Ingaba umntwana wakho unengxaki efana nale? Masifunde ngeCongenital Adrenal Hyperplasia (CAH)!

Ngamanye amaxesha xa ujonga usana olusandul’ ukuzalwa, okanye umntwana okhula kancinci, kusenokwenzeka ukuba uqaphele utshintsho oluthile. Mhlawumbi ugqirha ukuxelele ukuba umntwana wakho unesifo esibizwa ngokuba yi-`(Congenital Adrenal Hyperplasia)` okanye `(CAH)`. Musa ukoyika xa usiva eli gama. Nangona liyinkimbinkimbi kancinci, masithethe ngalo ngesiSinhala esilula nesiqondakalayo. Njengokuba uthetha nomhlobo wakho.

Yintoni i-congenital adrenal hyperplasia (CAH)?

Ngamafutshane, i-CAH yimeko yokuzalwa, okanye yemfuza, echaphazela kakhulu amadlala e-adrenal emizimbeni yethu. Khumbula, kukho amadlala amabini amancinci phezu kwezintso zethu? Yiloo nto siyibiza ngokuba ngamadlala e-adrenal . Nangona emancinci, avelisa iihomoni ezininzi ezibalulekileyo ekusebenzeni kakuhle kwemizimba yethu.

Makhe sibone ukuba zeziphi ezi hormone:

• I-Cortisol: Le hormone inceda umzimba wethu ukuba ujongane noxinzelelo, ukugula, kunye nokwenzakala. Ikwabalulekile ekulawuleni izinto ezifana noxinzelelo lwegazi, amanqanaba amandla, kunye namanqanaba eswekile egazini.
• I-Aldosterone: Le hormone inceda ukugcina umlinganiselo ofanelekileyo wetyuwa (isodium) kunye namanzi emizimbeni yethu. Ikwafuneka ukulawula uxinzelelo lwegazi kunye nomthamo wegazi.
• IiAndrogens: Ezi ziihormone zesini zamadoda (umzekelo, i-testosterone). Ezi hormone zibalulekile ekukhuleni, ekukhuleni okuqhelekileyo, nasekuphuhliseni.

Ngoku, okwenzekayo kumntu one-`(CAH)` kukuba enye okanye ezingaphezulu kwezi enzymes ezinceda amadlala e-adrenal ukuba enze ezo hormone zibalulekileyo ziyancitshiswa okanye azikho. Ngaphandle kwale enzyme, amadlala e-adrenal awakwazi ukusebenza kakuhle. Emva koko:

• Mhlawumbi awuvelisi i-cortisol eyaneleyo.
• Kusenokwenzeka ukuba akuveliswa i-aldosterone eyaneleyo.
• Mhlawumbi kuveliswa i-androgen eninzi kakhulu.

Oku kungalingani kwamahomoni yikona okwenzeka kakhulu kwimeko ethi `(CAH)`.

Ziziphi iintlobo eziphambili ze-`(CAH)`?

Kukho iintlobo ezimbini eziphambili ze-CAH. Ezi ntlobo zimbini zibangela i-95% yamatyala.

1. I-CAH yakudala: Olu lolona hlobo lwe-CAH lunzima kwaye lunzima . Lunokubangela iingxaki ezinkulu ezibandakanya amadlala e-adrenal, njengothuko kunye ne-coma. Lunokuba yingozi ebomini ukuba alufunyaniswa kwaye lunyangwe kwangethuba. Le meko yakudala ye-CAH idla ngokufunyaniswa kwasekuzalweni.

Oku kukwaneentlobo ezimbini ezahlukeneyo:

• I-CAH echitha ityuwa: Yile nto ikwi-(CAH)Eyona ndlela inzima kakhulu . Kule meko, ii-adrenal glands zivelisa i-aldosterone, esezantsi kakhulu. Xa i-aldosterone ilahlekile, umzimba awukwazi ukulawula inqanaba letyuwa (i-sodium) egazini. Oku kubangela ukuba i-sodium egqithisileyo ikhutshwe kumchamo. Ukongeza, i-cortisol nayo iveliswa kancinci, kodwa ii-androgens ziveliswa ngakumbi.
• I-CAH elula-evuselelayo: Olu luhlobo oluthambileyo lwe-CAH . Kule meko, ukunqongophala kwe-aldosterone akukubi kangako. Ke ngoko, akukho zimpawu zisongela ubomi. Nangona kunjalo, kukho ukuveliswa okuncinci kwe-cortisol kunye nokuveliswa kwe-androgen eninzi. Olu kuveliswa kwe-androgen engaphezulu lunokubangela iimpawu ezinxulumene nophuhliso lwesondo.

2. I-CAH engaqhelekanga: Olu lolona hlobo lulula lwe-CAH. Idla ngokubonakala ebuntwaneni, ebusheni, okanye ebudaleni. Iimpawu zisenokuba khona okanye zingabikho. Oku kunokubangelwa kukuveliswa kwe-androgen eninzi, okunokukhokelela kwiimpawu ezinxulumene nophuhliso lwesondo.

Ukongeza kwezi ntlobo ziphambili, kukho nezinye iintlobo ezininzi ezingaqhelekanga ze-CAH, nganye ineempawu ezahlukeneyo.

Ngubani onokufumana i-CAH? Ixhaphake kangakanani?

Le meko ibizwa ngokuba yi-``(CAH)`` inokukhula nakubani na. Oko kuthetha ukuba inokuchaphazela iintsana, abantwana, abantu abadala, nabani na.

Kumazwe afana neMelika neYurophu, i-CAH yakudala ichaphazela malunga nomntu omnye kwishumi lamawaka ukuya kwishumi elinesihlanu lamawaka. I-CAH engeyiyo yakudala ayixhaphakanga kangako, ichaphazela malunga nomntu omnye kwikhulu ukuya kumakhulu amabini. Zombini ezi ntlobo zifumaneka kwihlabathi liphela.

Zithini iimpawu ze-`(CAH)`?

Iimpawu ze-CAH zinokwahluka ngokuxhomekeke kuhlobo kunye nesini. Umzekelo, abanye abantwana bazalwa beneempawu, ngelixa abanye beba neempawu njengoko bekhula.

Iimpawu zeClassic CAH

Kwi-CAH yakudala, amanqanaba e-androgen aphezulu kakhulu. Oku kunokubangela iimpawu ezinxulumene neehomoni zesini. I-CAH echitha ityuwa kunye ne-CAH elula evelisa i-viral inokubangela iimpawu ezifana nezi:

• Izitho zangasese ezingacacanga kwiintsana ezingamantombazana: Oku kuthetha ukuba izitho zangasese zangaphandle zomntwana zinokufana nezomntwana wenkwenkwe. Nangona kunjalo, izitho zangasese zangaphakathi zomfazi (ezifana namaqanda kunye nesibeleko) ziqhelekile.
• Ipenisi ekhulisiweyo kwiintsana ezingamaduna.
• Iimpawu zokufikisa ngaphambi kwexesha: Umzekelo, utshintsho kwilizwi, amaqhakuva aqatha, kunye nokukhula kweenwele kwangethuba emakhwapheni, kwiindawo zangasese, nasebusweni.
• Ukuvela kweempawu zobudoda kumantombazana: uphuhliso lwemisipha, ukujula kwelizwi, kunye nokukhula kweenwele zobuso ezingafunekiyo.
• Ukukhula ngokukhawuleza kakhulu (kwizigaba zokuqala).
• Umjikelo wokuya exesheni ongaqhelekanga.
• Izimila zamasende ezingenobungozi.
• Ukungazali.

Ukongeza, ingakumbi kubantu abane -CAH echitha ityuwa , ukungalingani kwamahomoni kunokubangela iimpawu ezinzulu ze-adrenal. Ezi ziyingozi kakhulu kwaye zifuna unyango olukhawulezileyo :

• Ukuphelelwa ngamanzi emzimbeni.
• Ukwehla kwamanqanaba e-sodium egazini (i-Hyponatremia).
• Uxinzelelo lwegazi oluphantsi (iHypotension).
• Ukubetha kwentliziyo okungaqhelekanga (i-Arrhythmia).
• Amanqanaba aphantsi eswekile egazini (iHypoglycemia).
• Ukwanda kwe-asidi egazini (i-Metabolic acidosis).
• Ukuhlanza.
• Urhudo.
• Ukuhla ukusinda.
• Imeko yokothuka `(Ukothuka)`.

Kubalulekile: Ezi mpawu ze-CAH echitha ityuwa, ingakumbi kusana olusandul’ ukuzalwa, zingxamisekile. Ufanele ubone ugqirha ngoko nangoko.

Iimpawu ze-Nonclassic CAH

I-CAH engaqhelekanga yimeko engentle. Usenokungazi nokuba unayo. Iimpawu zihlala zincinci, kodwa zingabandakanya:

• Ukukhula ngokukhawuleza kakhulu (kwizigaba zokuqala).
• I-acne.
• Ukufikisa ngaphambi kwexesha.
• Ukukhula kweenwele ezingafunekiyo ebusweni okanye emzimbeni wabasetyhini.
• Umjikelo wokuya exesheni ongaqhelekanga.
• Ukungazali.
• Impandla yesitayile samadoda (kwasekuqaleni).
• Iinkunzi zinepenis ezinkulu kodwa amasende amancinci.

Yintoni ebangela `(CAH)`?

Kwiimeko ezininzi, imbangela ephambili ye-CAH kukungabikho okanye ukungabikho kwe-enzyme 21-hydroxylase. Utshintsho lwemfuza luchaphazela amanqanaba ale enzyme. Amaxesha amaninzi, ukungabikho kwe-enzyme 11-hydroxylase kunokubangela i-CAH.

I-CAH sisifo sokurhuda kwe-autosomal . Uyazi ukuba kuthetha ukuthini oko? Sifumana iikopi ezimbini zejini nganye - enye evela kumama wethu kunye nenye evela kutata wethu. I-CAH yenzeka kuphela xa umntwana efumana ikopi yejini ebangela ukungabikho kwe-enzyme kubazali bobabini. Ukuba umntu unejini enye eguqukileyo, unokuba ngumthwali wesifo kodwa angabonakalisi zimpawu.

Oogqirha bayixilonga njani (bayixilonga njani) imeko `(CAH)`?

I-CAH yakudala

Ngaphambi kokuba umntwana wakho abuyele ekhaya evela esibhedlele, oogqirha baza kumjonga umntwana ukuba akanayo na i-``(CAH)''. Oku kuqhelekile.Njengenxalenye yovavanyo lokuhlolwa kosana olusandul’ ukuzalwa, oku kwenziwa ngokuthatha ithontsi elincinci legazi esithendeni somntwana. Oku kungabonisa ukuba une-CAH yakudala.

Ukuba ukhulelwe kwaye sele unomntwana one-CAH, ungenza uvavanyo lwemfuza ngaphambi kokukhulelwa . Ugqirha wakho angenza i-amniocentesis (uvavanyo lolwelo olusesibelekweni sakho) okanye isampuli ye-chorionic villus (uvavanyo lwenxalenye ye-placenta) ukuze abone ukuba unayo na i-CAH.

I-CAH engaqhelekanga

I-Nonclassic CAH idla ngokufunyaniswa emva kokuba wena okanye umntwana wakho eqale ukubonisa iimpawu. Ngamanye amaxesha, inokwenzeka nasebudaleni. Ugqirha wakho uya kwenza oku kulandelayo ukuze afunyanise imeko:

• Uvavanyo lomzimba.
• Uvavanyo lwegazi.
• Uvavanyo lomchamo.
• Uvavanyo lwemfuza.

Iphathwa njani i-CAH?

Unyango lwe-CAH luxhomekeke kuhlobo kunye nobukhali beempawu. Akukho nyango lwe-CAH. Nangona kunjalo, amayeza kunye nolunye unyango lunokunceda ukulawula iimpawu kunye nokuphila ubomi obusempilweni.

Unyango lwe-CAH oluqhelekileyo

Ugqirha wakho uza kujonga imeko yakho rhoqo. Baza kwenza uvavanyo lwegazi rhoqo ukujonga amanqanaba ehomoni yakho. Injongo ephambili yonyango kukuqinisekisa ukukhula okuqhelekileyo kunye nophuhliso lwesondo.

Ugqirha wakho angakunika amayeza anjengala ukunyanga iimpawu zakho:

• Izongezo zetyuwa: Iintsana ezisandul’ ukuzalwa zinokufuna izongezo zesodium chloride (ingakumbi iifomyula ezichitha ityuwa).
• IiGlucocorticoids: Ezi zisebenza ngokutshintsha ihomoni i-cortisol, engaveliswa ngumzimba. Kusenokufuneka wonyuse umthamo wale mayeza xa ugula, ulusizi, okanye uxinezelekile.
• Iimineralocorticoids: Ezi zisetyenziselwa ukuthatha indawo yehomoni i-aldosterone, engaveliswanga emzimbeni.

Ukuba une-Classic CAH, kufuneka usele la mayeza yonke imihla ubomi bakho bonke. Ukuba uyeka ukuwasela la mayeza, iimpawu zakho ziya kubuya.

Olunye unyango lutyando lweentsana ezingamantombazana ezinezitho zangasese ezingacacanga. Olu tyando lunokwenziwa phakathi kweenyanga ezimbini ukuya kwezintandathu emva kokuzalwa ukuze kubuyiselwe ukubonakala nokusebenza kwezitho zangasese zangaphandle. Kwezinye iimeko, utyando lunokulibaziseka iminyaka eliqela. Oku kufuneka kuxoxwe ngononophelo nogqirha wakho ngaphambi kokuba wenze isigqibo.

Unyango lwe-CAH olungelulo oluqhelekileyo

Ukuba awunazo iimpawu, usenokungadingi unyango. Ukuba uneempawu ezincinci, unganikwa iidosi eziphantsi ze-glucocorticoids. Aba bantu abadli ngokufuna unyango lobomi bonke.

Ukuba wena okanye umntwana wakho une-CAH, kubalulekile ukufuna unyango lwempilo yengqondo. Oku kungenxa yokuba iingxaki ezininzi ezihambisana nale meko (ezifana notshintsho lomzimba, ukungazali, njl.njl.) zinokuba nefuthe engqondweni. Ke ngoko, inkxaso yempilo yengqondo yinxalenye ebalulekileyo yonyango lwe-CAH. Ingaphucula umgangatho wobomi.

Ziziphi iingxaki ezinokubakho ze-CAH?

Kwi-CAH yakudala, ingakumbi uhlobo oluchitha ityuwa, amanzi agqithisileyo kunye netyuwa ziyalahleka kumchamo. Oku kunokukhokelela kwiingxaki ezinkulu ezifana nokungalingani kwe-electrolyte (umz. i-potassium) . Ukuba ayinyangwa, oku kungalingani kunokubangela:

• Ukubetha kwentliziyo okungaqhelekanga (i-Arrhythmia).
• Ukubanjwa kwe-cardiac.
• Nokufa kunokwenzeka.

Ukunganyangwa kwe-CAH engeyiyo iklasikhi nako kunokubangela iingxaki. Kumadoda:

• Ukufikisa kwasekuqaleni.
• Ubufutshane bomzimba (ukuncipha kobude).

Kwabasetyhini:

• Iimpawu zomzimba wendoda ezihlala zihleli.
• Ukuya exesheni okungaqhelekanga.
• Ukungazali.

Kukwakho nomngcipheko weengxaki ezithile (ezifana nokosuleleka, ukopha, kunye nokuqhekeka) ngenxa yotyando olwenziwe kwizitho zangasese ezingacacanga.

Ngaba `(CAH)` ingathintelwa?

Ngenxa yokuba i-CAH yimeko yemfuza, ayinakuthintelwa. Ukuba kukho umntu kusapho lwakho one-CAH, okanye ukuba sele unomntwana one-CAH, cinga ngengcebiso yemfuza kunye/okanye uvavanyo lwemfuza . Oku kuya kukunceda uqonde umngcipheko wokuba abantwana bakho bafumane esi sifo njengelifa.

Injani imeko emva konyango lwe-`(CAH)`?

Ukuba baxilongiwe kwangethuba baze banyangwe ngokufanelekileyo, abantu abane-CAH banokuphila ubomi obusempilweni nobunempumelelo. Abantu abane-Classic CAH kuya kufuneka bathathe amayeza yonke imihla ubomi babo bonke. Iimpawu zinokubuya ukuba amayeza ayekiswa.

Uninzi lwabantu abane-CAH basempilweni entle, kodwa banokuba bafutshane kunabanye abantu abadala. Kwezinye iimeko, i-CAH inokuchaphazela ukuzala. Ukuba wazalwa une-genitalia engacacanga, unokufuna inkxaso yengqondo. Ukuba uneengxaki emva konyango, ungoyiki ukuthetha nogqirha wakho.

Ungayinciphisa njani umzimba nge-`(CAH)`?

Amanye amayeza asetyenziswa ukunyanga i-CAH (ingakumbi i-glucocorticoids) anokubangela ukutyeba. Thetha nogqirha wakho malunga nobunzima bakho. Uyakwazi ukufumanisa ukuba ukutyeba kubangelwa liyeza okanye yimeko ethile yempilo. Umlinganiselo wakho wamayeza unokufuna ukulungiswa. Unokukunceda uphuhlise isicwangciso sokutya kunye nokuzilolonga ukuze akuncede ugcine ubunzima obusempilweni.

Ingaba `(CAH)` lukhubazeko?

Eminye imibutho isenokuthatha izifo ze-adrenal gland njengokukhubazeka. Ukuba i-CAH iyafaneleka na njengokukhubazeka kuxhomekeka kwiingxaki ezivela kweso sifo.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba umntwana wakho unesifo semfuza. Nangona kunjalo, abantwana abazelwe beneCongenital Adrenal Hyperplasia (CAH) banekamva elingcono ukuba esi sifo sichongiwe kwangethuba kwaye sinyangwa ngokufanelekileyo.

Khumbula ezi zinto:

• (CAH) yimeko yemfuza echaphazela ukuveliswa kweehomoni kwi-adrenal glands.
• Uhlobo lweClassic CAH lolona hlobo lunzima kakhulu kwaye lunokubonwa ngokuhlolwa kosana olusandul’ ukuzalwa.
• Ukuxilongwa kwangoko kunye namayeza obomi bonke (kwi-CAH yakudala) kubaluleke kakhulu.
• Unyango lunokulawula iimpawu kwaye luvumele ukukhula okuqhelekileyo kunye nophuhliso.
• Abanye abantu banokufuna inkxaso kunye neengcebiso ngempilo yengqondo.
• Ukuba uceba ukukhulelwa kwaye unembali yentsapho ye-CAH, thetha nogqirha wakho malunga neengcebiso zemfuza.

Ungakhathazeki, awuwedwa. Ukuba uneminye imibuzo malunga ne-`(CAH)`, buza ugqirha wakho. Banokukunceda.

I- Congenital Adrenal Hyperplasia, i-CAH, ii-Adrenal glands, i-Cortisol, i-Aldosterone, i-Androgen, ukungalingani kweehomoni, ukuphazamiseka kwemfuza, ukuhlolwa kweentsana ezisandula ukuzalwa, iihomoni, izifo zemfuza, ii-Adrenal glands