I-Nager Syndrome: Ingabe ingane yakho encane kufanele yazi ngalesi simo esingavamile?

Ngezinye izikhathi uma ubheka umntwana osanda kuzalwa, ubona izinguquko ezincane ebusweni nasezandleni zakhe. Kuvamile ngawe, njengomzali, ukuzizwa ukhathazekile kakhulu uma ubona izinto ezinjengalezi. Namuhla sizokhuluma ngesinye isimo esingavamile kodwa esibalulekile sofuzo okufanele usiqaphele. Leso yi -Nager syndrome .

Iyini ngempela i-Nager syndrome?

Kalula nje, i-Nager syndrome iyisimo esingavamile kakhulu sofuzo . Ibizwa nangokuthi i-acrofacial dysostosis uhlobo 1, uhlobo lwe-Nager . Ingane enalesi simo izalwa inamathambo athile ebusweni, ezandleni nasezingalweni ezingakakhuli kahle. Cabanga ngakho sengathi la mathambo awakhulanga kahle ngesikhathi ingane isesibelethweni.

Ngenxa yalokhu kuntuleka kokukhula kwamathambo, ingane ingase ibe nemiphumela emibi. Isibonelo, ukulahlekelwa ukuzwa kungase kwenzeke ngoba ezinye izingxenye zezindlebe azakhekanga kahle. Ngakho-ke, izinto ezifana nokufunda ukukhuluma zingase zibambezeleke. Kodwa, into ebaluleke kakhulu ukuthi i-Nager syndrome ngokuvamile ayithinti intuthuko yokuqonda kwengane . Okusho ukuthi, akukho nkinga ngobuchopho bengane. Lokhu kuyindaba yenduduzo enkulu kubazali.

Ubani othinteka kakhulu yi-Nager syndrome?

Ngenxa yokuthi lesi yisimo sofuzo , noma ubani angathinteka yilesi simo uma i-gene ethile ku -DNA yomntwana ishintshashintsha ngesikhathi esakhula esibelethweni. Lokhu kusho ukuthi kunzima ukubikezela ukuthi ubani ozoyihlakulela.

Kunezindlela ezimbili eziyinhloko ingane engangena ngazo kulesi simo:

1. Ifa elivela kubazali: Ngezinye izikhathi, ingane ingalithola leli gciwane eliguquliwe kumama noma kuyise.

2. Ukuguquka kwezakhi zofuzo okusha: Yilokhu okwenzeka kaningi. Okusho ukuthi, noma ngabe bobabili abazali abanayo le nkinga yezakhi zofuzo, umntwana uba nalolu guquko lwezakhi zofuzo. Lokhu kuyinto eyenzeka ngokungahleliwe.

Ungachaza okwengeziwe ngokuthi lokhu kuthinta kanjani izakhi zofuzo?

Cabanga ukuthi ingane izuza lesi simo njengefa kubazali bayo.

• Ngezinye izikhathi, noma ngabe umzali oyedwa kuphela one-gene eguquliwe (i-autosomal dominant), ingane ingayithola njengefa. Lokhu kusho ukuthi uma umama noma ubaba ene-gene futhi idluliselwa enganeni, ingane nayo ingase ibe nalesi simo.
• Kwezinye izimo, bobabili abazali bangaba abathwali be-gene eguquliwe (i-autosomal recessive) . I-carrier isho ukuthi abanazo izimpawu, kodwa bane-gene ethintekile ku-DNA yabo. Ngakho-ke, uma bobabili abazali bengabathwali, futhi ingane izuza i-gene eguquliwe kubo bobabili, ingane ingaba ne-Nager syndrome.

Manje ake ucabange ukuthi izingane eziningana emndenini owodwa zine-Nager syndrome, kodwa umama nobaba abanayo. Esimweni esinjalo, kungenzeka ukuthi bobabili abazali bangabathwali, njengoba ngishilo ekuqaleni, futhi i-gene idluliselwa ezinganeni ngendlela ye-autosomal recessive pattern.

Sivame kangakanani lesi simo esibizwa ngokuthi i-Nager syndrome?

Empeleni, i-Nager syndrome iyisimo esingavamile kakhulu . Azikho izibalo eziqondile zokuthi ivame kangakanani. Lokho kusho ukuthi kunzima ukusho ukuthi bangaki abantu emhlabeni abanaso. Kodwa-ke, kunezimo ezingaphezu kwe-100 ezibikiwe ezincwadini zezokwelapha. Ngakho-ke ungacabanga ukuthi singavamile kangakanani. Ngakho-ke, akumangazi ukuthi awukaze uzwe ngaso noma usibone.

Yiziphi izimpawu ezibonakalayo zengane ene-Nager syndrome?

Lesi simo sithinta kakhulu indlela ubuso bengane yakho, izandla, kanye nezingalo zayo ezingaphezulu ezikhula ngayo. Ake sibheke ezinye zezimpawu ezivamile:

Izici ezibonakalayo ebusweni, ezandleni nasezingalweni:

• Umlomo oqhekekile: Lokhu kwenzeka lapho umlomo ongaphezulu ngaphakathi komlomo womntwana ungavaleki kahle.
• Ngokwe-Clinodactyly noma ngokwe-syndactyly: Iminwe ingase ibonakale sengathi igobile kancane, noma eminye yeminwe ingase ibonakale sengathi ihlangene.
• Imifantu ye-palpebral ebheke phansi: Amakhona angaphandle amehlo angase abonakale ehla kancane phansi.
• Umhlathi omncane ongezansi (i-micrognathia): Umhlathi ongezansi ungase ube mncane kunokuvamile. Lokhu ngezinye izikhathi kungabangela ubuso bomntwana bubukeke buhlukile kancane.
• Isithupha esingekho noma esinokukhubazeka: Isithupha singase singabi khona, noma isimo saso singashintshwa.
• Izingalo ezimfushane kanye nobunzima bokujika isandla endololwaneni: Ingalo engalweni (kusukela endololwaneni kuya esihlakaleni) ingase ifinyezwe. Ithambo le-radius elingaphakathi kwesandla nalo lingase lingabi khona. Ububanzi bokunyakaza endololwaneni nalo bungancishiswa.
• Izindlebe ezincane: Ama-earlobes angase abe mancane kunokujwayelekile.
• Amathambo ezihlathi angakakhuli kahle (i-malar hypoplasia): Amathambo ezihlathi awakakhuli ngokuphelele, okungabangela ukuthi izihlathi zibonakale zicwile kancane.

Okubalulekile: Akuzona zonke izingane ezinezimpawu ezifanayo. Ezinye izingane zingase zibe nezimbalwa nje kuphela, kanti ezinye zingase zibe neziningi.

Nakuba kungavamile, ezinye izinkinga zokuzalwa zingavela enhliziyweni yengane, ezinso, ohlelweni lwezitho zangasese kanye nasendleleni yomchamo.

Imiphumela emibi ebangelwa yilokhu:

Ngenxa yokuthi amanye amathambo engane awakhuli kahle ngenxa yokuguquka kwezakhi zofuzo, i-Nager syndrome ingabangela eminye imiphumela emibi eminingana kanye nezimpawu. Lezi yizi:

• Ukulahlekelwa ukuzwa: Njengoba ngishilo ngaphambili, ukulahlekelwa ukuzwa kungabangelwa izinkinga zokukhula ezindlebeni.
• Ukuvaleka komoya: Ingane ingaba nobunzima bokuphefumula, ikakhulukazi ngenxa yomhlathi omncane ongezansi.
• Ubunzima bokudla: Izimo ezifana nomlomo oqhekekile zingenza kube nzima ngengane ukuncela nokugwinya ukudla.
• Ukukhula kwenkulumo okulibazisekile: Ngenxa yokukhubazeka kokuzwa kanye nezinguquko esakhiweni somlomo, ukufunda ukukhuluma kungase kubambezeleke kancane.

Yini ebangela i-Nager syndrome?

Imbangela enkulu yalokhu ukuguquka kwezakhi zofuzo . Ososayensi bathole ukuthi cishe abantu abangu-50% abane-Nager syndrome banalesi simo ngenxa yokuguquka kwezakhi zofuzo okuthiwa i-SF3B4 . Lesi sakhi sofuzo sihilelekile emisebenzini eminingana ebalulekile ehlobene nokukhula nokuhlukana kwamaseli emzimbeni wethu.

Abantu abangu-50% abasele abane-Nager syndrome bazuzwa njengefa ngendlela ye -autosomal recessive . Lokho kusho ukuthi, njengoba ngishilo ngaphambili, bobabili abazali bangabathwali, futhi ingane izuza womabili lawo ma-gene aguquliwe. Kodwa-ke, uma kukhulunywa ngale ndlela (i-autosomal recessive), isikhathi esiningi i-gene ethize eyibangelayo ayikakatholakali . Lokho kusho ukuthi, odokotela bayazi ukuthi iyi-genetic, kodwa i-gene eyimbangela yayo isacwaningwa.

I-Nager syndrome itholakala kanjani?

Ngemva kokuzalwa komntwana, odokotela bazokwenza ukuhlolwa okuphelele ngokomzimba komntwana. Yilapho beqala khona ukubheka noma yiziphi izimpawu zomzimba ezihlobene nalesi simo. Isibonelo, bazobheka ngokucophelela ukuma kobuso bomntwana, ukuma kweminwe ezandleni, kanye nokuma kwezindlebe.

Ngaphezu kwalokho, kungenziwa i-X-ray ukuze kubonwe ukuthi amathambo ebusweni bomntwana, ezandleni nasezingalweni zakhe ezingaphezulu akhule kanjani. Lokhu kungabonisa ngokucacile ukuthi kukhona yini ukuntuleka kokukhula kwamathambo.

Ukuhlolwa kwezakhi zofuzo kungenziwa ukuze kutholakale lesi simo ngokuqinisekile. Lokhu kuhilela ukuthatha isampula encane yegazi esithendeni somntwana bese ulihlaziya elebhu. Lapho, uchwepheshe uhlola noma yiziphi izinguquko ku -DNA yomntwana, ama-chromosome, noma amaprotheni. Lezi zinguquko ziwubufakazi bokuthi lesi simo singokwezakhi zofuzo.

Yiziphi izindlela zokwelapha i-Nager syndrome?

Ukwelashwa kwe-Nager syndrome kuyahlukahluka kuye ngokuthi isimo sibucayi kangakanani.Lokho kusho ukuthi akuzona zonke izingane ezidinga uhlobo olufanayo lokwelashwa. Kodwa-ke, ingane enalesi simo ingadinga ukuhlinzwa okukodwa noma ngaphezulu ukulawula eminye yemiphumela emibi, njengangemva kokuzalwa. Ithemba lalokhu kuhlinzwa ukwenza kube lula ngengane ukwenza izinto ezibalulekile empilweni, njengokuphefumula nokudla.

Izinhlobo ezivame kakhulu zokuhlinzwa ezenziwayo:

• Ukuhlinzwa kwe-Tracheostomy: Lokhu kuhilela ukwenza imbobo encane ngaphambili kwentamo yengane, ku-windpipe (trachea), bese kufakwa ipayipi kuyo. Lokhu kwenza kube lula ngengane ukuphefumula , ikakhulukazi uma indlela yokuphefumula ivinjiwe ngenxa yomhlathi omncane ongezansi.
• I-Gastrostomy: Kule nqubo, kwenziwa imbobo encane esikhumbeni sesisu somntwana bese kufakwa ipayipi lokuncelisa. Lokhu kuvumela umntwana ukuthi athole izakhamzimba azidingayo ukuze aphile , ikakhulukazi uma ulwelwesi oluqhekekile lwenza kube nzima ukuphuza noma ukugwinya.
• I-Tympanostomy: Kule nqubo, kufakwa amapayipi amancane endlebeni yengane. Lokhu kusiza ukuvimbela ukutheleleka kwendlebe futhi kungathuthukisa ukuzwa . Kuye ngokuthi isimo sibucayi kangakanani, izinsiza zokuzwa nazo zingadingeka.
• Ukuhlinzwa kwe-craniofacial: Lokhu kubhekisela ekuhlinzweni kobuso kanye nogebhezi. Kungalungisa ezinye zezinguquko zobuso enganeni, njengomlomo oqhekekile, umhlathi ongakakhuli kahle, kanye namehlo atshekile.

Ezinye izindlela zokwelapha ezisiza ekuphatheni izimpawu

Ukutholwa kusenesikhathi kanye nokwelashwa kwalesi simo kungaholela emiphumeleni engcono kakhulu enganeni yakho. Ngaphezu kokuhlinzwa, kunezinye izindlela zokwelapha eziningana kanye nezinsizakalo ezingasiza ingane yakho ifinyelele amandla ayo aphelele.

• Ukwelashwa ngokomzimba: Lokhu kusiza ingane ukuba ihambe kangcono, isebenzise izingalo zayo, futhi yenze imisebenzi yansuku zonke . Lokhu kubaluleke kakhulu ukwandisa ububanzi bokunyakaza ezingalweni nasemilenzeni, nokuqinisa imisipha.
• Ukwelashwa ngenkulumo: Njengoba ingane ingaba nezinkinga zokuzwa, lokhu kungathinta isikhathi nendlela efunda ngayo ukukhuluma. Ukwelashwa ngenkulumo kusiza ukulungisa lokhu kubambezeleka ekuthuthukisweni kwenkulumo .
• Ukwelashwa kwengqondo: Lokhu akutholakali kuphela enganeni, kodwa nakuwo wonke umndeni . Kunikeza isiqondiso nokusekelwa ukusiza wonke umuntu ukuba abhekane nokucindezeleka nokukhathazeka okuhambisana nokuphila nalesi simo, nokugcina impilo enhle yengqondo .
• Ukwelulekwa ngezofuzo:Abeluleki bezakhi zofuzo bangochwepheshe abangahlola ingozi yakho yokuba nengane enesifo sofuzo, banikeze ukwesekwa ngaphambi nangesikhathi sokukhulelwa, futhi bakuqondise ekunakekelweni nasekuphileni kahle kwengane yakho ngemva kokuzalwa. Ungakhuluma nabo nganoma yimiphi imibuzo noma ukukhathazeka ongase ube nakho.

Ingabe ikhona indlela yokunciphisa ingozi yokuba ingane ibe ne-Nager syndrome?

Eqinisweni, njengoba i-Nager syndrome ivame ukuba umphumela wokuguquka kwezakhi zofuzo okungahleliwe , ayikho indlela ethile yokuyivimbela. Okusho ukuthi, kunzima ukusho ukuthi, 'Uma senza lokhu, singavimba lesi sifo ukuthi singabi khona.'

Kodwa-ke, ake sithi omunye wabazali une-Nager syndrome. Uma kunjalo, kungase kube nezindlela zokunciphisa amathuba okuyidlulisela enganeni. Kodwa lokho kungadinga ukuhlolwa ochwepheshe bezakhi zofuzo kanye nabanye abahlinzeki bezempilo.

Uma ulindele umntwana, okungukuthi, uhlela ukukhulelwa , kubaluleke kakhulu ukubona udokotela wakho bese uthola ukuhlolwa kofuzo . Lokhu kungasiza ekuhloleni ingozi yakho yokuba nomntwana onesimo sofuzo.

Uma unengane ene-Nager syndrome, yini okufanele uyicabange ngekusasa?

I-Nager syndrome iyisimo esihlala impilo yonke , futhi ayikho ikhambi eliqondile laso. Kodwa, ungakhathazeki. Ngokwelashwa nokuphathwa okufanele, ingane ingaphila impilo enhle.

Ngemva kokuzalwa kwengane yakho, ithimba lezokwelapha cishe lizohlela ukuhlinzwa ukuze kwelashwe imiphumela emibi yengane yakho, ikakhulukazi ukwenza ukuphefumula nokudla kube lula . Njengoba ingane yakho ikhula, kuzodingeka uyise ingane yakho kudokotela njalo ukuqinisekisa ukuthi ihlangabezana nezigaba zokukhula kanye nokubhekana nanoma yikuphi ukubambezeleka.

Khumbula: Ukungenelela kusenesikhathi kuyisihluthulelo sokusiza ingane yakho iphile impilo enempilo neyanelisayo.

Njengoba ukuhlakanipha kwengane ngokuvamile kungathinteki, uma ithola ukunakekelwa okufanele kwezokwelapha, ukwesekwa kwezemfundo, kanye nothando lomndeni, lezi zingane zingafunda njengezinye izingane futhi ziphile kahle emphakathini.

Uma omunye wabantwana bami ene-Nager syndrome, kungenzeka yini ukuthi nezinye izingane zami nazo ziyoyithola?

Yebo, kungenzeka ukuthi izingane ezingaphezu kweyodwa zibe ne-Nager syndrome , ikakhulukazi uma i-gene yayo idluliselwa kusuka kumzali oyedwa iye enganeni. Lokhu kusho ukuthi ingozi ingahluka kuye ngomlando we-genetic womndeni.

Ukuze uhlole ngokunembile ingozi yokuthi izingane zakho zesikhathi esizayo zizuze izifo zofuzo njengefa, kungcono ukuthiKhuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo . Umeluleki wezakhi zofuzo angakuchazela lokhu ngokuningiliziwe.

Kufanele ngimbone nini udokotela? Yini okufanele ngikhathazeke ngayo?

Ngokungenela kusenesikhathi ukuze kuphathwe ukwelashwa okufanele kanye nemiphumela emibi, ingane yakho ingakhula ifane nezinye izingane ezingontanga yayo futhi iphile impilo ejwayelekile . Kubaluleke kakhulu ukuyisa ingane yakho ekuhlolweni njalo ukuze kuqashwe ukukhula kwayo ngokomzimba kanye nezinyathelo zayo zokukhula, ikakhulukazi ngonyaka wokuqala .

Uma ubona okulandelayo, thintana nodokotela ngokushesha:

• Uma ingane yakho iphuthelwa yizinyathelo ezibalulekile zokukhula . Isibonelo, uma ingaguquguquki, ingahlali phansi, noma ingakhulumi iseneminyaka efanele.
• Uma isikhumba endaweni yokuhlinzwa singapholi, sivuvukele, sishintsha umbala, noma sibonakala siphuma uketshezi oluphuzi noma olucacile (ukutheleleka) .
• Uma ingane yakho ingaphenduli emiyalweni elula noma ibonakala inenkinga yokuzwa .

Kubaluleke kakhulu: Uma ingane yakho inenkinga yokuphefumula , shayela u-911 ngokushesha noma uyiyise emnyangweni wezimo eziphuthumayo esibhedlela esiseduze. Lesi yisimo esiphuthumayo.

Uyini umehluko phakathi kwe-Nager syndrome ne-Miller syndrome?

I-Miller syndrome, eyaziwa nangokuthi i-postaxial acrofacial dysostosis, iyisimo esingavamile sofuzo esifana ne-Nager syndrome. Kuzo zombili izimo, amathambo ne-cartilage yengane akukhuli kahle esibelethweni, okuholela ezicini ezifanayo ebusweni, ezandleni nasezingalweni.

Nokho, kukhona umehluko omkhulu. I-Miller syndrome nayo ithinta izinyawo , okusho ukuthi ezinye izinguquko zingabonakala nasezinyaweni. Kodwa-ke, i-Nager syndrome ngokuvamile ayizithinti izinyawo .

Omunye umehluko obalulekile ukuguqulwa kwezakhi zofuzo okubangela lezi zimo ezimbili. I-Miller syndrome ibangelwa ukuguqulwa kwezakhi zofuzo ze-DHODH . I-Nager syndrome cishe ibangelwa ukuguqulwa kwezakhi zofuzo ze-SF3B4 (kwezinye izimo, ezinye izakhi zofuzo zingase zihileleke, noma imbangela ayaziwa okwamanje).

Okokugcina, izinto ezimbalwa ezibalulekile okudingeka uzikhumbule:

Kuvamile ukuzizwa ukhungathekile futhi ukhathazekile lapho ufunda ngesimo esingavamile kangaka. Kodwa-ke,Kubalulekile ukuthi uqonde ukuthi izingane ezine-Nager syndrome zingaba nesibikezelo esihle kakhulu uma zithola ukwelashwa okufanele kanye nokungenelela kusenesikhathi.

Nakuba singazi imbangela eqondile yezinkinga zofuzo, kubalulekile ukukhumbula ukuthi izakhi zofuzo ezibangela lezi zimo zingadluliselwa kusuka kumzali kuya enganeni. Ngakho-ke, uma uhlela ukukhulelwa , kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo ukuze uhlole ingozi yakho yokuba nengane enesifo sofuzo.

Khumbula, awuwedwa. Kukhona odokotela, abelaphi, nabeluleki abazokusiza futhi bakuqondise kulolu hambo. Ngokunika ingane yakho uthando, ukunakekelwa, kanye nokusekelwa ekudingayo, nangokulandela iseluleko esifanele sezokwelapha, ungavula indlela yokuba ingane yakho ibe nempilo ephumelelayo.

I- Nagar Syndrome, Ukukhubazeka Kwezakhi Zofuzo, Ukukhubazeka Kobuso, Ukukhubazeka Kwezitho Zomzimba, Impilo Yengane, Izifo Zokuzalwa, Ukwelulekwa Kwezakhi Zofuzo