I-Nager Syndrome: Ngaba umntwana wakho kufuneka azi ngale meko ingaqhelekanga?

Ngamanye amaxesha xa ujonge usana olusandul’ ukuzalwa, ubona utshintsho oluncinci ebusweni nasezandleni zalo. Kuqhelekile ukuba wena, njengomzali, uzive ukhathazekile kakhulu xa ubona izinto ezinje. Namhlanje siza kuthetha ngesinye sezifo ezingaqhelekanga, kodwa ezibalulekileyo zemfuza ekufuneka uziqaphele. Leyo yi- Nager syndrome .

Yintoni kanye kanye i-Nager syndrome?

Ngamafutshane, i-Nager syndrome yimeko engaqhelekanga kakhulu yemfuza . Ikwabizwa ngokuba yi -acrofacial dysostosis type 1, uhlobo lwe-Nager . Umntwana onesi sifo uzalwa enamathambo ebusweni, ezandleni nasezingalweni zakhe angakhulanga kakuhle. Cinga nje ngala mathambo awakhulanga kakuhle ngelixa umntwana esesibelekweni.

Ngenxa yokungakhuli kakuhle kwamathambo, umntwana unokufumana iziphumo ebezingalindelekanga. Umzekelo, ukulahlekelwa kukuva kunokubakho ngenxa yokuba ezinye iindawo zeendlebe azakhekanga kakuhle. Ngoko ke, izinto ezifana nokufunda ukuthetha zinokulibaziseka. Kodwa, eyona nto ibalulekileyo kukuba i-Nager syndrome ayidli ngokuchaphazela uphuhliso lomntwana lokuqonda . Oko kukuthi, akukho ngxaki ngengqondo yomntwana. Oku kuyintuthuzelo enkulu kubazali.

Ngubani ochaphazeleka kakhulu yi-Nager syndrome?

Ngenxa yokuba esi sisifo semfuza , nabani na unokuchaphazeleka yile meko ukuba i-gene ethile kwi -DNA yomntwana iyatshintshatshintsha ngelixa esakhula esibelekweni. Oku kuthetha ukuba kunzima ukuqikelela ukuba ngubani oza kuyivelisa.

Kukho iindlela ezimbini eziphambili umntwana anokungena ngazo kule meko:

1. Ilifa elivela kubazali: Ngamanye amaxesha, umntwana angalifumana eli jini liguqukileyo kumama okanye kutata.

2. Utshintsho olutsha lwemfuza: Oku kwenzeka rhoqo. Oko kukuthi, nokuba abazali bobabini abanayo le ngxaki yemfuza, umntwana ukhula olu tshintsho lwemfuza. Oku kwenzeka ngokungacwangciswanga.

Ungachaza ngakumbi malunga nendlela oku okuchaphazela ngayo imfuza?

Khawuthelekelele ukuba umntwana uzuze esi sifo kubazali bakhe.

• Ngamanye amaxesha, nokuba ngumzali omnye kuphela one-gene eguquliweyo (i-autosomal dominant), umntwana angayizuza njengelifa. Oku kuthetha ukuba ukuba umama okanye utata une-gene kwaye idluliselwe emntwaneni, umntwana naye unokuba nale meko.
• Kwezinye iimeko, bobabini abazali banokuba ngabathwali be-gene eguquliweyo (i-autosomal recessive) . I-carrier ithetha ukuba abanazo iimpawu, kodwa bane-gene echaphazelekayo kwi-DNA yabo. Ngoko ke, ukuba bobabini abazali bangabathwali, kwaye umntwana uzuze i-gene eguquliweyo kubo bobabini, umntwana unokuba ne-Nager syndrome.

Khawuthelekelele nje ukuba abantwana abaninzi kusapho olunye bane-Nager syndrome, kodwa akukho mama okanye utata onayo. Kwimeko enjalo, kusenokwenzeka ukuba bobabini abazali bangabathwali, njengoko benditshilo ngaphambili, kwaye i-gene idluliselwa ebantwaneni ngendlela ye-autosomal recessive pattern.

Ixhaphake kangakanani le meko ibizwa ngokuba yi-Nager syndrome?

Enyanisweni, i-Nager syndrome yimeko engaqhelekanga kakhulu . Akukho zibalo zichanekileyo zokuba ixhaphake kangakanani. Oko kuthetha ukuba kunzima ukutsho ukuba bangaphi abantu emhlabeni abanayo. Nangona kunjalo, kukho iimeko ezingaphezu kwe-100 ezixeliweyo kwiincwadi zonyango. Ngoko ke ungacinga ukuba inqabile kangakanani. Ngoko ke, akumangalisi ukuba awuzange uve ngayo okanye uyibone.

Ziziphi iimpawu ezibonakalayo zomntwana one-Nager syndrome?

Le meko ichaphazela kakhulu indlela ubuso bomntwana wakho, izandla, kunye neengalo ezingentla ezikhula ngayo. Makhe sijonge ezinye zeempawu eziqhelekileyo:

Iimpawu ezibonakalayo ebusweni, ezandleni nasezingalweni:

• Incakuba eqhekekileyo: Oku kwenzeka xa incakuba engaphezulu emlonyeni womntwana ingavaleki kakuhle.
• Ngokwe-Clinodactyly okanye ngokwe-syndactyly: Iminwe ingabonakala ngathi igobile kancinci, okanye eminye yeminwe ingabonakala ngathi idibene nolusu.
• Imingxunya ye-palpebral ejonge ezantsi: Iikona zangaphandle zamehlo zinokubonakala ngathi zihla kancinci.
• Umhlathi omncinci ongezantsi (i-micrognathia): Umhlathi ongezantsi usenokuba mncinci kunesiqhelo. Oku ngamanye amaxesha kunokubangela ukuba ubuso bomntwana bubonakale buhlukile kancinci.
• Ubhontsi ongekhoyo okanye okhubazekileyo: Ubhontsi usenokungabikho, okanye imo yawo ingatshintshwa.
• Iingalo ezimfutshane kunye nobunzima bokujika isandla engqinibeni: Ingalo (ukusuka engqinibeni ukuya esihlahleni) isenokuba mfutshane. Ithambo le-radius elingaphakathi kwesandla nalo lisenokuba lingekho. Umgama wokunyakaza engqinibeni nawo unokuncipha.
• Iindlebe ezincinci: Iindlebe zisenokuba ncinci kuneziqhelekileyo.
• Amathambo ezihlathi angomelelanga (i-malar hypoplasia): Amathambo ezihlathi awakakhulanga ngokupheleleyo, nto leyo enokubangela ukuba izihlathi zibonakale zitshonile kancinci.

Kubalulekile: Ayizizo zonke iintsana ezinezi mpawu ngendlela efanayo. Ezinye iintsana zinokuba nezimbalwa kuphela, ngelixa ezinye zinokuba nezininzi.

Nangona kungaqhelekanga, ezinye iziphene zokuzalwa zinokuvela entliziyweni yomntwana, kwizintso, kwisini nakwindlela yomchamo.

Iziphumo ebezingalindelekanga ezibangelwa koku:

Ngenxa yokuba amanye amathambo omntwana akakhuli kakuhle ngenxa yotshintsho lwemfuza, i-Nager syndrome inokubangela ezinye iziphumo ebezingalindelekanga kunye neempawu. Nazi:

• Ukulahlekelwa kukuva: Njengoko benditshilo ngaphambili, ukulahlekelwa kukuva kunokubangelwa ziingxaki zokukhula ezindlebeni.
• Ukuvaleka komoya: Umntwana usenokuba nobunzima bokuphefumla, ingakumbi ngenxa yomhlathi omncinci ongezantsi.
• Ubunzima bokutya: Iimeko ezifana ne-cleft palate zingenza kube nzima kumntwana ukuncancisa nokuginya ukutya.
• Ukukhula kwentetho okulibazisekileyo: Ngenxa yokuphazamiseka kokuva kunye notshintsho kwisakhiwo somlomo, ukufunda ukuthetha kunokulibaziseka kancinci.

Yintoni ebangela i-Nager syndrome?

Eyona nto ibangela oku kukuguquka kwezakhi zofuzo . Izazinzulu zifumanise ukuba malunga nama-50% abantu abane-Nager syndrome banale meko ngenxa yokuguquka kwezakhi zofuzo ekuthiwa yi-SF3B4 . Le jini ibandakanyeka kwimisebenzi emininzi ebalulekileyo enxulumene nokukhula nokwahlukana kweeseli emzimbeni wethu.

Ama- 50% aseleyo abantu abane-Nager syndrome azuzwe njengelifa kwi- autosomal recessive pattern. Oko kuthetha ukuba, njengoko benditshilo ngaphambili, bobabini abazali bangabathwali, kwaye umntwana ufumana zombini ezo gene ziguquliweyo. Nangona kunjalo, xa kufikwa kolu hlobo (i-autosomal recessive), uninzi lwexesha i-gene ethile eyibangelayo ayikachongwa . Oko kuthetha ukuba, oogqirha bayazi ukuba yi-genetic, kodwa i-gene ebangela loo nto isaphandwa.

Ifunyanwa njani i-Nager syndrome?

Emva kokuba umntwana ezelwe, oogqirha baya kwenza uvavanyo olupheleleyo lomntwana. Kulapho baqala khona ukukhangela naziphi na iimpawu zomzimba ezinxulumene nale meko. Umzekelo, baya kujonga ngononophelo imo yobuso bomntwana, indawo yeminwe ezandleni, kunye nemo yeendlebe.

Ukongeza, i-X-ray inokwenziwa ukuze kubonwe indlela amathambo ebusweni bomntwana, ezandleni zakhe, nakwiingalo zakhe ezingaphezulu akhule ngayo. Oku kungabonisa ngokucacileyo ukuba akukho kukhula kwamathambo.

Uvavanyo lwemfuza lunokwenziwa ukuze kufunyaniswe le meko ngokuqinisekileyo. Oku kuquka ukuthatha isampuli encinci yegazi esithendeni somntwana ize ihlalutywe kwilebhu. Apho, ingcali ijonga naluphi na utshintsho kwi -DNA yomntwana, ii-chromosomes, okanye iiproteni. Olu tshintsho bubungqina bokuba le meko inxulumene nemfuza.

Ziziphi iindlela zonyango lwe-Nager syndrome?

Unyango lwe-Nager syndrome luyahluka ngokuxhomekeke kubukhulu bemeko.Oko kuthetha ukuba ayingomntwana wonke ofuna uhlobo olufanayo lonyango. Nangona kunjalo, umntwana onesi sifo unokufuna utyando olunye okanye ngaphezulu ukulawula ezinye zeziphumo ebezingalindelekanga, njengasemva kokuzalwa. Ithemba lolu tyando kukwenza kube lula kumntwana ukwenza izinto ezibalulekileyo ebomini, njengokuphefumla nokutya.

Iintlobo zotyando ezixhaphakileyo ezenziwayo:

• I-Tracheostomy: Oku kuquka ukwenza umngxuma omncinci ngaphambili entanyeni yomntwana, kwi-windpipe (trachea), nokufaka ityhubhu kuyo. Oku kwenza kube lula kumntwana ukuphefumla , ingakumbi ukuba indlela yomoya ivalekile ngenxa yomhlathi omncinci ongezantsi.
• I-Gastrostomy: Kule nkqubo, kuvulwa umngxuma omncinci ngesikhumba sesisu somntwana kwaye kufakwa ityhubhu yokutyisa. Oku kuvumela umntwana ukuba afumane izondlo azidingayo ukuze aphile , ingakumbi ukuba i-cleft palate yenza kube nzima ukusela okanye ukuginya.
• I-Tympanostomy: Kule nkqubo, iityhubhu ezincinci zifakwa kwi-eardrum yomntwana. Oku kunceda ukuthintela usulelo lwendlebe kwaye kunokuphucula ukuva . Ngokuxhomekeke kubukhali bemeko, izixhobo zokuva nazo zinokufuneka.
• Utyando lwe-craniofacial: Olu luthetha utyando ebusweni nasekhayeni. Lunokulungisa ezinye zenguqu zobuso kumntwana, ezifana ne-cleft palate, umhlathi ongakhulanga kakuhle, kunye namehlo atyebileyo.

Ezinye iindlela zonyango zokunceda ukulawula iimpawu

Ukufunyanwa kwangethuba kunye nonyango lwale meko kunokukhokelela kwiziphumo ezingcono kakhulu kumntwana wakho. Ukongeza kotyando, kukho ezinye iindlela zonyango kunye neenkonzo ezinokunceda umntwana wakho afikelele kwisakhono sakhe esipheleleyo.

• Unyango lomzimba: Oku kunceda umntwana ukuba ahambe kakuhle, asebenzise iingalo zakhe, kwaye enze imisebenzi yemihla ngemihla . Oku kubaluleke kakhulu ukwandisa uluhlu lokushukuma kweengalo nemilenze, kunye nokuqinisa izihlunu.
• Unyango lokuthetha: Ekubeni umntwana enokuba neengxaki zokuva, oku kunokuchaphazela ixesha nendlela afunda ngayo ukuthetha. Unyango lokuthetha lunceda ukulungisa oku kulibaziseka ekuphuhlisweni kwentetho .
• Unyango lwezengqondo: Olu nyango alufumaneki kuphela kumntwana, kodwa nakusapho lonke . Lubonelela ngesikhokelo kunye nenkxaso ukunceda wonke umntu ukuba ajongane noxinzelelo kunye noxinzelelo oluza nokuphila nale meko, kunye nokugcina impilo yengqondo intle.
• Ingcebiso ngezofuzo:Abacebisi ngezofuzo ziingcali ezinokuvavanya umngcipheko wokuba nomntwana onesifo sezofuzo, zinike inkxaso ngaphambi nangexesha lokukhulelwa, kwaye zikukhokele ekunyamekelweni nasekuphileni kakuhle komntwana wakho emva kokuzalwa. Ungathetha nabo ngayo nayiphi na imibuzo okanye iinkxalabo onokuba nazo.

Ngaba ikho indlela yokunciphisa umngcipheko wokuba umntwana abe ne-Nager syndrome?

Enyanisweni, ekubeni i-Nager syndrome idla ngokuba yimbangela yokuguquka kwezakhi zofuzo okungacwangciswanga , akukho ndlela ithile yokuyithintela. Oko kukuthi, kunzima ukuthi, 'Ukuba senza oku, singayithintela le sifo ukuba singaphuhli.'

Nangona kunjalo, masithi omnye wabazali une-Nager syndrome. Kwimeko enjalo, kusenokubakho iindlela zokunciphisa amathuba okuyidlulisela emntwaneni. Kodwa oko kuya kufuna uvavanyo oluvela kwiingcali zemfuza kunye nabanye ababoneleli ngeenkonzo zonyango.

Ukuba ulindele umntwana, oko kukuthi, uceba ukukhulelwa , kubaluleke kakhulu ukubona ugqirha wakho uze ufumane uvavanyo lwemfuza . Oku kunokukunceda uhlole umngcipheko wokuba nomntwana onesimo semfuza.

Ukuba unomntwana one-Nager syndrome, yintoni omele ucinge ngayo ngekamva?

I-Nager syndrome yimeko ehlala ubomi bonke , kwaye akukho ndlela ithile yokuyinyanga . Kodwa, ungakhathazeki. Ngonyango olufanelekileyo nolawulo olufanelekileyo, umntwana angaphila ubomi obuhle.

Emva kokuba umntwana wakho ezelwe, iqela lezonyango liza kucwangcisa utyando ukuze kunyangwe iziphumo ebezingalindelekanga zomntwana wakho, ingakumbi ukwenza ukuphefumla nokutya kube lula . Njengoko umntwana wakho ekhula, kuya kufuneka umse umntwana wakho kugqirha rhoqo ukuqinisekisa ukuba uhlangabezana nemigangatho yokukhula kwakhe kwaye ulungise naziphi na iingxaki.

Khumbula: Ukungenelela kwangoko yeyona nto ibalulekileyo ekuncedeni umntwana wakho aphile ubomi obusempilweni nobanelisayo.

Ekubeni ingqondo yomntwana ingasoloko ichaphazeleka, ukuba ufumana unyango olufanelekileyo, inkxaso yemfundo, nothando losapho, aba bantwana banokufunda njengabanye abantwana baze baphile kakuhle eluntwini.

Ukuba omnye wabantwana bam une-Nager syndrome, ngaba kunokwenzeka ukuba nabanye abantwana bam nabo banokuba nayo?

Ewe, kunokwenzeka ukuba abantwana abangaphezu komnye babe ne-Nager syndrome , ingakumbi ukuba i-gene yayo idluliselwa kumzali omnye ukuya emntwaneni. Oku kuthetha ukuba umngcipheko unokwahluka ngokuxhomekeke kwimbali ye-genetic yentsapho.

Ukuze uvavanye ngokuchanekileyo umngcipheko wokuba abantwana bakho bexesha elizayo bafumane izifo zemfuza, kungcono ukubaThetha nogqirha wakho malunga novavanyo lwemfuza . Umcebisi wemfuza angakuchazela oku ngokweenkcukacha.

Ndifanele ndimbone nini ugqirha? Yintoni endifanele ndiyixhalabele?

Ngokungenelela kwangoko ukulawula unyango olufanelekileyo kunye nemiphumo emibi, umntwana wakho angakhula abe njengabanye abantwana abaneminyaka yakhe aze aphile ubomi obuqhelekileyo . Kubaluleke kakhulu ukumsa umntwana wakho rhoqo ukuze ahlolwe ukuze ajonge ukukhula kwakhe ngokwasemzimbeni kunye nemigangatho yokukhula, ingakumbi kunyaka wokuqala .

Ukuba ubona oku kulandelayo, bonana nogqirha ngoko nangoko:

• Ukuba umntwana wakho uphoswa ziindlela ezibalulekileyo zokukhula . Umzekelo, ukuba akaguquguquki, akahlali phantsi, okanye akathethi eneminyaka efanelekileyo.
• Ukuba ulusu kwindawo yotyando alupholi, ludumbile, lutshintshe umbala, okanye lubonakala ngathi luphuma ulwelo olutyheli okanye olucacileyo (usulelo) .
• Ukuba umntwana wakho akaphenduli kwimiyalelo elula okanye ubonakala enengxaki yokuva .

Kubaluleke kakhulu: Ukuba umntwana wakho unengxaki yokuphefumla , fowunela u-911 ngoko nangoko okanye umse kwisebe likaxakeka lesibhedlele esikufutshane. Le yingxamiseko.

Yintoni umahluko phakathi kwe-Nager syndrome kunye ne-Miller syndrome?

I-Miller syndrome, ekwaziwa ngokuba yi -postaxial acrofacial dysostosis, yimeko engaqhelekanga yemfuza efana ne-Nager syndrome. Kuzo zombini ezi meko, amathambo omntwana kunye ne-cartilage azikhuli kakuhle esibelekweni, nto leyo ebangela iimpawu ezifanayo ebusweni, ezandleni nasezingalweni.

Nangona kunjalo, kukho umahluko ophambili. I-Miller syndrome ikwachaphazela iinyawo , nto leyo ethetha ukuba utshintsho oluthile lunokubonwa nakwiinyawo. Nangona kunjalo, i-Nager syndrome ayidli ngokuzichaphazela iinyawo .

Omnye umahluko obalulekileyo kukuguquka kwezakhi zofuzo okubangela ezi meko zimbini. I-Miller syndrome ibangelwa kukuguquka kwezakhi zofuzo kwi-DHODH . I-Nager syndrome ibangelwa kukuguquka kwezakhi zofuzo kwi-SF3B4 (kwezinye iimeko, ezinye izakhi zofuzo zisenokuba zibandakanyekile, okanye imbangela ayaziwa okwangoku).

Okokugqibela, zimbalwa izinto ezibalulekileyo ekufuneka uzikhumbule:

Kuqhelekile ukuziva uxinezelekile kwaye uxhalabile xa ufunda ngesi sifo singaqhelekanga. Nangona kunjalo,Kubalulekile ukuba uqonde ukuba abantwana abane-Nager syndrome banokuba nekamva elihle ukuba bafumana unyango olufanelekileyo kunye nokungenelela kwangethuba.

Nangona singayazi eyona nto ibangela iingxaki zemfuza, kubalulekile ukukhumbula ukuba ii-genes ezibangela ezi meko zinokudluliselwa kumzali ukuya emntwaneni. Ngoko ke, ukuba uceba ukukhulelwa , licebo elihle ukuthetha nogqirha wakho malunga novavanyo lwemfuza ukuze kuhlolwe umngcipheko wokuba nomntwana oneengxaki zemfuza.

Khumbula, awuwedwa. Kukho oogqirha, iingcali zonyango, kunye nabacebisi abanokukunceda nokukukhokela kolu hambo. Ngokunika umntwana wakho uthando, inkathalo, kunye nenkxaso ayidingayo, nangokulandela iingcebiso zonyango ezifanelekileyo, ungavula indlela yokuba umntwana wakho abe nobomi obuphumelelayo.

Isifo sikaNagar , Iziphene zoFuzo, Ukungaqheleki koBuso, Ukungaqheleki kwamalungu omzimba, Impilo yoMntwana, Izifo zokuzalwa, Ingcebiso ngeFuzo