Ðe wònye lãmetsiŋusẽ ƒe kuxia? Mina míasrɔ̃ nu tso Congenital Adrenal Hyperplasia (CAH) ŋu le nya bɔbɔewo me

Ðe nède dzesi tɔtrɔ alo dzimaɖitsitsi aɖewo le viwònyɔnuvi si wodzi yeyee ƒe vidzinuwo ƒe dzedzeme ŋua? Alo ɖe viwòvi suea le sɔhɛmenɔɣi ƒe dzesiwo ɖem fia hafi eƒe vidzidzi ƒe ɣeyiɣia ɖoa? Ðewohĩ viwòa le ʋuʋum, eƒe fu le ʋuʋum, alo kuviawɔwɔ dzro aɖe ko? Egbea míele nu ƒom tso domenyiŋusẽfianu ƒe nɔnɔme aɖe si ate ŋu ahe nusiawo vɛ ŋu. Míeyɔa esia be Congenital Adrenal Hyperplasia, alo CAH kpuie. Mègatsi dzi o, ŋkɔa aɖi nya sesẽ vie, gake mina míana wòanɔ bɔbɔe.

Nukae CAH fia ko?

Enyo, mina míalé ŋku ɖe nusi CAH nye ŋu gbã. Lãmenugbagbevi eve le mí katã si, abe kposɔ suewo ene, le míaƒe ayikuwo tame. Esiawoe míeyɔna be adrenal glands. Lãmetsi sue eve siawo wɔa lãmetsiŋusẽ vevi geɖe ŋutɔ siwo hiã vevie na míaƒe ŋutilã ƒe dɔwɔwɔ.

• Cortisol: Esiae nye nuteɖeamedzi ƒe lãmetsi vevitɔ le míaƒe ŋutilã me. Edzraa ŋutilãa ɖo be wòanɔ te ɖe dɔléle, afɔku, kple nuteɖeamedzi nu. Ekpena ɖe ame ŋu hã be ʋu ƒe sisi, ŋusẽ ƒe agbɔsɔsɔ, kple sukli ƒe agbɔsɔsɔ le ʋu me naɖɔ ɖo.
• Aldosterone: Lãmetsi sia kpena ɖe mía ŋu be dze (sodium) kple tsi nada asɔ nyuie le míaƒe ŋutilã me, si wɔnɛ be míeɖua ʋu ƒe sisi kple ʋu ƒe agbɔsɔsɔ dzi.
• Androgens: Esiawoe nye ŋutsu ƒe gbɔdɔdɔ ƒe lãmetsiwo. Testosterone nye lãmetsiŋusẽ mawo dometɔ ɖeka. Lãmetsiŋusẽ siawo le vevie ŋutɔ na sɔhɛmenɔɣi ƒe gɔmedzedze, tsitsi nyuie kple tsitsi.

Fifia, nusi dzɔna ɖe amesi ŋu CAH le dzi enye be enzyme aɖe koŋ si hiã be woatsɔ awɔ lãmetsi siawo bu alo ɖe edzi le ŋutilãa me. Abe alesi ne nu ʋeʋĩ aɖe bu le nuɖuɖu me la, nuɖuɖua ƒe vivi trɔna ene la, ne enzyme sia bu la, adrenal glands mete ŋu wɔa lãmetsi siawo nyuie o.

Eyata nukae dzɔna?

• Ðewohĩ womele lãmetsi si nye cortisol wɔm abe alesi wòhiã ene o.
• Ðewohĩ womele lãmetsi si nye aldosterone wɔm abe alesi wòhiã ene o.
• Ke boŋ ŋutsu ƒe lãmetsi siwo woyɔna be androgens dzea wɔwɔ gɔme wògbɔa eme .

Lãmetsiŋusẽ ƒe masɔmasɔ siae nye kuxi siwo katã doa mo ɖa le CAH me la ƒe ke.

Ðe CAH ƒomevi vevi aɖewo lia?

Ẽ, CAH ƒomevi vevi evee li. Dɔnɔ siwo ŋu wokpɔ dɔlélea le ƒe 95% dzena le ƒomevi eve siawo me.

1. Classic CAH: Esiae nye CAH ƒe ƒomevi si nu sẽ wu eye wòsesẽ wu. Zi geɖe la, wokpɔnɛ le edziɣi. Ne womewɔ atike nɛ nyuie o la, ate ŋu ana ame natsi dzodzodzoe, atsi alɔ̃ me, eye wòaku gɔ̃ hã. Eyata ele vevie ŋutɔ be woakpɔ dɔléle sia ahadae kaba.Wole ƒomevi sue eve siwo le ƒomevi sia me.

• CAH si gblẽa dze: Esiae nye CAH ƒomevi si nu sẽ wu. Le go sia me la, wowɔa lãmetsi si nye aldosterone le agbɔsɔsɔ sue aɖe ko me. Esia wɔnɛ be ŋutilãa mete ŋu trɔa asi le eƒe dze (sodium) ƒe agbɔsɔsɔ ŋu o. Esia wɔnɛ be dze si sɔ gbɔ la dona le aɖuɖɔ me. Le ɣeyiɣi ma ke me la, lãmetsi si nye cortisol hã dzi ɖena kpɔtɔna, eye lãmetsi si nye androgen hã dona wògbɔa eme.
• Simple-virilizing CAH (non- salt-excreting, common type): Esia nye nɔnɔme si mesẽ vie o. Le afisia la, aldosterone lãmetsiŋusẽ ƒe anyimanɔmanɔ mesẽna nenema gbegbe o. Eyata dzesi siwo ate ŋu ade ame ƒe agbe afɔku me medzena o. Gake cortisol lãmetsi la gakpɔtɔ le sue eye androgen lãmetsi hã sɔ gbɔ. Esia hea kuxi 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, wokpɔnɛ le ɖevimenɔɣi, ƒewuiwo, alo tsitsime. Ðewohĩ dzesi aɖeke manɔ ame aɖewo ŋu kura o. Le afisia hã la, dzesi aɖewo siwo do ƒome kple gbɔdɔdɔ ƒe tsitsi ate ŋu ado mo ɖa le androgen lãmetsiwo ƒe wɔwɔ fũ ta.

Nukawoe nye CAH ƒe dzesi siwo ate ŋu anɔ ame ŋu?

CAH ƒe dzesiwo ate ŋu ato vovo le eƒe ƒomevi kple ŋutsu alo nyɔnu nyenye nu. Mina míalé ŋku ɖe kplɔ̃ si le ete ŋu be míase esia gɔme nyuie.

Nukatae CAH va dona? Nuka gbɔe wòtso?

Kpuie ko la, CAH nye domenyiŋusẽfianu ƒe dɔléle . Esia fia be enye nusi ƒe dome míenyi tso mía dzilawo gbɔ. Menye dɔléle si xɔa ame me o.

Le nɔnɔme ɖesiaɖe si le míaƒe ŋutilã me gome la, domenyiŋusẽfianu eve li, ɖeka tso mía dada gbɔ eye ɖeka tso mía fofo gbɔ. Hafi CAH nadzɔ la, ele be ɖevi nanyi domenyiŋusẽfianu si gblẽ la ƒe dome tso wo dada kple wo fofo siaa gbɔ . Woyɔa nɔnɔme sia be autosomal recessive disorder.

Zi geɖe la, enzyme 21-hydroxylase ƒe anyimanɔmanɔ gbɔe CAH tsona. Domenyiŋusẽfianu si ŋlɔa enzyme sia ƒe tɔtrɔ aɖe gbɔe wòtsona.

Aleke nàwɔ anya ne CAH le ŋuwò?

Classic CAH (ƒomevi sesẽ) .

Esiae nye nya nyuitɔ kekeake. Fifia kɔdzi geɖe siwo le Sri Lanka tsɔa Classic CAH dodokpɔa dea dodokpɔ siwo wowɔna le vidzidzi me la dome. Wowɔa esia le vidzĩa dzidzi megbe ŋkeke ʋɛ aɖewo, eye wozãa ʋu sue aɖe si woɖe tso vidzĩa ƒe afɔkpodzi . Dodokpɔ sia (vidzidzi yeyewo dodokpɔ) ate ŋu ade dzesii kaba nenye be Classic CAH le vidzĩa ŋu. Esia fia be woate ŋu adze atikewɔwɔ gɔme hafi dzesiawo nadze, si ana vidzĩa ƒe agbe natsi.

Ne ƒome si si vi le si ŋu CAH le xoxo le mɔ kpɔm na vi bubu la, anya wɔ be woado vidzĩa kpɔ be nɔnɔmea le eŋu hã le fufɔɣi. Dodokpɔ tɔxɛwo li na esia, abe amniocentesis ene. Ðo dze kple wò ɖɔkta tso esia ŋu.

CAH si menye klassik o (ƒomevi fafɛ) .

Nɔnɔme fafɛ sia ate ŋu atsi megbe vie be woade dzesii elabena dzesiawo dzena emegbe. Ne wò alo viwòa dze dzesi siwo míeyɔ ɖe etame la kpɔkpɔ gɔme la, ele be nàyi ɖɔkta gbɔ. Ðɔktaa awɔe be:

• Wowɔa ŋutilãmedɔdada.
• Ʋudodokpɔ kple aɖuɖɔ dodokpɔwo léa ŋku ɖe lãmetsiŋusẽ ƒe agbɔsɔsɔ ŋu.
• Ɣeaɖewoɣi la, domenyiŋusẽfianu dodokpɔ ate ŋu aɖo kpe dɔlélea dzi.

Nukawoe nye atike siwo wozãna na esia?

Womate ŋu ada CAH keŋkeŋ o. Gake ne wowɔ atike nɛ nyuie la, woate ŋu aɖu edzi nyuie eye àte ŋu anɔ agbe si sɔ keŋkeŋ, si me lãmesẽ le . Atikewɔwɔ nɔ te ɖe dɔlélea ƒomevi kple dzesiawo ƒe sesẽ dzi.

Atikewɔwɔ na Classic CAH

Ele be ame siawo nano atike gbesiagbe le woƒe agbemeŋkekewo katã me . Taɖodzinu vevitɔ si le atikewɔwɔ ŋue nye be woada asɔ le lãmetsiŋusẽ ƒe agbɔsɔsɔ me to lãmetsi siwo mehiã le ŋutilãa me o nana me. Esia kpena ɖe ame ŋu wòtsina nyuie eye wòtsina le gbɔdɔdɔ me.

• Glucocorticoids: Atike siawo xɔna ɖe cortisol lãmetsi si ŋutilãa mewɔna o la teƒe. Ðewohĩ ahiã be woadzi atike siawo ƒe agbɔsɔsɔ ɖe edzi ne dɔléle aɖe abe dzoxɔxɔ, dɔlékui aɖe le ɖevia ŋu, alo le nɔnɔme siwo me nuteɖeamedzi le abe amekoko ene me.
• Mineralocorticoids: Wona esiawo be woatsɔ axɔ ɖe lãmetsi si nye aldosterone si womewɔna le ŋutilãa me o la teƒe.
• Dzetikewo: Wonaa sodium chloride vidzĩ yeye siwo ŋu dze gbegblẽ ƒe dɔlélea le be wòaxɔ ɖe dze si bu le ŋutilã me teƒe.

Atikewɔwɔ bubue nye amekoko be woaɖɔ nyɔnuviwo ƒe vidzinu siwo me mekɔ o ɖo. Zi geɖe la, woate ŋu awɔ esia le ɣleti 2 va ɖo 6 le vidzĩa dzidzi megbe.

Atikewɔwɔ na CAH si menye klassik o

Ðewohĩ mahiã be woawɔ atike aɖeke na amesiwo ŋu dɔléle sia si mesẽ o le ne dzesi aɖeke mele wo ŋu o. Ne dzesi siwo mesẽ o le wo ŋu la, woate ŋu ana glucocorticoids ƒe agbɔsɔsɔ sue aɖe wo. Zi geɖe la, mehiã be woawɔ atike na amesiawo le woƒe agbemeŋkekewo katã me o.

Le nɔnɔme siawo dometɔ ɖesiaɖe me la, susu ƒe lãmesẽ ŋuti aɖaŋuɖoɖo didi be woaƒo nu tso nuteɖeamedzi kple kuxi siwo me tom ɖevia kple dzilawo ate ŋu anɔ ŋu nye atikewɔwɔ ƒe akpa vevi aɖe ŋutɔ.

Kuxi kawoe ate ŋu ado mo ɖa ne womewɔ atike nɛ o?

Ne womewɔ atike nɛ o, vevietɔ Classic CAH ƒomevi si gblẽa dze la, ate ŋu anye afɔku gã aɖe. Dze kple tsi ƒe gege le ŋutilãa me fũ ate ŋu ahe kuxi siwo ate ŋu ade ame ƒe agbe afɔku me gɔ̃ hã vɛ. Ne ɖevia le ʋuʋum fũ, eƒe lãme le ƒuƒlu, alo mele no nom o la, ele be woakplɔ wo ayi kɔdzi ƒe dɔwɔƒe si kpɔa dɔnɔwo gbɔ kpata (ETU) enumake.

Nukae ate ŋu adzɔ ne womewɔ atike nɛ o:

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

CAH si menye blematɔwo o ate ŋu ahe kuxiwo vɛ ne womewɔ atike nɛ o gɔ̃ hã. Le kpɔɖeŋu me, vidzidzimakpɔmakpɔ, dzinukpɔkpɔ si mebɔ o, kple ŋutsu ƒe nɔnɔme siwo nɔa anyi ɖaa le nyɔnuwo me.