I-hyperplasia yokuzalwa ye-adrenal

I-congenital adrenal hyperplasia yigama elinikezwe iqembu lezinkinga ezizuzwe njengefa le-adrenal gland.

Abantu banezindlala ezimbili ze-adrenal. Elinye litholakala ngaphezu kwesinso ngasinye. Lezi zindlala zenza ama-hormone, afana ne-cortisol ne-aldosterone, abalulekile empilweni. Abantu abane-hyperplasia yokuzalwa kwe-adrenal azalwa ne-enzyme izindlala ze-adrenal zidinga ukwenza ama-hormone.

Ngasikhathi sinye, umzimba ukhiqiza i-androgen eningi, uhlobo lwehomoni yocansi yowesilisa. Lokhu kubangela ukuthi izici zesilisa zivele ngaphambi kwesikhathi (noma ngokungafanele).

I-hyperplasia engokwemvelo ye-adrenal ingathinta abafana namantombazane. Cishe ingane eyodwa kwezingu-10 000 kuya kwezingu-18,000 zizalwa zine-hyperplasia yokuzalwa eyi-adrenal.

Izimpawu zizohluka, kuya ngohlobo lwe-congenital adrenal hyperplasia umuntu analo, nobudala babo lapho kutholakala ukugula.

• Izingane ezinamafomu amabi kungenzeka zingabi nazo izimpawu noma izimpawu ze-congenital adrenal hyperplasia futhi kungenzeka zingatholakali kuze kube sebusheni.
• Amantombazane anefomu elibi kakhulu avame ukuba nezitho zangasese zesilisa ngesikhathi sokuzalwa futhi angatholwa ngaphambi kokuba kuvele izimpawu.
• Abafana bazovela bejwayelekile lapho bezalwa, noma ngabe banefomu elibi kakhulu.

Ezinganeni ezinesimo esibi kakhulu sesifo, izimpawu zivame ukukhula phakathi kwamasonto amabili noma amathathu ngemuva kokuzalwa.

• Ukungondli kahle noma ukuhlanza
• Ukuphela kwamanzi emzimbeni
• Izinguquko ze-Electrolyte (amazinga angajwayelekile we-sodium ne-potassium egazini)
• Isigqi senhliziyo esingajwayelekile

Amantombazane anefomu elithokomele imvamisa azoba nezitho ezijwayelekile zokuzala zabesifazane (ama-ovari, isibeletho, namashubhu e-fallopian). Bangaba nezinguquko ezilandelayo:

• Isikhathi esingajwayelekile sokuya esikhathini noma ukwehluleka ukuya esikhathini
• Ukuvela kokuqala kwezinwele zasesidlangalaleni noma zekhwapha
• Ukukhula ngokweqile kwezinwele noma izinwele ebusweni
• Okunye ukukhuliswa kwe-clitoris

Abafana abanefomu elithambile bavame ukubonakala bejwayelekile lapho bezalwa. Kodwa-ke, bangahle babonakale bengena ebusheni ngaphambi kwesikhathi. Izimpawu zingafaka:

• Ukujulisa izwi
• Ukuvela kokuqala kwezinwele zasesidlangalaleni noma zekhwapha
• Umthondo okhulisiwe kepha izivivinyo ezijwayelekile
• Imisipha ekhule kahle

Bobabili abafana namantombazane bazoba bade njengezingane, kodwa babe mfushane kakhulu kunokujwayelekile njengabantu abadala.

Umhlinzeki wezokunakekelwa kwempilo yengane yakho uzo-oda izivivinyo ezithile. Ukuhlolwa kwegazi okuvamile kufaka:

• Ama-electrolyte weSerum
• I-Aldosterone
• URenin
• ICortisol

I-X-ray yesandla sobunxele nesihlakala ingakhombisa ukuthi amathambo engane abukeka njengawomuntu omdala kuneminyaka yakhe yangempela.

Ukuhlolwa kofuzo kungasiza ukuxilonga noma ukuqinisekisa lesi sifo, kepha kuyaqabukela kudingeke.

Inhloso yokwelashwa ukubuyisa amazinga ama-hormone abe esejwayelekile, noma eduze kokujwayelekile. Lokhu kwenziwa ngokuthatha uhlobo lwe-cortisol, imvamisa i-hydrocortisone. Abantu bangadinga imithamo eyengeziwe yomuthi ngezikhathi zokuxineka, njengokugula okunzima noma ukuhlinzwa.

Umhlinzeki uzonquma ubulili bezakhi zofuzo zengane enezitho zobulili ezingavamile ngokuhlola ama-chromosomes (karyotyping). Amantombazane anezitho zobulili ezibukeka njengabesilisa angahlinzwa izitho zangasese ngesikhathi esewusana.

I-Steroids esetshenziselwa ukwelapha i-adrenal hyperplasia yokuzalwa ayivame ukudala imiphumela emibi njengokukhuluphala noma amathambo abuthakathaka, ngoba imithamo ithatha indawo yamahomoni umzimba womntwana ongenakukwazi ukuwenza. Kubalulekile ukuthi abazali babike izimpawu zokutheleleka nokucindezeleka kumhlinzeki wengane yabo ngoba ingane ingadinga umuthi owengeziwe. Ama-steroid awakwazi ukumiswa kungazelelwe ngoba ukwenza kanjalo kungaholela ekutheni i-adrenal insufficiency.

Lezi zinhlangano zingasiza:

• Isisekelo se-National Adrenal Diseases Foundation - www.nadf.us
• Isisekelo seMAGIC - www.magicfoundation.org
• Isisekelo seCARES - www.caresfoundation.org
• I-Adrenal Insufficiency United - aiunited.org

Abantu abanalesi sifo kufanele bathathe umuthi impilo yabo yonke. Ngokuvamile banempilo enhle. Kodwa-ke, zingaba mfushane kunabantu abadala abajwayelekile, noma ngabe zelashwa.

Kwezinye izimo, i-congenital adrenal hyperplasia ingathinta ukuzala.

Izinkinga zingafaka:

• Umfutho wegazi ophezulu
• Ushukela wegazi ophansi
• I-sodium ephansi

Abazali abanomlando womndeni we-congenital adrenal hyperplasia (yanoma yiluphi uhlobo) noma ingane enalesi simo kufanele bacabangele ukwelulekwa ngezakhi zofuzo.

Ukuxilongwa ngaphambi kokubeletha kuyatholakala kwezinye izinhlobo ze-hyperplasia yokuzalwa engazalwanga. Ukuxilongwa kwenziwa ku-trimester yokuqala ngesampuli ye-chorionic villus. Ukuxilongwa ku-trimester yesibili kwenziwa ngokulinganisa ama-hormone afana ne-17-hydroxyprogesterone ku-amniotic fluid.

Ukuhlolwa kokuhlola okusanda kuzalwa kuyatholakala ngohlobo oluvame kakhulu lwe-congenital adrenal hyperplasia. Kungenziwa egazini lesithende segazi (njengengxenye yokuhlolwa okuvamile okwenziwa ezinganeni ezisanda kuzalwa). Lokhu kuhlolwa okwamanje kwenziwa ezindaweni eziningi.

Isifo se-Adrenogenital; Ukushoda kwe-21-hydroxylase; CAH

• Izindlala ze-adrenal

IDonohoue PA. Ukuphazamiseka kokukhula kocansi. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 606.

UYau M, uKhattab A, uPina C, uYuen T, uMeyer-Bahlburg HFL, uMI omusha. Amaphutha we-andrenal steroidsidogenesis. Ku: Jameson JL, De Groot LJ, de Kretser DM, et al, abahleli. I-Endocrinology: Eyabantu Abadala Neyengane. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 104.