Ingabe ingane yakho encane inamabala amakhulu abomvu emzimbeni wayo? Ake sifunde nge-PHACE Syndrome.

Bomama nobaba, ningase nikhathazeke futhi nesabe uma nibona amabala amakhulu abomvu noma amaqhubu amancane emzimbeni wengane yenu, ngezinye izikhathi ebusweni nasentanyeni. Ngezinye izikhathi lezi yizinto nje ezizophola, kodwa akuvamile, ukuthi zibe uphawu lwesimo esingavamile nesiyinkimbinkimbi njenge -PHACE Syndrome . Ngakho-ke, ngaphandle kokuchitha isikhathi, ake sixoxe ngokuningiliziwe ngokuthi iyini i-PHACE Syndrome, ukuthi iyini imbangela, nokuthi yini okufanele siyenze uma kuyinto efana naleyo.

Iyini i-PHACE Syndrome?

Kulungile, ake siqale sibone ukuthi iyini i-PHACE syndrome. Kalula nje, yisimo esingavamile kakhulu. Lokho kusho ukuthi akwenzeki kuwo wonke umuntu. Yisimo sokuzalwa esikhona lapho umntwana ezalwa. Lokho kusho ukuthi senzeka ngesikhathi umntwana esesesibelethweni. Lesi simo singathinta izingxenye ezahlukene zomzimba womntwana. Sithinta kakhulu isikhumba, ubuchopho, inhliziyo, imithambo emikhulu kanye namehlo .

Esikhathini esiningi, kuba neziphambeko ezimbalwa kuphela kulezi zindawo. Ezinye izingane zingase zibonise izimpawu ezimbalwa kuphela ezibalwe ngezansi. Izimo ezivame kakhulu ezibonakala ezinganeni ezine-PHACE syndrome yi- hemangiomas , iziphambeko ze-cerebrovascular , kanye neziphambeko zenhliziyo . Lokhu kungabonakala ngesikhathi sokukhulelwa, ekuzalweni, noma ebuntwaneni.

I-PHACE empeleni isifinyezo sezinkinga eziningana ezahlukene. Ichaza ukuphazamiseka okukhulu kokukhula okuhlobene nalesi sifo. Ngezinye izikhathi ibizwa ngokuthi i-PHACES syndrome. I-'S' eyengeziwe imele ukuqhekeka kwe-sternal . Lokhu kusho ukuthi ithambo eliphakathi kwesifuba, i -sternum, alakhiwe kahle, noma kukhona iphutha elithile kuyo.

Ziyini izimpawu ze-PHACE syndrome?

Ngakho-ke, yiziphi izimpawu zengane ene-PHACE syndrome? Lokhu kungahluka kuye ngengane. Ezinye izingane zinezimpawu ezimbalwa, ezinye zineziningi. Futhi ubukhulu bezimpawu buyahlukahluka kuye ngengane. Ake sibone ukuthi yiziphi izimpawu eziyinhloko:

• Ama-hemangioma: Lawa amaqhubu abonakalayo, anombala ohlukile esikhumbeni. Empeleni akhiwa ukukhula kwemithambo yegazi eyengeziwe . Avame ukubonakala ekhanda, ebusweni, entanyeni, emzimbeni nasezingalweni. Ngokuvamile makhulu kakhulu futhi angasakazeka. Kodwa-ke, ngezinye izikhathi la ma-hemangioma angathinta nezitho zangaphakathi zengane. Uma lokhu kwenzeka, kungase kube nezinkinga zokubona nokuzwa.

• Ukukhubazeka kobuchopho:I-posterior fossa yindawo yobuchopho elawula imisebenzi ebalulekile njengokulinganisela, ukuxhumanisa, nokuphefumula. Uma kukhona okungajwayelekile kule ndawo, ingane ingaba nokunyakaza okungazikhetheli kanye nokukhubazeka kwengqondo . Kungase kube nezinguquko esakhiweni sobuchopho uqobo.

• Ukukhubazeka kwenhliziyo: Ezinye izinkinga zenhliziyo zingabangela izimpawu ezifana nokuphelelwa umoya , ubuthakathaka bemisipha , umfutho wegazi ophakeme , ukukhathazeka njalo, nokujuluka. Ngezinye izikhathi, inhliziyo yengane ayikakhuli ngokugcwele, futhi kungase kube nembobo phakathi kwamakamelo enhliziyo (i-ventricular septal defect) . Noma, kungase kube nokuncipha kwe-aorta (ukuhlangana kwe-aorta).

• Ukukhubazeka kwemithambo: Uma imithambo ethwala igazi ebuchosheni nasentanyeni inciphile noma inezinye izinkinga, ubuchopho bungase bungatholi igazi elanele. Lokhu kungaholela ezimweni eziyingozi ezifana ne -aneurysms , ukuxhuzula , isifo sohlangothi , noma ukulahlekelwa umuzwa ohlangothini olulodwa lomzimba.

• Ukukhubazeka kwamehlo: Amehlo engane, izinzwa zamehlo, noma imithambo yegazi emehlweni kungenzeka ukuthi ayikhulanga kahle. Lokhu kungabangela ukubona okungekuhle, ukulahlekelwa umbono , amehlo amancane ngendlela engavamile , ukunyakaza kwamehlo okungalawuleki, noma amehlo agobile .

• Ukukhubazeka kwamathambo esifuba: Njengoba kushiwo ngaphambili, ithambo lesifuba (i-sternum) eliphakathi kwesifuba somntwana lingase lingabi khona noma lingakhuli kahle. Lokhu kungabangela ukuqhekeka, amaqhubu, kanye nemigodi kuleyo ndawo.

Izinkinga ezingaba khona ze-PHACE syndrome

Izingane ezine-PHACE syndrome zinamathuba amaningi okuthola izinkinga ezithile ngenxa yalezi zimo ezingavamile ekwakhekeni komzimba wazo kanye nemithambo yegazi. Nakhu ukuthi ziyini:

• Izinkinga zebhalansi
• Izinkinga zamazinyo, isibonelo , i-enamel hypoplasia kanye nokukhubazeka kwezimpande zamazinyo.
• Ubunzima bokugwinya
• Ukukhubazeka kwesistimu ye-endocrine . Isibonelo, ukwehla kokusebenza kwe-thyroid kanye nokwehla kokukhiqizwa kwama-hormone.
• Ubuhlungu bekhanda obuhlala bukhona, ngezinye izikhathi i-migraines .
• Ukukhula okubi
• Ukulibaziseka kwenkulumo nolimi
• Ingozi eyengeziwe yokushaywa yisifo sohlangothi .
• Izitho zokuzala ezingakakhuli kahle

Yini ebangela i-PHACE syndrome?

Abacwaningi abakakazi kahle ukuthi kungani ezinye izingane ziba ne-PHACE syndrome. Izifundo ziphakamisa ukuthi kungenzeka ukuthi ibangelwa yizici zofuzo kanye nezemvelo. Kodwa-ke, ukushintshashintsha kwezakhi zofuzo okubangela lokhu akukacaci. Abanye ochwepheshe bakholelwa ukuthi ibangelwa ushintsho lwezakhi zofuzo olungahleliwe (de novo) olwenzeka ngesikhathi sokukhulelwa. Lokhu kusho ukuthi ngokuvamile aluzuzwa njengefa kubazali.

Itholakala kanjani i-PHACE syndrome?

Kulungile, pho odokotela bayixilonga kanjani i-PHACE syndrome? Ngokuvamile, udokotela uzokwenza ukuhlolwa okuphelele komzimba futhi enze ukuhlolwa okuthile. Banezindlela ezithile zokuxilonga , eziyiqoqo leziqondiso. Yileyo ndlela abanquma ngayo ukuthi ingane inayo yini i-PHACE syndrome.

Ngezinye izikhathi, odokotela bangathola umbono wesimo ngokuskena onakho ngesikhathi ukhulelwe. Kodwa ngezinye izikhathi, kungase kungabonakali kuze kube yilapho ingane isizelwe, noma kamuva ebuntwaneni.

Ngokuvamile, udokotela uzoqala afune i -hemangioma enkulu emzimbeni wengane, ikakhulukazi ebusweni, entanyeni, noma ekhanda. Ukuba khona kwe-hemangioma eyodwa kanye nesinye isici esibalulekile okungenani esisodwa esihlobene ne-PHACE kungase kwanele ekuxilongweni.

Ngaphezu kwalokho, kungenziwa izivivinyo eziningana ukuze kubhekwe eduze ubuchopho bomntwana, inhliziyo, imithambo yegazi kanye namehlo. Lezi yizivivinyo ezivame ukwenziwa:

• Ukuskena kwe-CT
• I-Echocardiograms - Lokhu kubheka isakhiwo kanye nomsebenzi wenhliziyo.
• Ukuhlolwa kwamehlo – ngudokotela wamehlo.
• Ukuhlolwa kokuzwa
• Ukuskena kwe-MRI - Thatha izithombe ezinemininingwane, ikakhulukazi zobuchopho nemithambo yegazi.
• Ukuskena nge-ultrasound

Iphathwa kanjani i-PHACE syndrome?

Uma welapha i-PHACE syndrome, ukugxila okuyinhloko ukuvimbela izinkinga ezingaba khona nokusiza ingane ukuthi iphile kahle nezimpawu zayo. Izindlela zokwelapha ziyahlukahluka kuye ngokuthi yiziphi izitho noma izingxenye zomzimba ezithinteka yilesi simo.Lokho kusho ukuthi akuzona zonke izingane ezithola ukwelashwa okufanayo.

Lolu hlobo lokwelashwa luvame ukwenziwa:

• Ukwelashwa nge-laser kwama -hemangioma esikhumbeni, noma ukubanika imithi (isib., ama-beta-blockers njenge-propranolol) ukuze bancishiswe.
• Ukunikeza imfundo ekhethekile , ukwelashwa kokukhuluma, kanye ne-physiotherapy ukusiza ekufundeni esikoleni.
• Ngezinye izikhathi ukuhlinzwa kuyadingeka ukuze kulungiswe amaphutha enhliziyweni, emithanjeni yegazi, noma ebuchosheni.
• Ukunikeza imithi ehlukahlukene yokulawula isifo sokuwa, ikhanda elibuhlungu, kanye nokungalingani kwama-hormone.
• Ukuhlinzeka ngamadivayisi asekelayo okulahlekelwa ukuzwa kanye nezibuko zokulahlekelwa ukubona.

Imindeni eminingi ikhuluma nomeluleki wezakhi zofuzo ukuze ifunde kabanzi ngezinketho zokwelapha zengane yayo, kanye nendlela yokuyisiza njengoba ikhula. Lokhu kungaba usizo kakhulu.

Ingabe lokhu kungavinjelwa?

Ngeshwa, ayikho indlela yokuvimbela i-PHACE syndrome. Ngenxa yokuthi imbangela eqondile ayaziwa, akukho ongakwenza ukunciphisa ingozi yokuba nengane enalesi simo.

Kodwa uma ufuna ukwazi okwengeziwe ngamathuba akho okuba nengane enesifo sofuzo, ungakhuluma nodokotela wakho mayelana nokuhlolwa kofuzo .

Kwenzekani uma ingane yami ine-PHACE syndrome? Yini okufanele uyilindele?

Uma ingane yakho inalesi simo, kuzodingeka ihlolwe njalo nodokotela wayo oyinhloko kanye nochwepheshe emikhakheni ehlukahlukene (isib., udokotela wenhliziyo, udokotela wezinzwa, udokotela wamehlo) ukuqinisekisa ukuthi izimpawu zayo azithinti ikhwalithi yempilo yayo. Lesi yisimo esidinga ukuphathwa isikhathi eside.

Lesi simo singathinta hhayi ingane kuphela, kodwa nawe kanye nomndeni wonke. Ngakho-ke, kubaluleke kakhulu ukucabanga ngempilo yakho yengqondo. Abanye abantu bathola impumuzo enkulu namandla ngokukhuluma nochwepheshe wezempilo yengqondo .

Ngakho-ke lingakanani isikhathi sokuphila somuntu onalesi simo? Kuncike kakhulu ekutheni izimpawu zengane zimbi kangakanani nokuthi lesi sifo sithinte ziphi izitho zomzimba.

Izingane ezinomonakalo omkhulu wobuchopho nenhliziyo cishe ziphila isikhathi esifushane. Kodwa-ke, uma ingane inezimpawu ezincane futhi ziphathwa kahle, ingaphila impilo evamile.

Kufanele ubonane nini nodokotela?

Uma ingane yakho inanoma yikuphi kwalokhu okulandelayo, qiniseka ukuthi ubona udokotela:

• Uma unenkinga yokudla noma ukuphuza
• Uma ingane ingahlangabezani nezigaba zokukhula ezifanele iminyaka yayo, okungukuthi, uma ikhula sekwephuzile (isib., ukungaphakamisi intamo yayo ngesikhathi, ukungahambi, ukungakhulumi).
• Uma ungaphenduli ezintweni ngokubona, okungukuthi, uma ubona into engavamile emehlweni akho.
• Uma ubona ibala elikhulu, eliyisicaba, elibomvu emzimbeni wakho (njenge-hemangioma).

Kufanele uyiyise nini ingane yakho esibhedlela ngokushesha?

Uma ubona into efana nale, thatha ingane yakho uyise ekamelweni lezimo eziphuthumayo eliseduze ngokushesha , noma ushayele u-1990:

• Uma ubonisa izimpawu zesifo sohlangothi (isib. ukugoba okungazelelwe kolunye uhlangothi lobuso, ukulahlekelwa ukusebenza kwengalo, ukungakwazi ukukhuluma).
• Uma unesifo sokuwa.
• Uma unenkinga yokuphefumula, uma uzizwa sengathi uyacinana.
• Uma ukushaya kwenhliziyo kungahambi kahle, noma uma umntwana ephenduka abe luhlaza okwesibhakabhaka.

Imibuzo okufanele uyibuze udokotela/uNkk.

Ungabuza udokotela wengane yakho noma umhlengikazi imibuzo efana nale. Lokhu kuzokusiza uqonde isimo:

• Ingabe ingane yami ine-PHACE syndrome ngempela? Ingabe kudingeka ngenze ezinye izivivinyo ukuze ngiyiqinisekise?
• Ingabe ingane yami idinga ukuhlinzwa ? Uma kunjalo, kungani futhi nini?
• Ingabe ikhona indlela yokwelapha i-hemangioma yengane yami? Ingabe izophulukiswa ngokuphelele?
• Ingabe ikhona imiphumela emibi kulezi zindlela zokwelapha? Iyini?
• Yiziphi izinto okudingeka siziqaphele kakhulu ngengane?
• Impilo yengane yami izohlala kanjani?
• Ingabe ingane izokwazi ukuphila impilo evamile enalesi simo?

Ekugcineni, kukhona okufanele ukukhumbule

Uma uthola ukuthi ingane yakho inesifo esingavamile futhi ungazi okuningi ngaso, ungazizwa ushaqekile kakhulu, udabuke, futhi wesaba. Kunzima kakhulu ukukukholwa. Lokhu kungaba nomthelela omkhulu ngokomzwelo kuwe nasemndenini wakho.

Ezinye izingane ziphila kahle zize zibe ngabantu abadala zinalesi simo. Kodwa-ke, kwabanye, isikhathi sokuphila singancishiswa ngenxa yezimpawu ezinzima. Ukujoyina iqembu lokusekelana, noma ukukhuluma nomeluleki wezakhi zofuzo noma uchwepheshe wezempilo yengqondo , kungaba umthombo omkhulu wenduduzo namandla kuwe nomndeni wakho phakathi nalesi sikhathi. Ngakho-ke ungangabazi ukuthola lolo sizo.

Khumbula, awuwedwa. Kukhona odokotela, abahlengikazi, nabanye abaningi abangakusiza ukubhekana nalezi zinselele, balalele imibuzo yakho, futhi bakunikeze ulwazi oludingayo. Ngakho-ke, hlala uqinile futhi uzame ukunikeza ingane yakho okungcono kakhulu ekudingayo.

I- PHACE syndrome, i-hemangioma, izifo zokuzalwa, ukukhubazeka kobuchopho, ukukhubazeka kwenhliziyo, ukukhubazeka kwemithambo yegazi, ukukhubazeka kwamehlo, izifo zofuzo, izifo ezingavamile, impilo yengane