Uma wena noma othile emndenini wakho enesifo esibizwa ngokuthi i-Congenital Adrenal Hyperplasia (CAH), lokhu kuzoba izindaba ezibaluleke kakhulu kuwe. Ngemva kweminyaka engama-70, ukwelashwa okusha okuqondene ngqo nalesi sifo sekuvunyelwe manje. Lokhu kuyithemba elikhulu ngempela kubantu abaphila ne-CAH. Ngakho ake sibheke ukuthi lo muthi omusha uyini, usebenza kanjani, nokuthi yiziphi izinzuzo zawo.
Okokuqala, ake siqonde, iyini i-CAH?
Kalula nje, i-CAH isifo esithinta izakhi zofuzo esithinta izindlala zethu ze-adrenal. Lezi zindlala zitholakala ngaphezu kwezinso zethu. Zikhiqiza ama-hormone amaningana abalulekile emzimbeni wethu.
Cabanga ngendlala ye-adrenal njengefektri. Umkhiqizo oyinhloko wale fektri yi-hormone ebizwa ngokuthi i-cortisol. Lena yi-hormone ebaluleke kakhulu esiza imizimba yethu ukubhekana nokucindezeleka, ukugula kanye nengozi.
Uma amazinga e-cortisol kumuntu ophilile ehla, ubuchopho (njengomphathi wefektri) buthumela isignali (i-oda) ebizwa ngokuthi i-ACTH endlaleni ye-adrenal ukuze "yenze i-cortisol." Kodwa kumuntu one-CAH, indlala ye-adrenal ayinayo i-enzyme ebalulekile, noma 'isisebenzi', esidingekayo ukwenza i-cortisol. Ngakho-ke kungakhathaliseki ukuthi ubuchopho buthumela i-ACTH engakanani, ifektri ayikwazi ukwenza i-cortisol.
Lokhu kuphakamisa imibuzo emibili:
1. Umzimba awukhiqizi i-cortisol edingekayo .
2. Njengoba izimpawu ze-ACTH ezivela ebuchosheni ziqhubeka nokugeleza, olunye uhlobo lwe-hormone olukhiqizwa yi-adrenal gland , olubizwa ngokuthi ama-androgens, lukhiqizwa ngokweqile .
Lawa ma-androgen (isib. i-testosterone) angama-hormone wesilisa. Abesilisa nabesifazane badinga amanye awo, kodwa ku-CAH, aba phezulu kakhulu. Lokhu kungabangela ukuthomba kwasekuqaleni, ukungazali, kanye nezinye izinkinga ekukhuleni kwengane .
Sekungamashumi eminyaka, ukwelashwa okuyinhloko kwalokhu kube ukunikeza ama-steroid (ama-glucocorticoids) asebenza njenge-cortisol ngaphandle. Lokhu akugcini nje ngokuthatha indawo ye-cortisol umzimba ongenayo, kodwa futhi kulawula isignali ye-ACTH evela ebuchosheni, kunciphisa ukukhiqizwa kwama-androgens. Kodwa-ke, inkinga ukuthi lokhu kudinga ukuthatha imithamo ephezulu yama-steroids kunokujwayelekile isikhathi eside. Lokhu kungabangela imiphumela emibi eminingi, njengokwanda kwesisindo, ukuncipha kwamathambo, nezinkinga zokulala .
Uthole kanjani lo muthi omusha?
Ososayensi bazibuza ukuthi ngabe kukhona yini esinye isisombululo sale nkinga yama-steroid. Esikhundleni sokunikeza ama-steroid amaningi ngaphandle, kuthiwani uma sithola indlela yokunciphisa ngqo isignali ye-ACTH evela ebuchosheni?
Yilapho bathola khona ithagethi entsha. Kwakuyi-receptor ebuchosheni ebizwa ngokuthi i-CRF1. Lapho amazinga e-cortisol ehla, isignali ye-ACTH iqaliswa yi-CRF1. Ku-CAH, le nqubo iyaphazamiseka.
Ngakho ososayensi bacabanga ukuthi, uma sivimba le CRF1, singanciphisa ukukhiqizwa kwe-ACTH, akunjalo? Uma lokho kwenzeka, ukukhiqizwa kwama-androgens nakho kuzolawulwa, futhi umthamo wama-steroids isiguli okudingeka siwathathe nawo uzoncishiswa.
Lo mbono omusha yiwona owaholela ekuthuthukisweni komuthi omusha obizwa ngokuthi i-Crinecerfont. Lomuthi owenzelwe ukubhekana nenkinga eyisisekelo ye-CAH ngokuvimbela i-CRF1.
Ukuhlolwa okwenziwe ngaphambi kokunikeza abantu umuthi
Umuthi omusha awukwazi ukunikezwa abantu ngokushesha nje lapho utholakala. Kudingeka kwenziwe uchungechunge lokuhlolwa ukuqinisekisa ukuthi uphephile futhi usebenza kahle yini. Umuthi we-Crinecerfont udlule kuzo zonke lezi zinyathelo.
1. Ukuhlolwa kwelebhu kanye nezilwane: Isinyathelo sokuqala ukuhlola umuthi kumaseli nezilwane elabhorethri. Lokhu kuhlonza ukuthi umuthi uyingozi noma uzolimaza izitho zomzimba. Cabanga nje, cishe umuthi owodwa kuphela kweziyi-10,000 omusha odlula zonke lezi zithiyo futhi uvunyelwe.
2. Izivivinyo Zemitholampilo: Ngemva kokuba ukuhlolwa kwezilwane kuphumelele, izivivinyo zabantu zenziwa ngezigaba eziningana.
Injani imiphumela yokuhlolwa kwe-Crinecerfont?
Izilingo ezenziwe kulo muthi ziveze imiphumela emihle kakhulu. Ikakhulukazi izivivinyo zeSigaba II kanye neSigaba III zibaluleke kakhulu.
Isigaba II - Imiphumela yezingane ezincane
Lapha, iqembu elincane lezingane ezincane (ezineminyaka engu-14-17) ezine-CAH zanikezwa umuthi izinsuku ezingu-14 futhi kwabonakala izinguquko emazingeni azo ama-hormone. Imiphumela yayimangalisa.
- I-ACTH (isignali yobuchopho) yehle ngo-57% .
- I-17-OHP (inkomba yokukhiqizwa kwe-androgen) yehle ngo-69% .
- I-Androstenedione (uhlobo lwe-androgen) yehle ngo-58% .
Isigaba III - Imiphumela yamaqembu amakhulu
Bekhuthazwe yile miphumela, ososayensi benze izivivinyo ezimbili ezinkulu besebenzisa abantu abadala nezingane, lapho abanye banikezwa umuthi iCrinecerfont kanti abanye banikezwa i-placebo eyayifana nomuthi kodwa ingenamphumela.
| Ithimba | Umphumela oyinhloko | Incazelo |
|---|---|---|
| Abantu abadala (bethatha i-Crinecerfont) | Ukunciphisa umthamo we-steroid | Ngokulawula amazinga ama-hormone, kwakungenzeka ukunciphisa umthamo wansuku zonke wama-steroid ngo-27% . |
| Abantu abadala (bathathe i-placebo) | Ukunciphisa umthamo we-steroid | Umthamo we-steroid wehliswe ngo-10% kuphela. |
| Izingane (zithatha i-Crinecerfont) | Amazinga e-Androgen kanye nomthamo we-steroid | Ngemva kwamasonto ama-4, amazinga e-androgen ehla kakhulu. Ekupheleni kokuhlolwa, umthamo we-steroid wehliswa ngo-18% . |
| Izingane (zathatha i-placebo) | Amazinga e-Androgen kanye nomthamo we-steroid | Amazinga e-androgen akhuphukile. Umthamo we-steroid kwadingeka ukhushulwe cishe ngo-6%. |
Le miphumela ikhombisa ngokusobala ukuthi i-Crinecerfont isiza ukulawula amazinga e-androgen, kuyilapho futhi inciphisa umthamo wama-steroid angaba yingozi ezigulini isikhathi eside.
Uphephe kangakanani lo muthi?
Ucwaningo lubonise ukuthi lo muthi awunazo imiphumela emibi eminingi. Iningi lemiphumela emibi ebikiwe incane futhi yesikhashana.
- Ukukhathala
- Ikhanda elibuhlungu
- Ikhala elibandayo noma elicijile
- Ubuhlungu bemisipha noma besisu
- Ubuhlungu bamalunga
Isixwayiso esikhulu kuphela esiza nalo muthi ukuthi uma ungathathi umthamo oqondile wama-steroid udokotela wakho akunike wona , amazinga akho e-cortisol angehla kakhulu, okuholela esimweni esisongela ukuphila esibizwa ngokuthi ukungasebenzi kahle kwe-adrenal. Kodwa-ke, akekho othathe umuthi kahle ocwaningweni oke wabhekana nalesi simo . Ngakho-ke, kubaluleke kakhulu ukulandela imiyalelo kadokotela wakho.
Ithemba elisha lokwelashwa kwe-CAH
Ngenxa yale miphumela ephumelelayo, i-FDA (inhlangano eyinhloko evumela izidakamizwa) e-United States inikeze imvume ekhethekile yalo muthi. I-Crinecerfont (igama lomkhiqizo i-Crenessity) ayilona ikhambi le-CAH. Kodwa-ke, kuyisinyathelo esikhulu ekwelapheni i-CAH.
Odokotela manje sebengakunikeza lo muthi ngaphezu kokwelashwa kwakho kwamanje kwe-steroid (ukwelashwa okwengeziwe) . Lokhu kungasiza ekunciphiseni umthamo wakho we-steroid. Lokhu kusho ukuthi ungase ube nemiphumela emibi embalwa evela kuma-steroids, ulawule kangcono amazinga akho e-hormone, futhi ube nekhwalithi engcono yokuphila.
Umlayezo Wokuya Nawe Ekhaya
- I-CAH (Congenital Adrenal Hyperplasia) yisifo esithinta izakhi zofuzo esithinta izindlala ze-adrenal futhi sibangela ukungalingani kwama-hormone.
- I-Crinecerfont (Crenessity) umuthi osanda kuvunyelwa we-CAH, onikezwa ngaphezu kokwelashwa ngama-steroid.
- Lokhu kunciphisa amazinga aphezulu e-androgen hormone emzimbeni futhi kungasiza ekunciphiseni umthamo wansuku zonke wama-steroids.
- Ngokunciphisa umthamo wama-steroid, kunethuba lokunciphisa imiphumela emibi ehambisana nokusetshenziswa kwama-steroid isikhathi eside.
- Nakuba lokhu kungeyona ikhambi lalesi sifo, kuyisinyathelo esikhulu ekuthuthukiseni ikhwalithi yokuphila kweziguli ze-CAH.
- Uma wena noma ingane yakho ine-CAH, kubalulekile ukukhuluma nodokotela wakho we-endocrinologist noma udokotela womndeni ukuze ubone ukuthi lolu hlobo olusha lokwelashwa lukulungele yini .
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