CAH (Congenital Adrenal Hyperplasia) vei te tan chanchin lawmawm tak! Crinecerfont chungchang hi han sawi ila

Nangmah emaw, i chhungte zinga tu emaw hian Congenital Adrenal Hyperplasia (CAH) tih natna i neih chuan hei hi i tan chanchin pawimawh tak a ni ang. Kum 70 hnuah he natna bik atana damdawi thar siam chu pawm a ni ta. Hei hi CAH nena khawsa te tan chuan beiseina ropui tak a ni tak zet a ni. Chuvangin he damdawi thar hi eng nge a nih, engtin nge a thawh tih leh a hlawkna te hi han thlir ila.

A hmasain i hrethiam ang u, CAH chu eng nge ni?

A awlsam zawngin sawi ila, CAH hi genetic disease a ni a, kan adrenal glands te a nghawng a ni. Heng glands te hi kan kal (kidney) chung lamah an awm a. Kan taksa tana pawimawh hormone engemaw zat an siam chhuak thin.

Adrenal gland hi factory angin han ngaihtuah teh. He factory atanga thil siam chhuah ber chu hormone cortisol an tih a ni. Hei hi hormone pawimawh tak a ni a, kan taksain stress, natna leh hlauhawm a tuar theih nan a pui a ni.

Mi hrisel takah cortisol level a tlahniam chuan thluak (factory manager ang bawkin) chuan ACTH tih signal (order) chu adrenal gland-ah "cortisol siam" turin a thawn a ni. Mahse CAH vei mi pakhatah chuan adrenal gland hian cortisol siamna atana mamawh key enzyme, a nih loh leh ‘worker’ a tlachham a ni. Chuvangin thluak hian ACTH engzat pawh thawn mahse factory hian cortisol a siam thei lo.

Hei hian zawhna pahnih a siam a:

1. Taksa hian cortisol mamawh a siam chhuak lo .

2. Thluak atanga ACTH signal a luang chhunzawm zel chuan adrenal gland atanga hormone chi dang , androgens an tih chu a tam lutuk a siam chhuak thin .

Heng androgens (e.g. testosterone) te hi mipa hormone an ni. Hmeichhia leh mipa pawhin ṭhenkhat chu an mamawh a, mahse CAH-ah chuan an sang lutuk. Hei hian naupang puitlin hma te, nau pai theih lohna te, leh naupang thanlenna kawngah harsatna dangte a thlen thei a ni .

Kum sawm tam tak chhung chu hei hi enkawlna ber chu pawn lam atanga cortisol ang maia thawk steroid (glucocorticoids) pek hi a ni. Hei hian taksain a tlakchham cortisol chu a thlak mai bakah thluak atanga ACTH signal lo lut chu a control a, androgens siamchhuahna a ti tlem bawk. Mahse, buaina chu hei hian a tlangpui aia steroid dose sang zawk hun rei tak ei a ngai a ni. Hei hian side effect tam tak a thlen thei a, chu chu taksa rihna sang, ruh hring, leh mut harsatna te hi a ni .

Engtin nge he damdawi thar hi i hmuh?

Scientist-te chuan he steroid harsatna hi chinfelna dang a awm em tih an ngaihtuah a. Pawn lam atanga steroid tam tak pek ai chuan thluak atanga ACTH signal lo chhuak direct-a tihtlem dan tur kan hmu a nih chuan engtin nge ni ang?

Chutah chuan target thar an hmu ta a ni. Thluaka receptor pakhat CRF1 an tih a ni. Cortisol level a tlahniam chuan ACTH signal chu CRF1 hian a tichhuak thin. CAH-ah chuan he kalphung hi tihbuai a ni.

Chuvangin scientist-te chuan, he CRF1 hi kan block chuan ACTH siamchhuah hi kan tihtlem thei ang tih an ngaihtuah a, a dik em? Chutiang a nih chuan androgens siamchhuahna pawh a control thei dawn a, damloin a ei tur steroid dose pawh a tlahniam dawn a ni.

Mite hnena damdawi pek hmaa test tih thin

Damdawi thar chu hmuhchhuah a nih veleh mi hnenah pek theih a ni lo. A him leh tangkai em tih finfiah nan test hrang hrang neih a ngai a ni. Crinecerfont damdawi hian heng step zawng zawng hi a paltlang vek a.

1. Laboratory leh rannung test: A hmasa ber chu laboratory-a cell leh rannung chunga damdawi test a ni. Hei hi damdawi chu toxic a nih leh nih loh hriat chian nan emaw, taksa peng hrang hrang a tichhe dawn em tih hriat nan a ni. Ngaihtuah teh, damdawi thar 10,000 zînga pakhat vêl chauhvin heng harsatna zawng zawng hi a paltlang a, pawm a ni.

2. Clinical Trials: Rannung testing a hlawhtlin hnuah mihring trial hi stage engemaw zatah neih thin a ni.

Crinecerfont test result hi engtin nge a awm?

He damdawi chungchanga trial an neihah hian result tha tak a awm a ni. A bik takin Phase II & Phase III trial te hi a pawimawh hle.

Phase II - Naupang naupang zawk result

Hetah hian CAH vei naupang tê (kum 14-17) te chu ni 14 chhung damdawi pek an ni a, an hormone level inthlak danglamna chu hmuh a ni. A result chu mak a ti hle.

• ACTH (thluak signal) chu 57% in a tlahniam a ni .
• 17-OHP (androgen siam chhuahna tilangtu) chu 69% in a tlahniam a ni .
• Androstenedione (androgen chi khat) chu 58% in a tlahniam a ni .

Phase III - Pawl lian tak takte result

Heng result-te hian an fuih a, scientist-te chuan puitling leh naupang hmangin trial lian pahnih an nei a, ṭhenkhat chu damdawi Crinecerfont pek an ni a, ṭhenkhat chu damdawi ang maia lang, mahse nghawng nei lo placebo pek an ni.

Heng result te hian Crinecerfont hian androgen level control a pui tih chiang takin a tarlang a, chutih rualin hun rei tak chhunga damlote tana hlauhawm thei steroid dose a tihhniam bawk.

He damdawi hi engtiang chiahin nge a him?

Zirna hrang hrangah he damdawi hian side effect na tak a nei tlem hle. Side effect report tam zawk hi chu a tenau leh rei lo te chauh a ni.

• Chau
• Lu na
• Hnar lum emaw, hnar khar emaw
• Muscle emaw pum na emaw
• Joint natna

The only major warning that comes with this medication is that you don’t take the exact dose of steroids your doctor prescribes , i cortisol level chu hlauhawm takin a tlahniam thei a, chu chuan nunna atana hlauhawm tak adrenal insufficiency tih a thlen thei a ni. Mahse, zirchiannaah hian damdawi ei dik tu mahin he natna hi an tawng lo . Chuvang chuan doctor thupek zawm a pawimawh hle.

CAH enkawlna tur beiseina thar

Heng result hlawhtling tak takte avang hian United States-a FDA (damdawi phalna petu ber) chuan he damdawi hi phalna bik a pe a ni. Crinecerfont (brand name Crenessity) hi CAH damdawi a ni lo. Mahse, CAH enkawlna kawngah hmasawnna lian tak a ni.

Tunah chuan doctor-te chuan tuna i steroid enkawlna (add-on therapy) bakah hian he damdawi hi an pe thei tawh ang . Hei hian i steroid dose tihtlem nan a pui thei a ni. Hei hian steroid avanga side effects i nei tlem zawk thei tihna a ni a, i hormone level i control tha zawk thei a, nunphung tha zawk i nei thei tihna a ni.