wò dzesiwo:

• Dzetikewo: Vidzĩ siwo wodzi yeyee ate ŋu ahiã sodium chloride kpeɖeŋutɔ (vevietɔ notsi siwo gblẽa dze).
• Glucocorticoids: Esiawo wɔa dɔ to lãmetsi si nye cortisol, si ŋutilãa mewɔna o la ɖɔliɖɔli me. Ðewohĩ ahiã be nàdzi atike sia ƒe agbɔsɔsɔ ɖe edzi ne èle dɔ lém, lé blanui, alo nèle nuteɖeamedzi me.
• Mineralocorticoids: Wozãa esiawo tsɔ ɖɔlia lãmetsi si nye aldosterone, si ŋutilãa mewɔna o.

Ne Classic CAH le ŋuwò la, ele be nàno atike siawo gbesiagbe le wò agbemeŋkekewo katã me. Ne èdzudzɔ atikeawo nono la, wò dzesiwo agatrɔ ava.

Atikewɔwɔ bubue nye amekoko na vidzĩ nyɔnu siwo ƒe vidzinuwo me mekɔ o. Woate ŋu awɔ dɔ sia le ɣleti eve va ɖo ade le vidzidzi megbe be gotagome vidzinuwo ƒe dzedzeme kple dɔwɔwɔ nagadze. Le go aɖewo me la, woate ŋu ahe amekokoa ɖe megbe ƒe geɖe. Ele be nàdzro esia me kple wò ɖɔkta nyuie hafi atso nya me.

CAH ƒe atikewɔwɔ si menye blematɔwo o

Ne dzesi aɖeke mele ŋuwò o la, ɖewohĩ mahiã be woawɔ atike na wò o. Ne dzesi siwo mesẽ o le ŋuwò la, woate ŋu ana glucocorticoids ƒe agbɔsɔsɔ sue aɖe wò. Zi geɖe la, mehiã be woawɔ atike na amesiawo le woƒe agbemeŋkekewo katã me o.

Ne CAH le ŋuwò alo viwòa ŋu la, ele vevie be nàdi susumedɔlélewo gbɔ kpɔkpɔ. Esia le alea elabena nya kple kuxi gbogbo siwo dona tso nɔnɔmea me (abe ŋutilã me tɔtrɔ, vidzidzi, kple bubuawo ene) ate ŋu akpɔ ŋusẽ ɖe susu dzi. Eyata susu ƒe lãmesẽnyawo gbɔ kpɔkpɔ ƒe kpekpeɖeŋu nye CAH dɔdamɔnu ƒe akpa vevi aɖe. Ate ŋu ana agbenɔnɔ nanyo ɖe edzi.

Nukawoe nye kuxi siwo ate ŋu ado tso CAH me?

Le CAH si wonya nyuie me, vevietɔ esi gblẽa dze dome la, tsi kple dze si sɔ gbɔ wu la buna le aɖuɖɔ me. Esia ate ŋu ahe kuxi sesẽwo abe elektrikŋusẽ (e.g. potassium) ƒe masɔmasɔ ene vɛ . Ne womewɔ atike na wo o la, dadasɔmakpɔmakpɔ siawo ate ŋu ana:

• Dzi ƒe tsotso si mesɔ o (Arrhythmia).
• Dzi ƒe dɔmawɔmawɔ nyuie.
• Ku gɔ̃ hã ate ŋu adzɔ.

CAH si menye klassik o si womewɔ atike na o hã ate ŋu ahe kuxiwo vɛ. Le ŋutsuwo gome la:

• Ƒewuiwo ƒe gɔmedzedze.
• Kɔkɔme ƒe kpuie (kɔkɔme dzi ɖe kpɔtɔ).

Le nyɔnuwo gome la:

• Ŋutsu ƒe ŋutilã ƒe nɔnɔme siwo nɔa anyi ɖaa.
• Dzinukpɔkpɔ si mebɔ o.
• Vidzidzimakpɔmakpɔ.

Afɔku hã li be kuxi aɖewo (abe dɔlékuiwo xɔxɔ, ʋudodo, kple abi) ate ŋu ado tso amekoko siwo wowɔna le vidzinu siwo me mekɔ o me.

Ðe woate ŋu axe mɔ ɖe `(CAH)` nua?

Esi wònye be CAH nye domenyiŋusẽfianu ƒe nɔnɔme ta la, womate ŋu axe mɔ ɖe enu o. Ne CAH le wò ƒomea me, alo vi si ŋu CAH le le asiwò xoxo la, bu domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo kple/alo domenyiŋusẽfianu dodokpɔ ŋu . Esia akpe ɖe ŋuwò nàse afɔku si le viwòwo ƒe domenyinyi ƒe nɔnɔmea me gɔme.

Aleke nɔnɔmea le le atikewɔwɔ na `(CAH)` megbe?

Ne wokpɔe kaba eye wodae nyuie la, amesiwo ŋu CAH le ate ŋu anɔ agbe si me lãmesẽ le, si me viɖe le. Ahiã be amesiwo ŋu Classic CAH le nano atike gbesiagbe le woƒe agbemeŋkekewo katã me. Dzesiawo ate ŋu atrɔ ava ne wodzudzɔ atikewo zazã.

Ame akpa gãtɔ siwo ŋu CAH le la le lãmesẽ me, gake woate ŋu anɔ kpuie wu ame tsitsi bubuwo. Le go aɖewo me la, CAH ate ŋu akpɔ ŋusẽ ɖe vidzidzi dzi. Ne wodzi wò kple vidzinu siwo me mekɔ o la, ke ɖewohĩ ahiã be nàkpe ɖe ŋuwò le susu me. Ne kuxi aɖewo do mo ɖa le atikewɔwɔ vɔ megbe la, mègavɔ̃ be yeaƒo nu kple wò ɖɔkta o.

Aleke woawɔ aɖe lolo dzi akpɔtɔ kple `(CAH)`?

Atike aɖewo siwo wozãna tsɔ daa CAH (vevietɔ glucocorticoids) ate ŋu ana ame nalolo. Ðo dze kple wò ɖɔkta tso wò kpekpeme ŋu. Ate ŋu anya nenye be atike alo atikewɔwɔ ƒe nɔnɔme bubu aɖe gbɔe wòloloa tso. Ðewohĩ ahiã be woatrɔ asi le wò atike ƒe agbɔsɔsɔme ŋu. Ate ŋu akpe ɖe ŋuwò hã be nàwɔ ɖoɖo ɖe nuɖuɖu kple kamedede ŋu be wòakpe ɖe ŋuwò nàlé wò lolo nyuie me ɖe asi.

Ðe `(CAH)` nye nuwɔametɔa?

Habɔbɔ aɖewo ate ŋu abu adrenal gland dɔlélewo be wonye nuwɔametɔnyenye. Nenye be CAH dze anye nuwɔametɔ la, kuxi siwo dona tso dɔléle ma koŋ me dzie wokpɔna.

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

Enye nusi sɔ be nàse le ɖokuiwò me be yegbɔdzɔ ne èse be domenyiŋusẽfianu ƒe dɔléle aɖe le viwò ŋu. Gake ɖevi siwo wodzi kple Congenital Adrenal Hyperplasia (CAH) ƒe etsɔme nyo wu ne wokpɔ dɔlélea kaba eye wodae nyuie.

Ðo ŋku nu siawo dzi:

• (CAH) nye domenyiŋusẽfianu ƒe nɔnɔme si gblẽa nu le lãmetsiŋusẽ ƒe wɔwɔme le adrenal glands me ŋu.
• Classic CAH ye nye esi nu sẽ wu eye woate ŋu ade dzesii to vidzĩ yeyewo dodokpɔ me.
• Dɔlélea didi kaba kple atikewɔwɔ le eƒe agbemeŋkekewo katã me (na CAH si wonya nyuie) le vevie ŋutɔ.
• Atikewɔwɔ ate ŋu aɖu dzesiawo dzi eye wòana woatsi ahatsi nyuie.
• Ame aɖewo ate ŋu ahiã susumedɔléle ŋuti kpekpeɖeŋu kple aɖaŋuɖoɖo.
• Ne èle ɖoɖo wɔm be yeafɔ fu eye CAH le wò ƒomea me la, ƒo nu kple wò ɖɔkta tso domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo ŋu.

Mègatsi dzi o, menye wò ɖeka koe o. Ne nya bubu aɖewo gale asiwò ku ɖe `(CAH)` ŋu la, bia wò ɖɔkta. Woate ŋu akpe ɖe ŋuwò.

` Congenital Adrenal Hyperplasia, CAH, Adrenal glands, Cortisol, Aldosterone, Androgen, Lãmetsiŋusẽ ƒe masɔmasɔ, Domenyiŋusẽfianu ƒe dɔléle, Vidzĩ yeyewo dodokpɔ, Lãmetsiŋusẽ, Domenyiŋusẽ ƒe dɔlélewo, Adrenal glands