I-hyperplasia yokuzalwa ye-adrenal

I-hyperplasia ye-adrenal ye-congenital ligama elinikezelwe kwiqela lesifo esizuze njengelifa le-adrenal gland.

Abantu bane-2 adrenal gland. Enye ibekwe ngaphezulu kwezintso zazo. La madlala enza iihomoni, ezinje ngecortisol kunye nealdosterone, eziyimfuneko ebomini. Abantu abane-hyperplasia ye-adrenal ye-congenital abanayo i-enzyme amadlala e-adrenal kufuneka enze iihomoni.

Kwangelo xesha, umzimba uvelisa i-androgen ngakumbi, uhlobo lwehomoni yesini eyindoda. Oku kubangela ukuba iimpawu zobudoda zivele kwangoko (okanye ngokungalunganga).

I-hyperplasia ye-adrenal ye-congenital inokuchaphazela amakhwenkwe kunye namantombazana. Malunga ne-1 kwi-10,000 ukuya kwi-18,000 yabantwana bazalwa benesifo sehrenplasia esizalwe naso.

Iimpawu ziya kwahluka, kuxhomekeka kuhlobo lokuzalwa kwe-adrenal hyperplasia umntu anayo, kunye nobudala babo xa isifo sifunyenwe.

• Abantwana abaneefom ezinobungqingili abanakho ukuba neempawu okanye iimpawu zokuzalwa kwe-adrenal hyperplasia kwaye banokungafunyanwa de kube sebusheni.
• Amantombazana anefom eqatha ngakumbi ahlala enamalungu esini ngexesha lokuzalwa kwaye anokufunyanwa ngaphambi kokuba kuvele iimpawu.
• Amakhwenkwe aya kubonakala eqhelekileyo ekuzalweni, nokuba anefom ebukhali ngakumbi.

Kubantwana abanesimo esibi ngakumbi sesi sifo, iimpawu zihlala zikhula ngaphakathi kweeveki ezi-2 okanye ezi-3 emva kokuzalwa.

• Ukungondli kakuhle okanye ukugabha
• Ukuphelelwa ngamanzi emzimbeni
• Utshintsho lwe-Electrolyte (amanqanaba angaqhelekanga esodiyam kunye nepotassium egazini)
• Isingqisho sentliziyo esingaqhelekanga

Amantombazana anefom eqinileyo aya kuhlala enamalungu esiqhelo okuzala ababhinqileyo (amaqanda, isibeleko, kunye neetyhubhu zesibeleko). Banokuba nolu tshintsho lulandelayo:

• Ukuya exesheni ngokungaqhelekanga okanye ukusilela ukuya exesheni
• Ukuvela kwangoko kwe-pubic okanye ikhwapha yeenwele
• Ukukhula kweenwele ngokugqithileyo okanye iinwele zobuso
• Olunye ukongezwa kwe-clitoris

Amakhwenkwe anomzimba ongaqhelekanga ahlala ebonakala eqhelekileyo xa ezalwa. Nangona kunjalo, banokubonakala ngathi banokufikisa kwangethuba. Iimpawu zingabandakanya:

• Ilizwi elomeleleyo
• Ukuvela kwangoko kwe-pubic okanye ikhwapha yeenwele
• Ukwandiswa kwepenisi kodwa iimvavanyo eziqhelekileyo
• Imisipha ephuhliswe kakuhle

Omabini amakhwenkwe kunye namantombazana aya kuba mde njengabantwana, kodwa amafutshane kakhulu kunesiqhelo njengabantu abadala.

Umboneleli wezempilo womntwana wakho uya kuyalela iimvavanyo ezithile. Uvavanyo lwegazi oluqhelekileyo lubandakanya:

• Iserum electrolyte
• IAldosterone
• URenin
• ICortisol

IX-reyi yesandla sasekhohlo kunye nesihlahla sinokubonisa ukuba amathambo omntwana abonakala ngathi ngawomntu omdala kuneminyaka yabo yokwenene.

Uvavanyo lweMfuza lunokunceda ukufumanisa okanye ukuqinisekisa ukungahambi kakuhle, kodwa kunqabile ukuba zifuneke.

Injongo yonyango kukubuyisela amanqanaba ehomoni kwindawo yesiqhelo, okanye kufutshane nesiqhelo. Oku kwenziwa ngokuthatha uhlobo lwe-cortisol, ihlala i-hydrocortisone. Abantu banokufuna amayeza awongezelelekileyo ngamaxesha oxinzelelo, njengokugula kakhulu okanye uqhaqho.

Umboneleli uya kugqiba ngesini semfuza somntwana onesini esingaqhelekanga ngokujonga ii-chromosomes (karyotyping). Amantombazana anamalungu obuni akhangeleka eyindoda anokuthi enze utyando kwilungu lobufazi ebuntwaneni.

I-Steroids esetyenziselwa ukunyanga i-adrenal hyperplasia ye-congenital ayibangi ziziphumo ebezingalindelekanga ezinje ngokutyeba kakhulu okanye amathambo abuthathaka, kuba iidosi zithatha indawo yamadlala angenakwenziwa ngumzimba womntwana. Kubalulekile ukuba abazali baxele iimpawu zosulelo kunye noxinzelelo kumboneleli womntwana wabo kuba umntwana unokufuna amayeza amaninzi. I-Steroids ayinakunqunyanyiswa ngequbuliso kuba ukwenza oko kungakhokelela ekusweleni kwe-adrenal.

Le mibutho ingaluncedo:

• Isiseko seSizwe seZifo zeAdrenal- www.nadf.us
• Isiseko seMAGIC- www.magicfoundation.org
• Isiseko seCARES- www.caresfoundation.org
• Ukungabikho kweAdrenal United - aiunited.org

Abantu abanale ngxaki kufuneka bathathe amayeza ubomi babo bonke. Bahlala benempilo entle. Nangona kunjalo, banokuba mfutshane kunabantu abadala abaqhelekileyo, kwanonyango.

Ngamanye amaxesha, i-hyperplasia ye-adrenal ye-congenital inokuchaphazela ukuzala.

Iingxaki zinokubandakanya:

• Igazi elonyukayo
• Iswekile esezantsi yegazi
• Isodiyam ephantsi

Abazali abanembali yosapho ye-adrenal hyperplasia (yalo naluphi na uhlobo) okanye umntwana onale meko kufuneka acinge ngokucebisa ngemfuzo.

Ukuxilongwa ngaphambi kokubeleka kuyafumaneka kwezinye iindlela zokuzalwa kwe-adrenal hyperplasia. Uxilongo lwenziwa kwikota yokuqala ngesampulu ye-chorionic villus. Ukuchongwa kwesifo kwikota yesibini yesibini kwenziwa ngokulinganisa iihomoni ezinje nge-17-hydroxyprogesterone kulwelo lwe-amniotic.

Uvavanyo lokuvavanywa komntwana osandul 'ukuzalwa luyafumaneka kwifomu eqhelekileyo ye-hyperplasia ye-congenital adrenal. Inokwenziwa kwisithende segazi lesithende (njengenxalenye yovavanyo olwenziwa rhoqo kwiintsana). Olu vavanyo lwenziwa ngoku kwiindawo ezininzi.

Isifo seAdrenogenital; Ukuswela kwe-21-hydroxylase; CAH

• Amadlala adrenal

IDonohoue PA. Ukuphazamiseka ekukhuleni kwesondo. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 606.

UYau M, uKhattab A, uPina C, uYuen T, uMeyer-Bahlburg HFL, uNew MI. Iimpazamo ze-andrenal steroidsidogenesis. Ku: Jameson JL, De Groot LJ, de Kretser DM, et al, ii-eds. Endocrinology: Abantu abadala kunye nabantwana. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; Ngo-2016: isahluko 104.