Ingabe ingane yakho ihlushwa yinto efana nale? Ake sifunde nge-Congenital Adrenal Hyperplasia (CAH)!

Ngezinye izikhathi uma ubheka umntwana osanda kuzalwa, noma ingane ekhula kancane, kungenzeka ukuthi uke waphawula izinguquko ezithile. Mhlawumbe udokotela ukutshelile ukuthi ingane yakho inesifo esibizwa ngokuthi `(Congenital Adrenal Hyperplasia)` noma `(CAH)`. Ungesabi uma uzwa leli gama. Nakuba liyinkimbinkimbi kancane, ake sixoxe ngalo ngesiSinhala esilula nesiqondakalayo. Njengoba nje ukhuluma nomngane wakho.

Kuyini i-congenital adrenal hyperplasia (CAH)?

Kalula nje, i-CAH yisimo sokuzalwa, noma sofuzo, esithinta kakhulu izindlala ze-adrenal emizimbeni yethu. Uyakhumbula, kunezindlala ezimbili ezincane phezu kwezinso zethu? Yilokho esikubiza ngokuthi izindlala ze-adrenal . Nakuba zincane, zikhiqiza ama-hormone amaningana abalulekile abalulekile ekusebenzeni kahle kwemizimba yethu.

Ake sibone ukuthi lawa ma-hormone ayini:

• I-Cortisol: Le hormone isiza umzimba wethu ukubhekana nokucindezeleka, ukugula, kanye nokulimala. Ibalulekile futhi ekulawuleni izinto ezifana nomfutho wegazi, amazinga amandla, kanye namazinga kashukela egazini.
• I-Aldosterone: Le hormone isiza ukugcina inani elifanele likasawoti (i-sodium) namanzi emizimbeni yethu. Iyadingeka futhi ukulawula umfutho wegazi kanye nomthamo wegazi.
• Ama-Androgen: Lawa ama-hormone obulili besilisa (isibonelo, i-testosterone). Lawa ma-hormone abalulekile ekukhuleni, ekukhuleni okuvamile, nasekuthuthukisweni.

Manje, okwenzekayo kumuntu one-`(CAH)` ukuthi eyodwa noma ngaphezulu yala ma-enzyme asiza izindlala ze-adrenal ukuthi zenze lawo ma-hormone abalulekile iyancipha noma ayikho. Ngaphandle kwale enzyme, izindlala ze-adrenal azikwazi ukusebenza kahle. Bese:

• Mhlawumbe awukhiqizi i-cortisol eyanele.
• Kungenzeka ukuthi akukhiqizwa i-aldosterone eyanele.
• Mhlawumbe kukhiqizwa i-androgen eningi kakhulu.

Lokhu kungalingani kwama-hormone yilokho okwenzeka kakhulu esimweni `(CAH)`.

Yiziphi izinhlobo eziyinhloko ze-`(CAH)`?

Kunezinhlobo ezimbili eziyinhloko ze-CAH. Lezi zinhlobo ezimbili zibanga u-95% wamacala.

1. I-CAH yakudala: Lolu uhlobo lwe-CAH olunzima kakhulu nolunzima kakhulu . Lungabangela izinkinga ezinkulu ezihilela izindlala ze-adrenal, njengokushaqeka ngisho nokuquleka. Lungaba yingozi empilweni uma lungatholakali futhi lwelashwe kusenesikhathi. Lesi simo se-CAH sakudala sivame ukutholakala lapho umuntu ezalwa.

Lokhu futhi kunezinhlobo ezimbili ezincane:

• I-CAH echitha usawoti: Yilokhu okuku-(CAH)Uhlobo olubi kakhulu . Kulesi simo, izindlala ze-adrenal zikhiqiza i-aldosterone, ephansi kakhulu. Uma i-aldosterone ilahleka, umzimba awukwazi ukulawula izinga likasawoti (i-sodium) egazini. Lokhu kubangela ukuthi i-sodium eningi ikhishwe emchameni. Ngaphezu kwalokho, i-cortisol nayo ikhiqizwa kancane, kodwa ama-androgen akhiqizwa kakhulu.
• I-CAH elula: Lolu uhlobo oluthambile lwe-CAH . Kulesi simo, ukuntuleka kwe-aldosterone akukubi kangako. Ngakho-ke, azikho izimpawu ezisongela impilo. Kodwa-ke, kukhona ukukhiqizwa okuncane kwe-cortisol kanye nokukhiqizwa kwe-androgen okuningi. Lokhu kukhiqizwa kwe-androgen ngokweqile kungabangela izimpawu ezihlobene nokukhula kocansi.

2. I-CAH Engeyona eyejwayelekile: Lolu uhlobo oluthambile kakhulu lwe-CAH. Ngokuvamile luvela ebuntwaneni, ebusheni, noma ebudaleni. Izimpawu zingase zibe khona noma zingabi khona. Lokhu kungabangelwa nokukhiqizwa ngokweqile kwe-androgen, okungaholela ezimpawini ezihlobene nokukhula ngokocansi.

Ngaphezu kwalezi zinhlobo eziyinhloko, kunezinye izinhlobo eziningana ezingavamile ze-CAH, ngayinye enezimpawu ezihlukile.

Ubani ongathola i-CAH? Kuvamile kangakanani lokhu?

Lesi simo esibizwa ngokuthi ``(CAH)`` singakhula kunoma ubani. Lokho kusho ukuthi singathinta izinsana, izingane, abantu abadala, nanoma ubani.

Emazweni afana neMelika neYurophu, i-CAH yakudala ithinta cishe umuntu oyedwa kwabayizinkulungwane eziyishumi kuya kwabayizinkulungwane eziyishumi nanhlanu. I-CAH engeyona yakudala ayivamile kangako, ithinta cishe umuntu oyedwa kwabayikhulu kuya kwabayikhulu. Zombili izinhlobo zitholakala emhlabeni wonke.

Ziyini izimpawu ze-`(CAH)`?

Izimpawu ze-CAH zingahluka kuye ngohlobo kanye nobulili. Isibonelo, ezinye izingane zizalwa zinezimpawu, kanti ezinye ziba nezimpawu njengoba zikhula.

Izimpawu ze-Classic CAH

Ku-CAH yakudala, amazinga e-androgen aphezulu kakhulu. Lokhu kungabangela izimpawu ezihlobene nama-hormone ocansi. Kokubili i-CAH echitha usawoti kanye ne-CAH elula evuselela amagciwane ingabangela izimpawu ezifana nalezi:

• Izitho zobulili ezingacacile ezinganeni zabesifazane: Lokhu kusho ukuthi izitho zobulili zangaphandle zomntwana zingase zibukeke njengezomntwana wesilisa. Kodwa-ke, izitho zobulili zangaphakathi zowesifazane (njengeziqanda kanye nesibeletho) zivamile.
• Ipenisi ekhulisiwe ezinganeni zesilisa.
• Izimpawu zokuthomba ngaphambi kwesikhathi: Isibonelo, ukushintsha kwezwi, induna enkulu, nokukhula kwezinwele kusenesikhathi emakhwapheni, ezindaweni zangasese, nasebusweni.
• Ukuvela kwezimpawu zobudoda emantombazaneni: ukukhula kwemisipha, ukujula kwezwi, kanye nokukhula kwezinwele zobuso ezingafuneki.
• Ukukhula okusheshayo kakhulu (ezigabeni zokuqala).
• Umjikelezo wokuya esikhathini ongajwayelekile.
• Izimila zamasende ezingembi.
• Ukungazali.

Ngaphezu kwalokho, ikakhulukazi kubantu abane -CAH echitha usawoti , ukungalingani kwama-hormone kungabangela izimpawu ezinkulu ze-adrenal. Lezi ziyingozi kakhulu futhi zidinga ukwelashwa ngokushesha :

• Ukuphelelwa amanzi emzimbeni.
• Ukwehla kwamazinga e-sodium egazini (i-Hyponatremia).
• Umfutho wegazi ophansi (i-Hypotension).
• Ukushaya kwenhliziyo okungajwayelekile (i-Arrhythmia).
• Amazinga kashukela aphansi egazini (i-Hypoglycemia).
• Ukwanda kwe-asidi egazini (i-Metabolic acidosis).
• Ukuhlanza.
• Uhudo.
• Ukwehlisa isisindo.
• Isimo sokushaqeka `(Ukushaqeka)`.

Okubalulekile: Lezi zimpawu ze-CAH echitha usawoti, ikakhulukazi kosana olusanda kuzalwa, ziyisimo esiphuthumayo. Kufanele ubonane nodokotela ngokushesha.

Izimpawu ze-Nonclassic CAH

I-CAH engeyona eyendabuko iyisifo esithambile. Ungase ungazi nokuthi unaso. Izimpawu zivame ukuba zincane, kodwa zingafaka:

• Ukukhula okusheshayo kakhulu (ezigabeni zokuqala).
• Induna.
• Ukuthomba ngaphambi kwesikhathi.
• Ukukhula kwezinwele okungafunwa ebusweni noma emzimbeni wabesifazane.
• Umjikelezo wokuya esikhathini ongajwayelekile.
• Ukungazali.
• Impandla yephethini yabesilisa (ekuqaleni).
• Abesilisa banezitho zangasese ezinkulu kodwa amasende amancane.

Yini ebangela `(CAH)`?

Ezimweni eziningi, imbangela eyinhloko ye-CAH ukuntuleka noma ukungabikho kwe-enzyme engu-21-hydroxylase. Ukuguquka kwezakhi zofuzo kuthinta amazinga ale enzyme. Akuvamile ukuthi ukuntuleka kwe-enzyme engu-11-hydroxylase nakho kungabangela i-CAH.

I-CAH isifo sokuwohloka kwe-autosomal . Uyazi ukuthi kusho ukuthini lokho? Sithola amakhophi amabili esakhi ngasinye - esisodwa esivela kumama wethu kanye nesinye esivela kubaba wethu. I-CAH yenzeka kuphela lapho ingane izuza ikhophi yesakhi esibangela lokhu kuntuleka kwama-enzyme kubo bobabili abazali. Uma umuntu enesakhi esisodwa esiguquliwe, angaba ngumthwali walesi sifo kodwa angakhombisi izimpawu.

Odokotela basixilonga kanjani (baxilonga kanjani) isimo `(CAH)`?

I-CAH yakudala

Ngaphambi kokuba ingane yakho ibuyele ekhaya isuka esibhedlela, odokotela bazohlola ingane ukuthi ayinayo yini i-"(CAH)". Lokhu kuvamile.Ingxenye yokuhlolwa kokuhlolwa kosana olusanda kuzalwa, lokhu kwenziwa ngokuthatha iconsi elincane legazi esithendeni somntwana. Lokhu kungabonisa ukuthi une-CAH yakudala.

Uma ukhulelwe futhi usuvele unengane ene-CAH, ungenza ukuhlolwa kofuzo ngaphambi kokukhulelwa ngesikhathi sokukhulelwa . Udokotela wakho angenza i-amniocentesis (ukuhlolwa koketshezi olusesibelethweni sakho) noma isampula ye-chorionic villus (ukuhlolwa kwengxenye ye-placenta) ukuze abone ukuthi unayo yini i-CAH.

I-CAH engeyona eyakudala

I-Nonclassic CAH ivame ukutholakala ngemva kokuba wena noma ingane yakho niqale ukubonisa izimpawu. Ngezinye izikhathi, kungenzeka futhi nasebudaleni. Udokotela wakho uzokwenza okulandelayo ukuze athole lesi simo:

• Ukuhlolwa ngokomzimba.
• Ukuhlolwa kwegazi.
• Ukuhlolwa komchamo.
• Ukuhlolwa kofuzo.

Iphathwa kanjani i-CAH?

Ukwelashwa kwe-CAH kuncike ohlotsheni kanye nobukhali bezimpawu. Akukho ukwelashwa kwe-CAH. Kodwa-ke, imithi kanye nezinye izindlela zokwelapha zingasiza ekulawuleni izimpawu futhi ziphile impilo enempilo.

Ukwelashwa kwe-CAH okujwayelekile

Udokotela wakho uzoqapha isimo sakho njalo. Bazokwenza ukuhlolwa kwegazi njalo ukuhlola amazinga akho ama-hormone. Umgomo oyinhloko wokwelashwa ukuqinisekisa ukukhula okuvamile kanye nentuthuko yocansi.

Udokotela wakho angase akunike imithi efana nalena yokwelapha izimpawu zakho:

• Izithasiselo zikasawoti: Izingane ezisanda kuzalwa zingadinga izithasiselo ze-sodium chloride (ikakhulukazi amafomula achitha usawoti).
• Ama-Glucocorticoids: Lawa asebenza ngokuthatha indawo ye-hormone i-cortisol, engakhiqizwa ngumzimba. Kungadingeka ukuthi wandise umthamo walo muthi uma ugula, udangele, noma ucindezelekile.
• Ama-Mineralocorticoids: Lawa asetshenziselwa ukuthatha indawo ye-hormone i-aldosterone, engakhiqizwa ngumzimba.

Uma une-Classic CAH, kufanele uphuze le mithi nsuku zonke impilo yakho yonke. Uma uyeka ukuthatha imithi, izimpawu zakho zizobuya.

Enye indlela yokwelapha ukuhlinzwa kwezingane zesifazane ezinezitho zobulili ezingacacile. Lokhu kuhlinzwa kungenziwa phakathi kwezinyanga ezimbili kuya kweziyisithupha ngemva kokuzalwa ukuze kubuyiselwe ukubukeka nokusebenza kwezitho zobulili zangaphandle. Kwezinye izimo, ukuhlinzwa kungabambezeleka iminyaka eminingana. Lokhu kufanele kuxoxwe ngokucophelela nodokotela wakho ngaphambi kokwenza isinqumo.

Ukwelashwa kwe-CAH okungeyona eyakudala

Uma ungenazo izimpawu, ungase ungadingi ukwelashwa. Uma unezimpawu ezincane, ungase unikezwe imithamo ephansi yama-glucocorticoids. Laba bantu ngokuvamile abadingi ukwelashwa impilo yonke.

Uma wena noma ingane yakho nine-CAH, kubalulekile ukufuna ukunakekelwa kwempilo yengqondo. Lokhu kungenxa yokuthi izinkinga eziningi ezihambisana nalesi simo (njengezinguquko zomzimba, ukungazali, njll.) zingaba nomthelela ngokwengqondo. Ngakho-ke, ukwesekwa kwempilo yengqondo kuyingxenye ebalulekile yokwelashwa kwe-CAH. Kungathuthukisa ikhwalithi yokuphila.

Yiziphi izinkinga ezingaba khona ze-CAH?

Ku-CAH yakudala, ikakhulukazi uhlobo oluchitha usawoti, amanzi amaningi kanye nosawoti kuyalahleka emchameni. Lokhu kungaholela ezinkingeni ezinkulu njengokungalingani kwe-electrolyte (isb. i-potassium) . Uma kungelashwa, lokhu kungalingani kungabangela:

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

I-CAH engelashwanga engeyona eyejwayelekile nayo ingabangela izinkinga. Kwabesilisa:

• Ukuthomba kwasekuqaleni.
• Ubufushane bomzimba (ukwehla kobude).

Kwabesifazane:

• Izici zomzimba wesilisa ezihlala njalo.
• Ukuya esikhathini okungajwayelekile.
• Ukungazali.

Kukhona futhi ingozi yezinkinga ezithile (njengokutheleleka, ukopha, kanye nezibazi) ngenxa yokuhlinzwa okwenziwa ezithweni zobulili ezingacacile.

Ingabe `(CAH)` ingavinjelwa?

Ngenxa yokuthi i-CAH iyisimo sofuzo, ayinakuvinjelwa. Uma othile emndenini wakho ene-CAH, noma uma usuvele unengane ene-CAH, cabanga ngokwelulekwa ngofuzo kanye/noma ukuhlolwa ngofuzo . Lokhu kuzokusiza uqonde ingozi yokuthi izingane zakho zizuze lesi simo njengefa.

Sinjani isimo ngemva kokwelashwa kwe-`(CAH)`?

Uma kutholakale kusenesikhathi futhi kwelashwa kahle, abantu abane-CAH bangaphila impilo enempilo nekhiqizayo. Abantu abane-CAH yakudala kuzodingeka baphuze imithi nsuku zonke impilo yabo yonke. Izimpawu zingase zibuye uma imithi iyekwa.

Iningi labantu abane-CAH liphilile kahle, kodwa bangase babe bafushane kunabanye abantu abadala. Kwezinye izimo, i-CAH ingathinta ukuzala. Uma wazalwa unezitho zobulili ezingacacile, ungadinga ukwesekwa kwengqondo. Uma unezinkinga ngemva kokwelashwa, ungesabi ukukhuluma nodokotela wakho.

Unganciphisa kanjani isisindo nge-`(CAH)`?

Eminye imithi esetshenziselwa ukwelapha i-CAH (ikakhulukazi ama-glucocorticoids) ingabangela ukukhuluphala. Khuluma nodokotela wakho ngesisindo sakho. Anganquma ukuthi ukukhuluphala kubangelwa umuthi noma esinye isimo sezokwelapha. Isilinganiso semithi yakho singadinga ukulungiswa. Angakusiza futhi ukuthi wakhe uhlelo lokudla nokuzivocavoca ukuze akusize ugcine isisindo esinempilo.

Ingabe `(CAH)` ukukhubazeka?

Ezinye izinhlangano zingase zibheke izifo ze-adrenal gland njengokukhubazeka. Ukuthi i-CAH iyafaneleka yini njengokukhubazeka kunqunywa yizinkinga ezivela kuleso sifo esithile.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho inesifo sofuzo. Kodwa-ke, izingane ezizalwa zine-Congenital Adrenal Hyperplasia (CAH) zinekusasa elingcono uma lesi simo sitholakala kusenesikhathi futhi selashwa kahle.

Khumbula lezi zinto:

• (CAH) yisimo sofuzo esithinta ukukhiqizwa kwama-hormone ezindlala ze-adrenal.
• I-CAH yakudala iwuhlobo olubi kakhulu futhi ingatholakala ngokuhlolwa kosana olusanda kuzalwa.
• Ukuxilongwa kusenesikhathi kanye nemithi yempilo yonke (ye-CAH yakudala) kubaluleke kakhulu.
• Ukwelashwa kungalawula izimpawu futhi kuvumele ukukhula nokukhula okuvamile.
• Abanye abantu bangadinga ukwesekwa kwezempilo yengqondo kanye nokwelulekwa.
• Uma uhlela ukukhulelwa futhi unomlando womndeni we-CAH, khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo.

Ungakhathazeki, awuwedwa. Uma uneminye imibuzo mayelana ne-`(CAH)`, buza udokotela wakho. Bangakusiza.

I- Congenital Adrenal Hyperplasia, i-CAH, izindlala ze-Adrenal, i-Cortisol, i-Aldosterone, i-Androgen, ukungalingani kwama-hormone, ukuphazamiseka kwezakhi zofuzo, ukuhlolwa kwezinsana, ama-hormone, izifo zezakhi zofuzo, izindlala ze-Adrenal