Ingaba intloko yomntwana wakho imile ngendlela engaqhelekanga? Masithethe ngePfeiffer Syndrome

Amazwi awanakuchaza uvuyo oluviwa ngumama okanye ngutata xa bebona usana olusandul’ ukuzalwa. Kodwa ngamanye amaxesha, kuyinto eqhelekileyo ukuziva uloyiko olukhulu kunye nexhala ukuba ubona ukuba ukuma kwentloko yomntwana kungaqhelekanga. Namhlanje siza kuthetha ngemeko engaqhelekanga ekhumbuza uloyiko olunjalo, kodwa enokulawulwa ukuba uyayiqonda kakuhle. Oku kubizwa ngokuba yiPfeiffer Syndrome. Musa ukoyika xa usiva eli gama. Masithethe ngalo ngokulula, inyathelo ngenyathelo.

Yintoni iPfeiffer Syndrome?

Ngamafutshane, i-Pfeiffer syndrome yimeko engaqhelekanga eyenzeka ekuzalweni echaphazela uphuhliso lwentloko yomntwana kunye namathambo obuso.

Ukuze siqonde oku, masiqale sijonge indlela ukhakhayi lwethu oluyilwa ngayo. Xa umntwana ezalwa, umphezulu wentloko yakhe awudalwanga lithambo elinye. Yingqokelela yamathambo amaninzi, okanye iipleyiti. Kukho amalungu akhethekileyo (i-sutures) phakathi kwala macwecwe ethambo. La akhona ukuvumela ukhakhayi ukuba lukhule, okanye lwande, njengoko ingqondo ikhula. Ngokwesiqhelo, la macwecwe ethambo ayadibana aze aqine xa intloko ikhule ngokupheleleyo.

Nangona kunjalo, kumntwana one-Pfeiffer syndrome, amathambo akwikhakayi adibana ngokukhawuleza, ngaphambi kokuba ingqondo ikhule ngokupheleleyo. Cinga ngayo njengesityalo esikwimbiza encinci, kwaye njengoko ikhula, iingcambu ziyanamathela ngaphakathi embizeni. Ngenxa yokuba ingqondo inendawo encinci yokukhula, imo yekhakayi nobuso buyatshintsha ngendlela engaqhelekanga.

Ziziphi iintlobo zePfeiffer syndrome?

I-Pfeiffer syndrome yahlulwe yaba ziintlobo ezintathu eziphambili. Nangona zonke ezi ntlobo zichaphazela inkangeleko yomntwana, iintlobo 2 kunye no-3 zezona zinzima kakhulu. Zinokubangela ukulibaziseka kophuhliso lwengqondo, ukukhubazeka kokufunda, kunye nezinye iingxaki ezinkulu ezibandakanya ingqondo, intshukumo, kunye nenkqubo yemithambo-luvo.

Yintoni ebangela iPfeiffer syndrome?

Le meko ibangelwa kukuguquka kwezakhi zofuzo okulawula ukukhula nokufa kweeseli emzimbeni wethu.

Ngamanye amaxesha oku kusenokufunyanwa kubazali ukuya emntwaneni. Kodwa kwiimeko ezininzi, abazali abanaso esi sifo. Oku kuthetha ukuba esi sifo sibangelwa lutshintsho olutsha olwenzeka ngokungacwangciswanga (ngokungalindelekanga) ngexesha lokukhula kwezakhi zofuzo zomntwana. Ngoko ke, njengomzali, musa ukuziva unetyala ngale nto.

Olu tshintsho lwemfuza lubangela utshintsho kwindlela iiproteni ezithile eziveliswa kwaye zisebenza ngayo ngexesha lokukhulelwa. Ngenxa yoko, ezo proteni zithumela umyalezo ongalunganga kumathambo ekhanda lomntwana ukuba "adibane ngokukhawuleza kakhulu." Oku kubeka uxinzelelo engqondweni kwaye kubangele ukuba i-khakhayi itshintshe imo. Ngamanye amaxesha, amathambo kwiminwe nakwiinzwane nawo anokudibana ngokukhawuleza kakhulu.

Ziziphi iimpawu eziphambili?

Iimpawu ziyahluka kusana ngalunye kwaye kuxhomekeke kuhlobo lwesifo. Ezi mpawu zibonakala kakhulu entlokweni nasebusweni, kwiminwe, kumalungu, nakwezinye iindawo zomzimba.

Intloko nobuso

• Impumlo ebanzi, ethe tyaba enencam egobileyo ezantsi
• Amehlo akude kakhulu kwaye avele ngaphandle
• Intloko emfutshane ukusuka phambili ukuya ngasemva
• Ibunzi eliphakamileyo kakhulu
• Ukubonakala okutshonileyo phakathi kobuso
• Umhlathi omncinci kakhulu ongaphezulu kwaye ngenxa yoko amazinyo axineneyo naxineneyo

Iminwe neenzwane

• Iminwe emifutshane
• Iinzwane ezinkulu (zezandla neenyawo) ezibanzi kunesiqhelo kwaye zigobile kude nezinye iinzwane
• Mhlawumbi iminwe/iinzwane ezineentambo

Ezinye iingxaki

• Ukulahlekelwa kukuva: Ngaphezulu kwama-50% abantwana banengxaki yokuva.
• Iingxaki zamazinyo: Iingxaki zokulungelelaniswa kwamazinyo kunye nomhlathi.
• Ubunzima bokutya: Ingakumbi ebuntwaneni.
• Iingxaki zokuphefumla: Iimeko ezifana ne-sleep apnea, ezibangela ukuba ukuphefumla kuyeke okomzuzwana ngexesha lokulala.
• Iingxaki zokubona: Amehlo avele ngaphandle anokubangela ukoma kunye nokungakwazi ukuvala ngokupheleleyo iinkophe.
• Ukulibaziseka kophuhliso nokufunda (ingakumbi kwiintlobo 2 kunye no-3).

Ungayixilonga njani le meko?

Ugqirha wakho unokuxilonga esi sifo ngexesha lokukhulelwa nge -ultrasound okanye nge -MRI scan. Emva kokuba umntwana ezelwe, ugqirha unokwazi ukubona ukuba esi sifo sikhona ngokujonga intloko yomntwana kunye neenzwane ezinkulu ngexesha lokuhlolwa komzimba.

Ukuqinisekisa ukuba le yiPfeiffer syndrome okanye yenye imeko, ugqirha wakho unokucebisa ezinye iimvavanyo ezininzi.

• I-X-ray okanye i-CT scan: Jonga ngqo indlela amathambo ekhakayi alungelelaniswe ngayo.
• Uvavanyo lwemfuza: Thatha isampuli yegazi okanye yamathe ukuqinisekisa ukuba utshintsho lwemfuza olubangela oku lukhona na.

Zithini iindlela zonyango?

Unyango olufunyanwa ngumntwana luxhomekeke kuhlobo lwesifo kunye neempawu anazo. Oku kufuna inkxaso yeqela elikhulu leengcali, kuquka oogqirha, oogqirha botyando, oogqirha bokuthetha, kunye nabaqeqeshi bomzimba . Utyando ludlala indima enkulu kunyango.

Utyando lwentloko

Abantwana abaninzi benza utyando lokulungisa imo yentloko yabo ngaphambi kokuba babe neenyanga ezili-18 ubudala. Oku kuneenjongo ezimbini eziphambili:

1. Ukunciphisa uxinzelelo engqondweni.

2. Ukunika ingqondo indawo eyidingayo ukuze ikhule ngokukhululekileyo.

Emva kolu tyando, kuya kunxitywa isigcina-ntloko esikhethekileyo ukunceda ukhakhayi luphole lube kwimo efanelekileyo.Inikwa ukuba inxitywe. Kusenokufuneka wenze utyando olunjalo kabini ukuya kane ebomini bakho.

Utyando lobuso obuphakathi

Abanye abantwana badinga utyando ukuze kulungiswe iingxaki zemihlathi kunye nokubeka amathambo embindini wobuso phambili. Oku kudla ngokwenziwa emva kokuba umntwana eneminyaka emi-6 ubudala ubuncinane.

Unyango lweengxaki zokuphefumla

Abanye abantwana banengxaki yokuphefumla ngenxa yokuvaleka kwendlela yomoya. Ngenxa yesi sizathu,

• Uza kucelwa ukuba unxibe imaski ekhethekileyo ebizwa ngokuba yiCPAP (Continuous Positive Airway Pressure) xa ulele.
• Iitoni okanye ii-adenoids zisuswa ngotyando.
• Kwiimeko ezinzima kakhulu, kwenziwa inkqubo yotyando ebizwa ngokuba yi-tracheostomy , ebandakanya ukwenza umngxuma omncinci entanyeni nokufaka ityhubhu ngqo kumbhobho womoya ukuze kuvumeleke ukuphefumla.

Ezinye iindlela zonyango

Ukongeza koku, kuxhomekeke kwiimfuno zomntwana,

• Unyango lwamazinyo kwiingxaki zamazinyo
• Utyando lweengxaki zeminwe
• Izixhobo zokuncedisa ukuva okanye utyando lweengxaki zokuva
• Unyango lweengxaki zokubona
• Unyango lokuthetha ukuze kuphuhliswe izakhono zokuthetha nezolwimi
• Izinto ezifana nonyango lomzimba ziyafuneka ukuphucula ukuhambahamba.

Injani ixesha lokuphila?

Le yingongoma ebucayi kakhulu.

• Abantwana abane- Type 1 Pfeiffer syndrome banokunyangwa kakuhle kakhulu. Baphila ubomi obuqhelekileyo. Banokufunda kakuhle, badlale kakuhle, kwaye baphile njengabantu abadala abazimeleyo.
• Uhlobo lwesi-2 nolwesi-3 lunzima ngakumbi. Aba bantwana bajongene nemingeni emininzi yokuhamba, ukuphefumla, kunye nokusebenza kwengqondo. Iingxaki zokuphefumla kunye nezemithambo-luvo zinokunciphisa ubomi babo. Nangona kunjalo, ngonyango oluqhubekayo kunye nenkxaso, umgangatho wobomi babo unokuphuculwa.