Ingabe kuyinkinga yamahomoni? Ake sifunde nge-Congenital Adrenal Hyperplasia (CAH) ngamazwi alula

Ingabe uke waphawula noma yiziphi izinguquko noma ukukhathazeka ngokubonakala kwezitho zangasese zendodakazi yakho esanda kuzalwa? Noma ingabe umfanyana wakho uqala ukubonisa izimpawu zokuthomba ngaphambi kosuku lwakhe lokuzalwa? Mhlawumbe ingane yakho iyahlanza, ivuvukele, noma imane ikhathele? Namuhla sizokhuluma ngesimo sofuzo esingabangela lezi zinto. Lokhu sikubiza ngokuthi i-Congenital Adrenal Hyperplasia, noma i-CAH ngamafuphi. Ungakhathazeki, igama lingase lizwakale liyinkimbinkimbi kancane, kodwa masiligcine lilula.

Kusho ukuthini nje i-CAH?

Kulungile, ake siqale sibheke ukuthi iyini i-CAH. Sonke sinezindlala ezimbili, njengezigqoko ezincane, ngaphezu kwezinso zethu. Lezi yizindlala esizibiza ngokuthi izindlala ze-adrenal. Lezi zindlala ezimbili ezincane zikhiqiza ama-hormone amaningana abaluleke kakhulu abalulekile ekusebenzeni kwemizimba yethu.

• I-Cortisol: Lena yi-hormone yokucindezeleka eyinhloko emzimbeni wethu. Ilungiselela umzimba ukubhekana nokugula, ingozi, kanye nokucindezeleka. Iphinde isize ekulawuleni umfutho wegazi, amazinga amandla, kanye namazinga kashukela egazini.
• I-Aldosterone: Le hormone isiza ukugcina ibhalansi efanele kasawoti (i-sodium) namanzi emizimbeni yethu, ngaleyo ndlela ilawule umfutho wegazi kanye nomthamo wegazi.
• Ama-Androgen: Lawa ama-hormone ocansi wesilisa. I-Testosterone ingenye yama-hormone anjalo. Lawa ma-hormone abaluleke kakhulu ekuqaleni kokuthomba, ukukhula okuvamile kanye nentuthuko.

Manje, okwenzekayo kumuntu one-CAH ukuthi i-enzyme ethile edingekayo ukukhiqiza la ma-hormone ayikho noma iyancipha emzimbeni. Njengoba nje uma isinongo singekho esitsheni, ukunambitheka kwesitsha kuyashintsha, lapho le enzyme ingekho, izindlala ze-adrenal azikwazi ukukhiqiza la ma-hormone ngendlela efanele.

Ngakho-ke kwenzekani?

• Mhlawumbe i-hormone i-cortisol ayikhiqizwa kakhulu ngangokunokwenzeka.
• Mhlawumbe i-hormone i-aldosterone ayikhiqizwa kakhulu ngangokunokwenzeka.
• Kunalokho, ama-hormone wesilisa abizwa ngokuthi ama-androgens aqala ukukhiqizwa ngokweqile .

Lokhu kungalingani kwama-hormone kuyimbangela yazo zonke izinkinga ezivela ku-CAH.

Ingabe zikhona izinhlobo eziyinhloko ze-CAH?

Yebo, kunezinhlobo ezimbili eziyinhloko ze-CAH. Ama-95% eziguli ezitholakale zine-HIV awela kulezi zinhlobo ezimbili.

1. I-CAH yakudala: Lolu uhlobo lwe-CAH olunzima kakhulu nolunzima kakhulu. Ngokuvamile lutholakala lapho luzalwa. Uma lungelashwa kahle, lungaholela ekushaqekeni, ekukhomeni, ngisho nasekufeni. Ngakho-ke, kubaluleke kakhulu ukuxilonga nokwelapha lesi simo kusenesikhathi.Kunezinhlobo ezimbili ezincane zalolu hlobo.

• I-CAH echitha usawoti: Lolu uhlobo olubi kakhulu lwe-CAH. Kulesi simo, i-hormone i-aldosterone ikhiqizwa ngamanani aphansi kakhulu. Lokhu kubangela ukuthi umzimba ungakwazi ukulawula amazinga ayo kasawoti (i-sodium). Ngenxa yalokho, usawoti omningi ukhishwa emchameni. Ngesikhathi esifanayo, i-hormone i-cortisol nayo iyancipha, kanti i-hormone i-androgen ikhiqizwa ngokweqile.
• I-CAH elula ekhipha usawoti (uhlobo oluvamile): Lesi yisimo esingesibi kangako. Lapha, ukuntuleka kwe-hormone ye-aldosterone akukubi kangako. Ngakho-ke, izimpawu ezisongela impilo aziveli. Kodwa-ke, i-hormone ye-cortisol isephansi kanti i-hormone ye-androgen iphezulu. Lokhu kubangela izinkinga ezihlobene nokukhula kocansi.

2. I-CAH Engeyona eyejwayelekile: Lolu uhlobo oluthambile kakhulu lwe-CAH. Ngokuvamile lutholakala ebuntwaneni, ebusheni, noma ebudaleni. Abanye abantu bangase bangabi nazimpawu nhlobo. Nalapha futhi, ezinye izimpawu ezihlobene nokukhula ngokocansi zingase zenzeke ngenxa yokukhiqizwa ngokweqile kwama-hormone e-androgen.

Yiziphi izimpawu ezingaba khona ze-CAH?

Izimpawu ze-CAH zingahluka kuye ngohlobo kanye nobulili. Ake sibheke ithebula elingezansi ukuze sikuqonde kahle lokhu.

Kungani i-CAH ikhula? Iyini imbangela?

Kalula nje, i-CAH iyisifo esibangelwa ufuzo . Lokhu kusho ukuthi yinto esiyizuza njengefa kubazali bethu. Akusona isifo esithelelanayo.

Kuzo zonke izici emzimbeni wethu, kunezakhi zofuzo ezimbili, esisodwa esivela kumama wethu nesinye esivela kubaba wethu. Ukuze i-CAH ivele, ingane kumele izuze ifa lezakhi zofuzo ezinephutha kumama nakubaba wayo . Lesi simo sibizwa ngokuthi i-autosomal recessive disorder.

I-CAH ivame ukubangelwa ukuntuleka kwe-enzyme engu-21-hydroxylase. Ibangelwa ukuguquka kwezakhi zofuzo okudala le enzyme.

Uthola kanjani ukuthi une-CAH?

I-CAH yakudala (uhlobo olunzima)

Lezi yizindaba ezinhle kakhulu. Izibhedlela eziningi eSri Lanka manje zifaka ukuhlolwa kokuhlolwa kwe-Classic CAH phakathi kokuhlolwa okwenziwa lapho kuzalwa umntwana. Lokhu kwenziwa ezinsukwini ezimbalwa ngemva kokuzalwa komntwana, kusetshenziswa ithonsi elincane legazi elithathwe esithendeni somntwana . Lokhu kuhlolwa (ukuhlolwa kosana olusanda kuzalwa) kungasheshe kutholakale ukuthi umntwana une-Classic CAH. Lokhu kusho ukuthi ukwelashwa kungaqalwa ngaphambi kokuba kuvele izimpawu, kusindise impilo yomntwana.

Uma umndeni onengane esivele ine-CAH ulindele omunye umntwana, kungenzeka ukuhlola ingane ngesimo sayo ngesikhathi sokukhulelwa. Kunezivivinyo ezikhethekile zalokhu, njenge-amniocentesis. Khuluma nodokotela wakho ngalokhu.

I-CAH engeyona eyendabuko (uhlobo oluthambile)

Lolu hlobo olulula lungase luphuze kancane ukulibona ngoba izimpawu zivela kamuva. Uma wena noma ingane yakho niqala ukuzwa izimpawu ezishiwo ngenhla, kufanele nibone udokotela. Udokotela uzokwenza okulandelayo:

• Kuhlolwa umzimba.
• Ukuhlolwa kwegazi kanye nokuhlolwa komchamo kuhlola amazinga ama-hormone.
• Ngezinye izikhathi ukuhlolwa kwezakhi zofuzo kungaqinisekisa lesi sifo.

Yiziphi izindlela zokwelapha lokhu?

I-CAH ayikwazi ukwelapheka ngokuphelele. Kodwa-ke, ngokwelashwa okufanele, ingalawulwa kahle futhi ungaphila impilo evamile nenempilo ngokuphelele . Ukwelashwa kuncike ohlotsheni lwesifo kanye nobunzima bezimpawu.

Ukwelashwa kwe-Classic CAH

Laba bantu kufanele baphuze imithi nsuku zonke impilo yabo yonke . Umgomo oyinhloko wokwelashwa ukulinganisela amazinga ama-hormone ngokunikeza ama-hormone antulayo emzimbeni. Lokhu kusiza ukuqinisekisa ukukhula okuvamile kanye nentuthuko yocansi.

• Ama-Glucocorticoids: Le mithi ithatha indawo ye-cortisol hormone engakhiqizi umzimba. Umthamo wale mithi kungadingeka ukhuliswe uma ingane inesifo esifana nomkhuhlane, ukutheleleka, noma ngesikhathi sezimo ezicindezelayo njengokuhlinzwa.
• Ama-Mineralocorticoids: Lawa anikezwa ukuze athathe indawo ye-hormone i-aldosterone engakhiqizwa emzimbeni.
• Izithasiselo zikasawoti: Izingane ezisanda kuzalwa ezine-salt-wasting syndrome zinikezwa i-sodium chloride ukuze zithathe indawo kasawoti olahlekile emzimbeni.

Enye indlela yokwelapha ukuhlinzwa ukuze kulungiswe izitho zangasese ezingacacile emantombazaneni. Lokhu ngokuvamile kungenziwa phakathi kwezinyanga ezimbili neziyisithupha ngemva kokuzalwa komntwana.

Ukwelashwa kwe-nonclassic CAH

Abantu abanalolu hlobo oluthambile bangase bangadingi ukwelashwa uma bengenazo izimpawu. Uma benezimpawu ezincane, banganikwa imithamo ephansi yama-glucocorticoids. Laba bantu ngokuvamile abadingi ukwelashwa impilo yabo yonke.

Kunoma yisiphi salezi zimo, ukufuna ukwelulekwa ngempilo yengqondo ukuze ukhulume ngokucindezeleka nezinkinga ingane nabazali abangase babhekane nazo kuyingxenye ebaluleke kakhulu yokwelashwa.

Yiziphi izinkinga ezingaba khona uma zingelashwa?

Uma ingelashwa, ikakhulukazi uhlobo lwe-Classic CAH oluchitha usawoti, ingaba yingozi kakhulu. Ukulahlekelwa usawoti namanzi ngokweqile emzimbeni kungaholela ezinkingeni ezingaba yingozi ngisho nokuphila. Uma ingane ihlanza kakhulu, ixhuga, noma ingamunci , kufanele iyiswe eyunithi yokwelashwa okuphuthumayo esibhedlela (ETU) ngokushesha.

Yini engenzeka uma ingelashwa:

• Ukushaya kwenhliziyo okungajwayelekile (i-Arrhythmia)
• Ukuboshwa kwenhliziyo
• Ngisho nokufa kungenzeka.

I-CAH engeyona eyejwayelekile ingadala izinkinga ngisho noma ingelashwa. Isibonelo, ukungazali, imijikelezo yokuya esikhathini engajwayelekile, kanye nezici zabesilisa ezihlala njalo kwabesifazane.