Ingabe ikhanda lomntwana wakho limile ngendlela engajwayelekile? Ake sixoxe nge-Pfeiffer Syndrome

Amazwi awakwazi ukuchaza injabulo umama noma ubaba ayizwayo lapho bebona umntwana osanda kuzalwa. Kodwa ngezinye izikhathi, kuyinto evamile ukuzwa ukwesaba okukhulu nokukhathazeka uma ubona ukuthi ukuma kwekhanda lomntwana kuyinto engavamile. Namuhla sizokhuluma ngesimo esingavamile esiletha ukwesaba okunjalo engqondweni, kodwa esingalawulwa uma usiqonda kahle. Lokhu kubizwa ngokuthi i-Pfeiffer Syndrome. Ungakhathazeki uma uzwa leli gama. Ake sixoxe ngakho kalula, isinyathelo ngesinyathelo.

Iyini i-Pfeiffer Syndrome?

Kalula nje, i-Pfeiffer syndrome yisimo esingavamile esenzeka ekuzalweni esithinta ukukhula kogebhezi lomntwana kanye namathambo obuso.

Ukuze siqonde lokhu, ake siqale sibheke ukuthi ugebhezi lwethu lwakheka kanjani. Lapho umntwana ezalwa, ingxenye ephezulu yekhanda lakhe ayikhiwanga yithambo elilodwa. Liyiqoqo lezingcezu eziningana zamathambo, noma amapuleti. Kunezihlanganisi ezikhethekile (ama-suture) phakathi kwala mapuleti amathambo. Lawa akhona ukuvumela ugebhezi ukuba lukhule, noma lunwebeke, njengoba ubuchopho bukhula. Ngokuvamile, la mapuleti amathambo ayahlangana futhi abe aqinile uma ikhanda selikhule ngokugcwele.

Kodwa-ke, enganeni ene-Pfeiffer syndrome, amapuleti amathambo ekhanda ahlangana ngokushesha okukhulu, ngaphambi kokuba ubuchopho bukhule ngokugcwele. Cabanga ngakho njengesitshalo ebhodweni elincane, futhi njengoba likhula, izimpande ziyanamathela ngaphakathi ebhodweni. Ngenxa yokuthi ubuchopho bunendawo encane yokukhula, isimo sekhanda nobuso kushintsha ngendlela engavamile.

Yiziphi izinhlobo ze-Pfeiffer syndrome?

I-Pfeiffer syndrome ihlukaniswe ngezinhlobo ezintathu eziyinhloko. Nakuba zonke lezi zinhlobo zithinta ukubukeka komntwana, izinhlobo 2 no-3 yizo ezimbi kakhulu. Zingabangela ukubambezeleka kokukhula kwengqondo, ukukhubazeka kokufunda, kanye nezinye izinkinga ezinkulu ezihilela ubuchopho, ukunyakaza, kanye nesimiso sezinzwa.

Yini ebangela i-Pfeiffer syndrome?

Lesi simo sibangelwa ukuguquka kwezakhi zofuzo okulawula ukukhula nokufa kwamaseli emizimbeni yethu.

Ngezinye izikhathi lokhu kungazuzwa njengefa kubazali kuya enganeni. Kodwa ezimweni eziningi, abazali abanalo lesi sifo. Lokhu kusho ukuthi lesi simo sibangelwa ushintsho olusha oluvela ngokungazelelwe (ngokuzumayo) ngesikhathi sokuthuthukiswa kwezakhi zofuzo zomntwana. Ngakho-ke, njengomzali, ungazizwa unecala ngalokhu.

Lokhu kuguquka kwezakhi zofuzo kubangela ushintsho endleleni amaprotheni athile akhiqizwa futhi asebenza ngayo ngesikhathi sokukhulelwa. Ngenxa yalokho, lawo maprotheni athumela isignali engalungile emathanjeni ekhanda lomntwana ukuze "ahlangane ngokushesha kakhulu." Lokhu kubeka ingcindezi ebuchosheni futhi kubangele ukuthi ukhanda lushintshe isimo. Ngezinye izikhathi, amathambo eminweni nasezinzwaneni nawo angahlangana ngokushesha kakhulu.

Yiziphi izimpawu eziyinhloko?

Izimpawu ziyahlukahluka kusuka kusana kuya kosana futhi kuye ngohlobo lwesifo. Lezi zimpawu zibonakala kakhulu ekhanda nasebusweni, eminweni, emalungeni, nakwezinye izingxenye zomzimba.

Ikhanda nobuso

• Impumulo ebanzi, eyisicaba enesihloko esigobile phansi
• Amehlo aqhelelene kakhulu futhi avelele
• Ikhanda elifushane kusukela phambili kuya emuva
• Ibunzi eliphakeme kakhulu
• Ukubonakala okushonile phakathi kobuso
• Umhlathi ongaphezulu omncane kakhulu futhi ngenxa yalokho amazinyo aminyene futhi aminyene

Iminwe nezinzwane

• Iminwe emifushane
• Izinzwane ezinkulu (zezandla nezinyawo) zibanzi kunokuvamile futhi zigobile kude nezinye izinzwane.
• Mhlawumbe iminwe/izinzwane ezinezintambo

Ezinye izinkinga

• Ukulahlekelwa ukuzwa: Izingane ezingaphezu kuka-50% zinenkinga yokuzwa.
• Izinkinga zamazinyo: Izinkinga zokulungiswa kwezinyo kanye nomhlathi.
• Izinkinga zokudla: Ikakhulukazi ebuntwaneni.
• Izinkinga zokuphefumula: Izimo ezifana ne-sleep apnea, okubangela ukuthi ukuphefumula kume okwesikhashana ngesikhathi sokulala.
• Izinkinga zokubona: Amehlo avele angabangela ukoma nokungakwazi ukuvala amehlo ngokuphelele.
• Ukulibaziseka kokukhula nokufunda (ikakhulukazi ezinhlotsheni 2 no-3).

Ungasithola kanjani lesi simo?

Udokotela wakho angasithola lesi simo ngesikhathi sokukhulelwa nge -ultrasound noma nge -MRI scan. Ngemva kokuzalwa komntwana, udokotela angakwazi ukubona ukuthi lesi simo sikhona yini ngokubheka isikhumba sekhanda somntwana kanye nezinzwane ezinkulu ngesikhathi sokuhlolwa ngokomzimba.

Ukuqinisekisa ukuthi lokhu kuyi-Pfeiffer syndrome noma esinye isimo, udokotela wakho angase ancome ezinye izivivinyo eziningana.

• I-X-ray noma i-CT scan: Bona kahle ukuthi amathambo ekhanda aqondene kanjani.
• Ukuhlolwa kwezakhi zofuzo: Thatha isampula yegazi noma yamathe ukuqinisekisa ukuthi ukuguquka kwezakhi zofuzo okubangela lokhu kukhona yini.

Yiziphi izindlela zokwelapha?

Ukwelashwa umntwana akutholayo kuncike ohlotsheni lwesifo kanye nezimpawu anazo. Lokhu kudinga ukwesekwa yithimba elikhulu lochwepheshe, okuhlanganisa odokotela, odokotela abahlinzayo, abelaphi bokukhuluma, kanye nabelaphi bomzimba . Ukuhlinzwa kudlala indima enkulu ekwelapheni.

Ukuhlinzwa kogebhezi

Izingane eziningi ziyahlinzwa ukuze kulungiswe ukuma kogebhezi lwazo ngaphambi kokuba zibe nezinyanga ezingu-18 ubudala. Lokhu kunezinjongo ezimbili eziyinhloko:

1. Ukunciphisa ingcindezi ebuchosheni.

2. Ukunikeza ubuchopho isikhala obusidingayo ukuze bukhule ngokukhululeka.

Ngemva kwalokhu kuhlinzwa, kuzogqokwa isigqoko esikhethekile ukusiza ugebhezi ukuba luphole lube nesimo esifanele.Inikezwa ukugqokwa. Kungase kudingeke ukuthi uhlinzwe kabili kuya kane ngesikhathi sokuphila kwakho.

Ukuhlinzwa kobuso obuphakathi

Ezinye izingane zidinga ukuhlinzwa ukuze kulungiswe izinkinga zemihlathi futhi kuyiswe amathambo aphakathi kobuso phambili. Lokhu kuvame ukwenziwa ngemva kokuba ingane isineminyaka okungenani engu-6 ubudala.

Ukwelashwa kwezinkinga zokuphefumula

Ezinye izingane zinenkinga yokuphefumula ngenxa yokuvaleka komoya. Ngenxa yalokhu,

• Uzocelwa ukuthi ugqoke imaski ekhethekile ebizwa ngokuthi i-CPAP (Continuous Positive Airway Pressure) ngenkathi ulele.
• Ama-tonsils noma ama-adenoids asuswa ngokuhlinzwa.
• Ezimweni ezimbi kakhulu, kwenziwa inqubo yokuhlinzwa ebizwa ngokuthi i-tracheostomy , ehilela ukwenza imbobo encane entanyeni bese kufakwa ipayipi ngqo epayipini lomoya ukuze kuvunyelwe ukuphefumula.

Ezinye izindlela zokwelapha

Ngaphezu kwalokhu, kuye ngezidingo zomntwana,

• Ukwelashwa kwamazinyo ngezinkinga zamazinyo
• Ukuhlinzwa kwezinkinga zeminwe
• Izinsiza zokuzwa noma ukuhlinzwa kwezinkinga zokuzwa
• Ukwelashwa kwezinkinga zokubona
• Ukwelashwa kwenkulumo ukuthuthukisa amakhono okukhuluma nolimi
• Izinto ezifana nokwelashwa ngokomzimba ziyadingeka ukuze kuthuthukiswe ukuhamba.

Injani impilo elindelekile?

Lesi yisihloko esibucayi kakhulu.

• Izingane ezine- Type 1 Pfeiffer syndrome zingelashwa kahle kakhulu. Ziphila impilo evamile. Zingafunda kahle, zidlale kahle, futhi ziphile njengabantu abadala abazimele.
• Izinhlobo 2 no-3 ziyinkimbinkimbi kakhulu. Lezi zingane zibhekene nezinselele eziningi ngokunyakaza, ukuphefumula, kanye nokusebenza kwengqondo. Izinkinga zokuphefumula nezezinzwa zinganciphisa isikhathi sokuphila kwazo. Kodwa-ke, ngokwelashwa okuqhubekayo nokusekelwa, ikhwalithi yokuphila kwazo ingathuthukiswa.