Ukuba wena okanye umntu kusapho lwakho unesifo esibizwa ngokuba yiCongenital Adrenal Hyperplasia (CAH), oku kuya kuba ziindaba ezibalulekileyo kuwe. Emva kweminyaka engama-70, unyango olutsha olujoliswe kwesi sifo ngoku luvunyiwe. Eli lithemba elikhulu kubantu abaphila ne-CAH. Ngoko makhe sijonge ukuba yintoni le yeza litsha, indlela elisebenza ngayo, kunye neenzuzo zalo.
Okokuqala, masiqonde, yintoni i-CAH?
Ngamafutshane, i-CAH sisifo semfuza esichaphazela amadlala ethu e-adrenal. La madlala afumaneka ngaphezulu kwezintso zethu. Avelisa iihomoni ezininzi ezibalulekileyo emzimbeni wethu.
Cinga nge-adrenal gland njengomzi-mveliso. Eyona mveliso iphambili yale fektri yi-hormone ebizwa ngokuba yi-cortisol. Le yi-hormone ebaluleke kakhulu enceda imizimba yethu ukuba ikwazi ukumelana noxinzelelo, ukugula kunye nengozi.
Xa amanqanaba e-cortisol kumntu ophilileyo ehla, ingqondo (njengomphathi wefektri) ithumela isignali (i-order) ebizwa ngokuba yi-ACTH kwi-adrenal gland ukuze "yenze i-cortisol." Kodwa kumntu one-CAH, i-adrenal gland ayinayo i-enzyme ebalulekileyo, okanye 'umsebenzi', efunekayo ukwenza i-cortisol. Ngoko ke nokuba ingqondo ithumela i-ACTH engakanani na, ifektri ayinakwenza i-cortisol.
Oku kuphakamisa imibuzo emibini:
1. Umzimba awuvelisi i-cortisol efunekayo .
2. Njengoko imiqondiso ye-ACTH esuka ebuchotsheni iqhubeka nokuhamba, olunye uhlobo lwehomoni oluveliswa yi-adrenal gland , olubizwa ngokuba yi-androgens, lwenziwa ngokugqithisileyo .
Ezi androgens (umz. i-testosterone) zii-hormones zamadoda. Amadoda nabafazi bayayidinga eminye yazo, kodwa kwi-CAH, iba phezulu kakhulu. Oku kunokubangela ukufikisa kwangethuba, ukungazali, kunye nezinye iingxaki zokukhula komntwana .
Kangangamashumi eminyaka, unyango oluphambili lwale nto ibikukunika ii-steroids (i-glucocorticoids) ezisebenza njenge-cortisol ngaphandle. Oku akuthathi indawo ye-cortisol emzimbeni kuphela, kodwa kulawula nomqondiso we-ACTH ovela engqondweni, kunciphisa ukuveliswa kwee-androgens. Nangona kunjalo, ingxaki kukuba oku kufuna ukuthatha iidosi eziphezulu zee-steroids kunesiqhelo ixesha elide. Oku kunokubangela iziphumo ezininzi ebezingalindelekanga, ezinje ngokutyeba, ukubhitya kwamathambo, kunye neengxaki zokulala .
Ulifumene njani eli yeza litsha?
Izazinzulu zazibuza ukuba kukho esinye isisombululo sale ngxaki ye-steroid. Endaweni yokunika ii-steroids ezininzi ngaphandle, kuthekani ukuba sifumene indlela yokunciphisa ngokuthe ngqo isignali ye-ACTH evela ebuchotsheni?
Kulapho bafumana khona ithagethi entsha. Yayiyi-receptor engqondweni ebizwa ngokuba yi-CRF1. Xa amanqanaba e-cortisol ehla, isignali ye-ACTH ivuselelwa yi-CRF1. Kwi-CAH, le nkqubo iyaphazamiseka.
Ngoko ke izazinzulu zacinga ukuba, ukuba singayithintela le CRF1, singayinciphisa imveliso ye-ACTH, akunjalo? Ukuba oko kuyenzeka, imveliso ye-androgens nayo iya kulawulwa, kwaye umthamo wee-steroids ekufuneka isigulane sizithathe nawo uya kuncitshiswa.
Le ngcinga intsha yiyo ekhokelele ekuphuhlisweni kweyeza elitsha elibizwa ngokuba yiCrinecerfont. Eli liyeza elenzelwe ukujongana nengxaki esisiseko ye-CAH ngokuthintela i-CRF1.
Uvavanyo olwenziwe ngaphambi kokuba abantu banikwe amayeza
Iyeza elitsha alinakunikwa abantu kwangoko nje ukuba lifunyenwe. Kufuneka livavanywe uthotho lwezilingo ukuqinisekisa ukuba likhuselekile kwaye liyasebenza na. Iyeza leCrinecerfont lidlule kuzo zonke ezi nyathelo.
1. Uvavanyo lwelebhu kunye nezilwanyana: Inyathelo lokuqala kukuvavanya iyeza kwiiseli kunye nezilwanyana ezikwilebhu. Oku kukufumanisa ukuba iyeza liyingozi okanye liya kuwonakalisa amalungu omzimba. Khawucinge nje, malunga neyeza elinye kuphela kwi-10,000 elitsha elidlula yonke le miqobo kwaye livunyiwe.
2. Uvavanyo lwezonyango: Emva kokuba uvavanyo lwezilwanyana luphumelele, uvavanyo lwabantu lwenziwa ngamanqanaba aliqela.
Zinjani iziphumo zovavanyo lweCrinecerfont?
Izilingo ezenziwe kweli yeza zivelise iziphumo ezilungileyo kakhulu. Ingakumbi izilingo zeSigaba sesiBini kunye neSigaba sesiThathu zibaluleke kakhulu.
Isigaba sesiBini - Iziphumo zabantwana abancinci
Apha, iqela elincinci labantwana abancinci (abaneminyaka eli-14-17) abane-CAH banikwa eli yeza kangangeentsuku ezili-14 kwaye utshintsho kumanqanaba abo eehomoni lwabonwa. Iziphumo zazimangalisa.
- I-ACTH (uphawu lobuchopho) yehle ngama-57% .
- I-17-OHP (isalathisi semveliso ye-androgen) yehle ngama-69% .
- I-Androstenedione (uhlobo lwe-androgen) yehle ngama-58% .
Isigaba sesi-3 - Iziphumo zamaqela amakhulu
Bekhuthazwe zezi ziphumo, izazinzulu zenze uvavanyo olukhulu olubini zisebenzisa abantu abadala nabantwana, apho abanye banikwa iyeza iCrinecerfont kwaye abanye banikwa i-placebo eyayifana neyeza kodwa ingenasiphumo.
| Iqela | Isiphumo esiphambili | Inkcazo |
|---|---|---|
| Abantu abadala (bethatha iCrinecerfont) | Ukunciphisa idosi ye-steroid | Ngokulawula amanqanaba eehomoni, kwakunokwenzeka ukunciphisa idosi yemihla ngemihla yee-steroids ngama-27% . |
| Abantu abadala (bathathe i-placebo) | Ukunciphisa idosi ye-steroid | Idosi ye-steroid yehliswe kuphela nge-10%. |
| Abantwana (bethatha iCrinecerfont) | Amanqanaba e-Androgen kunye nedosi ye-steroid | Emva kweeveki ezi-4, amanqanaba e-androgen ehla kakhulu. Ekupheleni kovavanyo, idosi ye-steroid yehliswa nge-18% . |
| Abantwana (bathathe i-placebo) | Amanqanaba e-Androgen kunye nedosi ye-steroid | Amanqanaba e-androgen anyukile. Idosi ye-steroid kwafuneka inyuswe malunga ne-6%. |
Ezi ziphumo zibonisa ngokucacileyo ukuba iCrinecerfont inceda ukulawula amanqanaba e-androgen, ngelixa ikwanciphisa umthamo wee-steroids ezinokuba yingozi kwizigulana kwixesha elide.
Likhuselekile kangakanani eli yeza?
Izifundo zibonise ukuba eli yeza alinazo iziphumo ebezingalindelekanga ezinzulu. Uninzi lweziphumo ebezingalindelekanga ezixeliweyo zincinci kwaye zezexeshana.
- Ukudinwa
- Intloko ebuhlungu
- Impumlo ebandayo okanye exineneyo
- Intlungu yemisipha okanye yesisu
- Intlungu yamalungu
Isilumkiso esikhulu kuphela esiza nale mayeza kukuba ukuba awuthathi idosi echanekileyo ye-steroids echazwe ngugqirha wakho , amanqanaba akho e-cortisol anokwehla ngokuyingozi, nto leyo ekhokelela kwimeko esongela ubomi ebizwa ngokuba yi-adrenal insufficiency. Nangona kunjalo, akukho mntu uthathe amayeza ngokufanelekileyo kolu phando oye wadibana nale meko . Ke ngoko, kubaluleke kakhulu ukulandela imiyalelo kagqirha wakho.
Ithemba elitsha lonyango lwe-CAH
Ngenxa yezi ziphumo ziphumeleleyo, i-FDA (iarhente ephambili evuma amayeza) eMelika inike imvume ekhethekileyo kweli yeza. I-Crinecerfont (igama lophawu iCrenessity) ayilonyango lwe-CAH. Nangona kunjalo, linyathelo elikhulu eliya phambili kunyango lwe-CAH.
Oogqirha ngoku banokukunika eli yeza ukongeza kunyango lwakho lwangoku lwe-steroid (unyango olongezelelweyo) . Oku kunokunceda ukunciphisa idosi yakho ye-steroid. Oku kuthetha ukuba unokufumana iziphumo ebezingalindelekanga ezimbalwa ezivela kwi-steroids, ulawule ngcono amanqanaba akho e-hormone, kwaye ube nobomi obungcono.
Umyalezo Wokuya Ekhaya
- I-CAH (Congenital Adrenal Hyperplasia) sisifo semfuza esichaphazela amadlala e-adrenal kwaye sibangela ukungalingani kwamahomoni.
- I-Crinecerfont (Crenessity) liyeza elitsha elivunyiweyo le-CAH, elinikwa ukongeza kunyango lwe-steroid.
- Oku kunciphisa amanqanaba aphezulu e-androgen hormone emzimbeni kwaye kunokunceda ukunciphisa idosi yemihla ngemihla yee-steroids.
- Ngokunciphisa idosi yee-steroids, kukho ithuba lokunciphisa iziphumo ebezingalindelekanga ezinxulumene nokusetyenziswa kwee-steroid ixesha elide.
- Nangona oku kungekuko ukunyanga esi sifo, linyathelo elikhulu eliya phambili ekuphuculeni umgangatho wobomi kwizigulane ze-CAH.
- Ukuba wena okanye umntwana wakho une-CAH, kubalulekile ukuthetha nogqirha wakho we-endocrinologist okanye ugqirha wosapho ukuze ubone ukuba olu nyango lutsha lukulungele na .
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