Chii chinonzi Congenital Adrenal Hyperplasia? Zviratidzo, Zvinokonzera, & Kurapa

Congenital adrenal hyperplasia (CAH) boka rezvirwere zvinowanikwa nekuzvarwa zvinokanganisa mazamu ako e adrenal. Aya mazamu madiki anogara pamusoro pematombo ako uye anoita mahomoni anoshamisa kuti muviri wako ushande zvakanaka.

Kana uine CAH, mazamu ako e adrenal haakwanisi kugadzira homoni inonzi cortisol. Izvi zvinoitika nekuti muviri wako hauna kana une shoma enzyme inodiwa kugadzira cortisol. Fungidzira ma enzymes sevatambi vaduku mumuviri wako vanobatsira makemikari kuti aite zvakanaka.

Ndeapi zviratidzo zve congenital adrenal hyperplasia?

Zviratidzo zve CAH zvinogona kusiyana zvakanyanya zvichienderana nerudzi rwaunaro uye kuti rakaomarara sei. Vamwe vanhu vanoona zviratidzo mushure mekuberekwa, nepo vamwe vasingawanzoona zviratidzo kusvika vakura.

Aya ndiwo zviratidzo zvakajairika zvaunogona kuona muvana vacheche nevana vaduku:

• Zviberekero zvisina kujeka muvasikana vacheche (zviberekero zvisiri zvemurume kana mukadzi)
• Zviberekero zvakakura muvakomana vacheche
• Kuora mvura kwakanyanya nekurova mumavhiki mashomanana ekutanga ehupenyu
• Sugar ye ropa yakaderera
• Kurasikirwa nemvura yakawanda kuburikidza newee
• Kudya kusina kunaka uye kusakwanisa kuwedzera uremu
• Kusava ne simba kana kurara kwakanyanya

Aya zviratidzo zvepakutanga zvinoitika nekuti muviri wemwana wako uri kurwisana kuchengetedza huwandu hwakanaka hwemunyu, shuga, uye mvura pasina cortisol yakakwana.

Sezvo vana vane CAH vakura, unogona kuona zviratidzo zvakasiyana zvichibudirira:

• Kubva kukura kwakanyanya (dzimwe nguva sezvo vaine makore 2-4)
• Kuwedzera kukura kwakanyanya kunoteverwa nekupfupika kureba
• Kukura kwakanyanya kwebvudzi remunhu
• Acne yakanyanya
• Nguva dzisingawanzoitika kana kusavapo kwekumwedzi muvasikana
• Inzwi rakadzika muvasikana
• Kukura kwemisumbu kunoratidzika kunge kwakakura zvakanyanya pane zera ravo

Vamwe vanhu vane CAH yakapfava isingaratidziki kusvika vakura. Zviratidzo zvevakuru zvinogona kusanganisira matambudziko ekubereka, nguva dzisingawanzoitika, kukura kwakanyanya kwebvudzi, uye acne yakanyanya isingapindure kurapwa kwakajairika.

Ndeapi marudzi e congenital adrenal hyperplasia?

Kune marudzi maviri makuru e CAH, uye kunzwisisa musiyano kunogona kukubatsira kuziva zvaunofanira kutarisira. Rudzi rwaunaro runotsamira pane kuti muviri wako une basa rakawanda sei re enzyme.

Classic CAH ndiyo fomu yakanyanya kuomarara inowanzoonekwa muvana vacheche. Anenge 75% yevanhu vane classic CAH vane zvakare izvo vanachiremba vanoti "salt-wasting," zvinoreva kuti miviri yavo inorasikirwa nemunyu wakawanda uye inogona kuoma mvura zvakanyanya. 25% inosara ine "simple virilizing" classic CAH, uko kusawirirana kwehomoni kunokonzera kubva kukura kwakanyanya uye shanduko dzakasiyana dzekuvandudzika asi kazhinji hakuiti kukonzera kurasikirwa kwemunyu kunouraya.

Non-classic CAH yakapfava zvakanyanya uye kazhinji haikonzere zviratidzo kusvika gare gare muhudiki, ucherechedzo, kana kunyange ukama. Vanhu vane rudzi urwu vanowanzova nebasa rakakwana re enzyme kudzivirira matambudziko akakomba muhucheche, asi vangave vachiri kuona kusawirirana kwehomoni sezvo vakura.

Chii chinokonzera congenital adrenal hyperplasia?

CAH inokonzerwa nekuchinja (mutations) mumajini ako anokanganisa mashandiro ema adrenal glands ako. Iwe unowana aya ma genetic changes kubva kuvabereki vako, ndosaka inonzi "congenital" - zvinoreva kuti iripo kubva pakuzvarwa.

Chikonzero chakajairika chinosanganisira gene inogadzira enzyme inonzi 21-hydroxylase. Anenge 90-95% yevanhu vane CAH vane mutations mune iyi gene chaiyo. Pasina enzyme yakakwana, mazamu ako e adrenal haakwanisi kugadzira cortisol zvakanaka, asi anoramba achiedza nekugadzira zvakawanda zvemamwe mahomoni anonzi androgens.

Zvishoma, CAH inogona kukonzerwa ne mutations mumajini anogadzira mamwe ma enzymes senge 11-beta-hydroxylase, 17-hydroxylase, kana 3-beta-hydroxysteroid dehydrogenase. Imwe neimwe yeiyi inokonzera zviratidzo zvakasiyana zvishoma, asi zvose zvinokanganisa kugadzirwa kwehomoni kwakajairika mu adrenal glands ako.

CAH inotevera izvo geneticists vanoti "autosomal recessive" pattern. Izvi zvinoreva kuti unoda kugamuchira gene yakachinja kubva kuvabereki vese kuti uve nerudzi urwu. Kana ukagamuchira gene imwe chete yakachinja, uri "carrier" asi kazhinji hauzove nezviratidzo iwe pachako.

Rini unofanira kuona chiremba nekuda kwe congenital adrenal hyperplasia?

Unofanira kutsvaga rubatsiro rwekurapa nekukurumidza kana ukaona zviratidzo zvekutyisidzira, kunyanya muvana vacheche nevana vaduku. Aya zviratidzo zvinogona kuratidza dambudziko rakakomba rehomoni rinoda kurapwa kwekukurumidza.

Fonera chiremba wako nekukurumidza kana ukaona kurutsa, kuoma mvura kwakanyanya, kusava nesimba kwakanyanya, kana zviratidzo zve sugar ye ropa yakaderera mumwana mutsva. Izvi zvinogona kuva zviratidzo zve salt-wasting crisis, izvo zvinogona kuuraya kana zvisina kurapwa nekukurumidza.

Unofanirawo kubata nehutano hwako kana ukaona zviratidzo zve puberty yekutanga muvana vaduku, senge kukura kwebvudzi remunhu, kuwedzera kukura kwakanyanya, kana kuchinja kwezviberekero usati wazadza makore 8 muvasikana kana makore 9 muvakomana. Kunyange zvisingakuvadzi nekukurumidza, kurapwa kwekukurumidza kunogona kubatsira kudzivirira matambudziko.

Kune vakuru, funga kuona chiremba kana uine matambudziko ekubereka asinganzwisisiki, nguva dzisingawanzoitika, kukura kwakanyanya kwebvudzi munzvimbo dzisingawanzoitika, kana acne yakanyanya isingavandudzeki nekurapwa kwakajairika. Izvi zvinogona kuva zviratidzo zve non-classic CAH zvisina kuonekwa kare muhupenyu.

Ndeapi njodzi dze congenital adrenal hyperplasia?

Njodzi huru ye CAH ndeyekuve nevabereki vanotakura genetic mutation. Sezvo CAH iri chirwere chinowanikwa nekuzvarwa, nhoroondo yemhuri yako inotamba basa rinokosha mukutsanangura njodzi yako.

Mamwe mapoka evanhu ane huwandu hwakawanda hwe CAH. Vanhu veAshkenazi Jewish, Hispanic, Slavic, kana Italian vanowanzova vanotakura genetic mutations inokonzera CAH. Nekudaro, chirwere ichi chinogona kuitika kune vanhu vechero rudzi.

Kana watova nemunhu mumwe ane CAH, pane mukana we 25% wekuti mwana mumwe nemumwe anotevera achavawo nerudzi urwu. Izvi ndizvo nekuti vabereki vese vanotakura, uye mwana mumwe nemumwe ane mukana weimwe-mu-ina wekugamuchira gene yakachinja kubva kuvabereki vese.

Consanguinity (kuva nevana nemumwe wemhuri) zvakare inowedzera njodzi nekuti vanhu vane hukama vanowanzova vanotakura genetic mutations imwe chete. Nekudaro, vana vazhinji vane CAH vanoberekwa kuvabereki vasina hukama vanongova vanotakura.

Ndeapi matambudziko anogona kuitika e congenital adrenal hyperplasia?

Kunyangwe CAH ichigona kutarisirwa zvakanaka nekurapwa kwakakodzera, zvakakosha kunzwisisa matambudziko anogona kuitika kuitira kuti ugone kushanda nechikwata chako chekurapa kudzivirira. Matambudziko mazhinji anogona kudzivirirwa kana kuderedzwa nekurapwa kwekukurumidza uye kurapwa kwenguva dzose.

Matambudziko akakomba ekutanga anosanganisira:

• Adrenal crisis (kuoma mvura kwakanyanya, kukuvara, uye kusawirirana kwe electrolyte)
• Sugar ye ropa yakaderera zvakanyanya
• Kuora mvura kwakanyanya kunogona kukonzera matambudziko etsinga
• Kukundikana kukura muvana vacheche vasina kurapwa

Aya matambudziko akakomba anowanzoitika kune vanhu vane classic CAH, kunyanya rudzi rwe salt-wasting, uye kazhinji anoitika kana chirwere ichi chisingazivikanwi kana panguva yekumanikidzwa kana chirwere.

Matambudziko ekureba anogona kukanganisa kukura nekuvandudzika:

• Kupfupika kureba kwemunhu mukuru nekuda kwe puberty yekutanga uye kusanganiswa kwekukurumidza kwezvikamu zvekukura
• Matambudziko ekubereka muvarume nevakadzi
• Nguva dzisingawanzoitika kana kusavapo kwenyaya
• Matambudziko epfungwa ane chekuita nezviberekero zvisina kujeka kana hunhu hwemurume kana mukadzi
• Njodzi yakawedzera ye osteoporosis kubva kurapwa kwenguva refu kwe steroid
• Njodzi yakawedzera yehuwandu hwakawanda uye matambudziko e metabolic

Nekurapa kwakakodzera uye hormone replacement therapy, vanhu vazhinji vane CAH vanogona kurarama hupenyu hwakajairika, hune hutano uye kudzivirira aya matambudziko. Kuongororwa nguva dzose uye kugadziriswa kwemishonga kunobatsira kuderedza njodzi nepo kuchengetedza hupenyu hwakanaka.

Congenital adrenal hyperplasia inogona kudzivirirwa sei?

Sezvo CAH iri chirwere chinowanikwa nekuzvarwa, haugone kudzivirira kuti chiitike kana ukagamuchira majini kubva kuvabereki vese. Nekudaro, genetic counseling uye kuongororwa kunogona kukubatsira kunzwisisa njodzi dzako uye kuita sarudzo dzakachenjera dzekuronga mhuri.

Kana uine nhoroondo yemhuri ye CAH kana uri kubva muchikwata chevanhu vane njodzi yakawanda, genetic counseling inogona kukubatsira kunzwisisa kana uri carrier. Carrier testing inosanganisira bvunzo yeropa iri nyore inogona kuona kana uine kopi imwe chete ye gene yakachinja.

Kana vese vakaroorana vari vanotakura, une sarudzo dzakawanda dzekufunga. Kuongororwa kwepakutanga panguva yekuzvitakura kunogona kuona CAH mumwana ari kukura. Vamwe vakaroorana vanosarudza in vitro fertilization ne genetic testing ye embryos (inodaidzwa kuti preimplantation genetic diagnosis) kusarudza embryos isina chirwere ichi.

Kune mhuri ine nhoroondo ye CAH, kuongororwa kwekukurumidza kwemwana mutsva kwakakosha. Nyika dzakawanda zvino dzinosanganisira CAH mune dzadzo dzekuongorora vana vacheche, izvo zvinogona kubata chirwere ichi usati waona zviratidzo uye kubvumira kurapwa kwekukurumidza.

Congenital adrenal hyperplasia inoongororwa sei?

Kuongorora CAH kazhinji kunosanganisira bvunzo yeropa inoyerera mahomoni, uye nguva yebvunzo idzi inotsamira pane nguva yekuratidzwa kwezviratidzo. Nyaya dzakawanda zvino dzinobatiwa kuburikidza nekuongorora vana vacheche usati waona zviratidzo.

Kuongorora vana vacheche kunosanganisira kutora sampuli yeropa diki kubva pahuro yemwana wako mukati memavhiki mashomanana ekutanga ehupenyu. Bvunzo inoyerera mahomoni anonzi 17-hydroxyprogesterone, iyo kazhinji inowedzera muvana vane CAH.

Kana bvunzo yekuongorora isina kunaka, chiremba wako achaodza bvunzo yakawanda yeropa kuti aone chirwere ichi. Aya ma confirmatory tests anoyerera mahomoni mazhinji anosanganisira cortisol, aldosterone, uye androgens akasiyana kuti aone kuti mwana wako ane rudzi rwei CAH.

Kune vana vakura nevakuru, kuongororwa kazhinji kunotanga kana zviratidzo zvaonekwa. Chiremba wako angaodza bvunzo dzakafanana dzehomoni, kazhinji inoitirwa mangwanani apo cortisol levels inowanzova yakakwira. Dzimwe nguva bvunzo yekukurudzira inodiwa, uko iwe unowana jekiseni re synthetic ACTH (homoni inokurudzira adrenal glands) uye wobva waoma ropa rako kuti uone kuti adrenal yako inopindura sei.

Muimwe nguva, genetic testing inogona kuona mutations chaiyo inokonzera CAH. Ruzivo urwu runogona kubatsira pakuronga mhuri uye kuona rudzi rwakakwana re enzyme deficiency raunaro.

Kurapa kwe congenital adrenal hyperplasia chii?

Kurapa kwe CAH kunotarisa pakutsiva mahomoni ausingakwanisi kugadzira zvakanaka uye kutarisira zviratidzo muhupenyu hwako hwese. Nekurapwa kwenguva dzose, vanhu vazhinji vane CAH vanogona kurarama hupenyu hwakajairika, hune hutano.

Kurapa kukuru kunosanganisira kutora mishonga ye corticosteroid kutsiva cortisol yausingagadzire. Vanhu vazhinji vanotora hydrocortisone, iyo yakafanana ne cortisol inogadzirwa nemuviri wako. Iwe unowanzo tora mushonga uyu kaviri kusvika katatu pazuva, nehuwandu hwakawanda panguva yechirwere kana kumanikidzwa.

Kana uine salt-wasting type ye CAH, iwe uchadawo mushonga unonzi fludrocortisone kubatsira itsinga dzako kuchengetedza munyu uye kuchengetedza huwandu hwakanaka hwemvura. Vanhu vazhinji vanodawo munyu wakawanda mune zvekudya zvavo, kunyanya panguva yekunaya kana kurovedza muviri.

Kune vanhu vane ambiguous genitalia, kugadziriswa kwekutsiva kunogona kukurudzirwa. Aya mafungiro akaoma uye anofanira kusanganisira boka revanachiremba vanosanganisira pediatric endocrinologists, urologists, uye psychologists. Nguva uye rudzi rwekutsiva zvinosiyana zvichienderana nemamiriro ezvinhu emumwe munhu uye zvido zvemhuri.

Kurapa kazhinji kunoda kugadziriswa sezvo iwe ukakura uye zvido zvemuviri wako zvichichinja. Vana vangada kuwedzera huwandu sezvo vakura, uye vakadzi vangada kugadziriswa panguva yekuzvitakura. Kuongororwa nguva dzose ne bvunzo yeropa kunobatsira chiremba wako kugadzirisa kurapwa kwako.

Nzira yekutarisira congenital adrenal hyperplasia pamba?

Kutarisira CAH pamba kunosanganisira kuvandudza tsika dzakanaka pamusoro pemishonga, kutarisira kumanikidzwa, uye kuziva rini unofanira kutsvaga kurapwa kuwedzerwa. Neruzivo rwakakodzera, unogona kuchengetedza hutano hwakanaka uye kudzivirira matambudziko.

Kutora mishonga yako nguva dzose ndicho chikamu chakakosha chekutarisira pamba. Gadzira tsika yezuva nezuva inokurudzira kurangarira zvikamu zvako, senge kutora nezvokudya kana kushandisa mudziyo wemishonga. Usambofa wakasiya zvikamu kana kumisa kutora mishonga yako usati wataura nachiremba wako.

Panguva yechirwere, kukuvara, kana kumanikidzwa kukuru, muviri wako unoda cortisol yakawanda. Chiremba wako achakudzidzisa kuti uwane sei huwandu hwemishonga panguva idzi. Chengetedza chirongwa chekuita chinonyora kuti ungatorei mushonga wakawanda uye rini unofanira kubata nechikwata chako chekurapa.

Nguva dzose chengetedza zvinhu zvinoratidza kuti une CAH uye unonyora mishonga yako. Mukukurumidza, ruzivo urwu runogona kuponesa upenyu. Funga kupfeka bhureki rekunyevera kana kuchengetedza kadhi rekuvimbisa muhomwe yako.

Cherechedza zviratidzo zvemuviri wako uye dzidza kuziva zviratidzo zvinogona kuratidza kuti unoda rubatsiro rwekurapa. Izvi zvinosanganisira kurutsa kwenguva refu, kusava nesimba kwakanyanya, kuzvidza, kana chero zviratidzo zvinoita sekusina kujairika kwauri.

Ungagadzirira sei kuenda kuchiremba?

Kuagadzirira misangano yako ye CAH kunogona kukubatsira kuti uwane zvakawanda kubva pakushanya kwako uye kuve nechokwadi chekuti chiremba wako ane ruzivo rwakakwana rinodiwa kupa kurapa kwakanaka. Kugadzirira kwakanaka kunoita kuti aya misangano ive yakakurumidza uye inobatsira.

Chengetedza dhayari yezviratidzo pakati pemisangano, uchicherechedza chero zviratidzo zvisingawanzoitika, zvinokonzerwa nemishonga, kana nguva yaunoda kuwedzera zvikamu zvako nekuda kwechirwere kana kumanikidzwa. Ruzivo urwu runobatsira chiremba wako kunzwisisa kuti kurapwa kwako kwazvino kuri kushanda zvakanaka sei.

Uya ne rondedzero yakazara yemishonga yese yaunotora, kusanganisira zvikamu chaizvo uye nguva. Zvakare sanganisira mishonga yese ye over-the-counter, zvinowedzerwa, kana zvinhu zvechisikigo, sezvo izvi dzimwe nguva zvinogona kukanganisa mishonga yako ye CAH.

Nyora chero mibvunzo kana zvinokunetsa zvaunazvo usati wasangana nachiremba. Nyaya dzinowanzoitika dzinogona kusanganisira kugadzirisa zvikamu, kutarisira zvinokonzerwa nemishonga, kuronga rwendo kana zviitiko zvakakosha, kana zvinokunetsa pamusoro pekukura nekuvandudzika muvana.

Kune vana vane CAH, uya nemagrafu ekukura uye ruzivo rwekushanda kuchikoro kana uine zvinokunetsa pamusoro pekuvandudzika. Chiremba wako achatsvaga kuongorora kukura kwemuviri uye zviitiko zvekuvandudzika pedyo.

Chii chinonyanya kukosha pamusoro pe congenital adrenal hyperplasia?

Chinhu chakakosha kunzwisisa pamusoro pe CAH ndechekuti kunyangwe iri chirwere chehupenyu hwese, chinogona kutarisirwa zvakanaka nekurapwa kwakakodzera uye kurapwa. Vanhu vazhinji vane CAH vanogona kurarama hupenyu hwakajairika zvachose kana vakatora mishonga yavo nguva dzose uye vakashanda pedyo nechikwata chavo chekurapa.

Kuongororwa kwekukurumidza uye kurapwa kunoita musiyano mukuru mumagumisiro. Nekuda kwekuongorora vana vacheche, nyaya dzakawanda zvino dzinobatiwa usati waona matambudziko akakomba. Kuonekwa kwekukurumidza uku kunobvumira kurapwa kwekukurumidza uye kudzivirira matambudziko mazhinji akakomba anogona kuitika kana CAH isina kuonekwa.

Kiyi yekutarisira kwakabudirira ndeyekunzwisisa chirwere chako, kutora mishonga sezvakarayirwa, uye kuziva rini unofanira kutsvaga kurapwa kuwedzerwa. Nezvinhu izvi zviripo, unogona kutarisira kurarama hupenyu hune hutano, hunogutsa kunyangwe uine CAH.

Yeuka kuti CAH inokanganisa munhu wese zvakasiyana, uye chirongwa chako chekurapa chinofanira kugadzirirwa zvido zvako. Kutaurirana nguva dzose nechikwata chako chekurapa kunoita kuti kurapwa kwako kuramba kuchishanda sezvinodiwa nemuviri wako zvichichinja nekufamba kwenguva.

Mibvunzo inowanzo bvunzwa pamusoro pe congenital adrenal hyperplasia

Vanhu vane CAH vanogona kuva nevana here?

Hungu, vanhu vazhinji vane CAH vanogona kuva nevana, kunyange zvazvo kubereka kungakanganiswa mune dzimwe nguva. Vakadzi vane CAH vangave vane nguva dzisingawanzoitika kana vachida kurapwa kuti vavandudze kubereka. Varume vane CAH kazhinji vane kubereka kwakajairika. Kushanda nerudo endocrinologist kunogona kubatsira kana uri kunetseka kuita mwana.

Mishonga ye CAH inokonzera kuwedzera uremu here?

Vamwe vanhu vanoona kuwedzera uremu nekurapwa kwe corticosteroid, asi izvi hazvisi zvechokwadi. Kiyi ndeyekuwana huwandu hwakakodzera hunotsiva zvinodiwa nemuviri wako pasina kukupa zvakawanda. Kurovedza muviri nguva dzose, kudya kwakanaka, uye kushanda nachiremba wako kuti uwedzere zvikamu zvako kunogona kubatsira kutarisira zvinokunetsa zveuremu.

Mishonga ye CAH inogona kumirira kana zviratidzo zvikavandudzwa here?

Kwete, mishonga ye CAH haifanire kumirira kunyangwe uchifara. Aya mishonga inotsiva mahomoni ausingakwanisi kugadzira iwe pachako, saka kumisa kunogona kukonzera matambudziko akakomba anosanganisira adrenal crisis. Nguva dzose taura nachiremba wako usati waita chero shanduko mune chirongwa chako chemishonga.

Kumanikidzwa kunokanganisa sei CAH?

Kumanikidzwa kwemuviri nepfungwa kunowedzera zvinodiwa nemuviri wako zve cortisol. Sezvo vanhu vane CAH vasingakwanisi kugadzira cortisol yakawanda zvakasikwa, ungada kuwedzera zvikamu zvako zve mushonga panguva dzekumanikidzwa senge chirwere, kuvhiya, kana zviitiko zvakakosha muhupenyu. Chiremba wako achakudzidzisa kuti ugadzirise sei zvikamu zvako zvakakodzera.

CAH yakajairika here mumhuri dzakati kana mapoka evanhu?

Hungu, CAH yakajairika mune mamwe mapoka evanhu anosanganisira vanhu veAshkenazi Jewish, Hispanic, Slavic, neItalian. Nekudaro, inogona kuitika kune chero rudzi. Kana uine nhoroondo yemhuri ye CAH kana uri kubva muchikwata chine njodzi yakawanda, genetic counseling inogona kukubatsira kunzwisisa njodzi dzako uye sarudzo.