Ingaba yingxaki yehomoni? Masifunde ngeCongenital Adrenal Hyperplasia (CAH) ngokulula

Ngaba ukhe waphawula naluphi na utshintsho okanye inkxalabo malunga nokubonakala kwamalungu esini entombi yakho esandul’ ukuzalwa? Okanye ngaba inkwenkwana yakho iqala ukubonisa iimpawu zokufikisa ngaphambi komhla wokuzalwa kwayo? Mhlawumbi umntwana wakho uyahlanza, uqumbile, okanye udiniwe nje? Namhlanje siza kuthetha ngemeko yemfuza enokubangela ezi zinto. Siyibiza ngokuba yiCongenital Adrenal Hyperplasia, okanye yiCAH ngamafutshane. Ungakhathazeki, igama lisenokuvakala liyinkimbinkimbi kancinci, kodwa masiligcine lilula.

Ithetha ukuthini i-CAH nje?

Kulungile, masiqale sijonge ukuba yintoni i-CAH. Sonke sinee-glands ezimbini, njengezigqoko ezincinci, ngaphezu kwezintso zethu. Ezi zizinto esizibiza ngokuba zii-adrenal glands. Ezi glands zimbini zincinci zivelisa ii-hormone ezininzi ezibalulekileyo ekusebenzeni kwemizimba yethu.

• I-Cortisol: Le yeyona hormone iphambili yoxinzelelo emzimbeni wethu. Ilungiselela umzimba ukuba ujongane nokugula, ingozi, kunye noxinzelelo. Ikwanceda ekulawuleni uxinzelelo lwegazi, amanqanaba amandla, kunye namanqanaba eswekile egazini.
• I-Aldosterone: Le hormone inceda ukugcina ibhalansi efanelekileyo yetyuwa (isodium) kunye namanzi emizimbeni yethu, ngaloo ndlela ilawula uxinzelelo lwegazi kunye nomthamo wegazi.
• IiAndrogens: Ezi ziihormone zesini zamadoda. I-Testosterone yenye yezo hormone. Ezi hormone zibaluleke kakhulu ekuqaleni kokufikisa, ukukhula okuqhelekileyo kunye nophuhliso.

Ngoku, okwenzekayo kumntu one-CAH kukuba i-enzyme ethile efunekayo ukuvelisa ezi hormone ayikho okanye iyancipha emzimbeni. Njengokuba nje isinongo singekho kwisitya, incasa yesitya iyatshintsha, xa le enzyme ingekho, amadlala e-adrenal awakwazi ukuvelisa ezi hormone ngokufanelekileyo.

Ngoko ke kwenzeka ntoni?

• Mhlawumbi i-hormone i-cortisol ayiveliswa kangangoko kuyimfuneko.
• Mhlawumbi i-hormone i-aldosterone ayiveliswa kangangoko kuyimfuneko.
• Kunoko, iihomoni zamadoda ezibizwa ngokuba zii-androgens ziqala ukuveliswa ngokugqithisileyo .

Oku kungalingani kwamahomoni yimbangela yazo zonke iingxaki ezivela kwi-CAH.

Ngaba kukho iintlobo eziphambili ze-CAH?

Ewe, kukho iintlobo ezimbini eziphambili ze-CAH. Ama-95% ezigulana ezifunyaniswe ukuba zine-HIV ziwela kwezi ntlobo zimbini.

1. I-CAH yakudala: Olu lolona hlobo lwe-CAH lunzima kwaye lunzima. Luhlala luchongwa xa luzalwa. Ukuba alunyangwanga kakuhle, lunokukhokelela kwi-shock, i-coma, kwanokufa. Ke ngoko, kubaluleke kakhulu ukuyichonga nokunyanga le meko kwangethuba.Kukho iintlobo ezimbini ezincinci zale hlobo.

• I-CAH echitha ityuwa: Olu lolona hlobo lunzima lwe-CAH. Kule meko, i-hormone i-aldosterone iveliswa ngamanani aphantsi kakhulu. Oku kubangela ukuba umzimba ungakwazi ukulawula amanqanaba ayo etyuwa (i-sodium). Ngenxa yoko, ityuwa egqithisileyo ikhutshwa kumchamo. Kwangaxeshanye, i-hormone i-cortisol nayo iyancitshiswa, kwaye i-hormone i-androgen iveliswa ngokugqithisileyo.
• I-CAH elula ekhupha ityuwa (uhlobo oluqhelekileyo): Le yimeko engathandekiyo kangako. Apha, ukungabikho kwehomoni ye-aldosterone akukubi kangako. Ke ngoko, iimpawu ezisongela ubomi azibonakali. Nangona kunjalo, ihomoni ye-cortisol isesezantsi kwaye ihomoni ye-androgen iphezulu. Oku kubangela iingxaki ezinxulumene nophuhliso lwesondo.

2. I-CAH engaqhelekanga: Olu lolona hlobo lulula lwe-CAH. Idla ngokufunyaniswa xa umntwana efikisa, ebuntwaneni, okanye ebudaleni. Abanye abantu basenokungabi nazo iimpawu kwaphela. Nalapha, ezinye iimpawu ezinxulumene nokukhula ngokwesondo zinokwenzeka ngenxa yokuveliswa kakhulu kwee-hormone ze-androgen.

Ziziphi iimpawu ezinokubakho ze-CAH?

Iimpawu ze-CAH zinokwahluka ngokuxhomekeke kuhlobo kunye nesini. Makhe sijonge le theyibhile ingezantsi ukuze sikuqonde kakuhle oku.

Kutheni i-CAH iphuhla? Yintoni unobangela?

Ngamafutshane, i-CAH sisifo esibangelwa lufuzo . Oku kuthetha ukuba yinto esiyizuza njengelifa kubazali bethu. Ayisosifo esosulelayo.

Kuzo zonke iimpawu zomzimba wethu, kukho iijini ezimbini, enye evela kumama wethu nenye evela kubaba wethu. Ukuze i-CAH ivele, umntwana kufuneka azuze ijini enesiphene kumama nakutata wakhe . Le meko ibizwa ngokuba yi-autosomal recessive disorder.

I-CAH idla ngokubangelwa kukunqongophala kwe-enzyme engu-21-hydroxylase. Ibangelwa kukuguquka kwejini okudala le enzyme.

Ufumanisa njani ukuba unayo i-CAH?

I-CAH yakudala (uhlobo oluqatha)

Ezi zezona ndaba zibalaseleyo. Izibhedlele ezininzi eSri Lanka ngoku zibandakanya uvavanyo lokuhlolwa kweClassic CAH phakathi kovavanyo olwenziwa ekuzalweni. Oku kwenziwa emva kweentsuku ezimbalwa umntwana ezelwe, kusetyenziswa ithontsi elincinci legazi elithathwe esithendeni somntwana . Olu vavanyo (ukuhlolwa kosana olusandula ukuzalwa) lunokufumanisa ngokukhawuleza ukuba umntwana uneClassic CAH. Oku kuthetha ukuba unyango lunokuqaliswa ngaphambi kokuba kuvele iimpawu, nto leyo esindisa ubomi bomntwana.

Ukuba usapho olunomntwana osele ene-CAH lulindele omnye umntwana, kunokwenzeka ukuba umntwana avavanywe imeko ngexesha lokukhulelwa. Kukho iimvavanyo ezikhethekileyo zoku, ezifana ne-amniocentesis. Thetha nogqirha wakho ngale nto.

I-CAH engeyiyo yeklasikhi (uhlobo oluthambileyo)

Olu hlobo luthambileyo lunokuba lifutshane ukulibona kuba iimpawu ziyavela kamva. Xa wena okanye umntwana wakho eqala ukuba neempawu ezikhankanyiweyo apha ngasentla, kufuneka nibone ugqirha. Ugqirha uza:

• Kuyenziwa uvavanyo lomzimba.
• Uvavanyo lwegazi kunye novavanyo lomchamo lujonga amanqanaba eehomoni.
• Ngamanye amaxesha uvavanyo lwemfuza lunokuqinisekisa esi sifo.

Zithini iindlela zonyango zoku?

I-CAH ayinakunyangwa ngokupheleleyo. Nangona kunjalo, ngonyango olufanelekileyo, inokulawulwa kakuhle kwaye ungaphila ubomi obuqhelekileyo nobusempilweni . Unyango luxhomekeke kuhlobo lwesifo kunye nobunzima beempawu.

Unyango lwe-Classic CAH

Aba bantu kufuneka bathathe amayeza yonke imihla ubomi babo bonke . Injongo ephambili yonyango kukulinganisela amanqanaba eehomoni ngokubonelela ngeehomoni ezinqongopheleyo emzimbeni. Oku kunceda ukuqinisekisa ukukhula okuqhelekileyo kunye nophuhliso lwesondo.

• Iiglucocorticoids: La mayeza athatha indawo yehomoni ye-cortisol engaveliswa ngumzimba. Umthamo wala mayeza unokufuneka unyuswe xa umntwana enesifo esifana nomkhuhlane, usulelo, okanye ngexesha leemeko ezixinzelelekileyo ezifana notyando.
• Iimineralocorticoids: Ezi zinikwa ukuze zithathe indawo yehomoni i-aldosterone engaveliswanga emzimbeni.
• Izongezo zetyuwa: Iintsana ezisandul’ ukuzalwa ezine-salt-wasting syndrome zinikwa i-sodium chloride ukuze zithathe indawo yetyuwa elahlekileyo emzimbeni.

Olunye unyango lutyando lokulungisa amalungu esini angacacanga kumantombazana. Oku kunokwenziwa phakathi kweenyanga ezi-2 nezi-6 emva kokuba umntwana ezelwe.

Unyango lwe-nonclassic CAH

Abantu abanale meko ilula basenokungadingi naluphi na unyango ukuba abanazo iimpawu. Ukuba baneempawu ezibuthathaka, banokunikwa iidosi eziphantsi ze-glucocorticoids. Aba bantu abasoloko befuna unyango lobomi bonke.

Kuzo naziphi na kwezi meko, ukufuna ingcebiso ngempilo yengqondo ukuze uthethe ngoxinzelelo neengxaki umntwana kunye nabazali abanokuba nazo yinxalenye ebaluleke kakhulu yonyango.

Zeziphi iingxaki ezinokwenzeka ukuba azinyangwa?

Ukuba ayinyangwa, ingakumbi uhlobo lweClassic CAH oluchitha ityuwa, inokuba yingozi kakhulu. Ukulahleka kwetyuwa namanzi amaninzi emzimbeni kunokukhokelela kwiingxaki ezinokuba yingozi nakubomi. Ukuba umntwana uhlanza kakhulu, uqhwalela, okanye akancanci , kufuneka asiwe kwiyunithi yonyango olungxamisekileyo yesibhedlele (ETU) ngoko nangoko.

Yintoni enokwenzeka ukuba ayinyangwa:

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

I-CAH engaqhelekanga inokubangela iingxaki nokuba ayinyangwa. Umzekelo, ukungazali, imijikelo yokuya exesheni engacwangciswanga, kunye neempawu zobudoda ezihlala zihleli kubafazi.