Konke Okufanele Ukwazi Nge-Proteus Syndrome

-Delile

• Uthi bewazi?
• Izimpawu ze-Proteus syndrome
• Izimbangela ze-Proteus syndrome
• Ukuhlonza i-Proteus syndrome
• Ukwelashwa kwe-Proteus syndrome
• Izinkinga zalesi sifo
• Umbono

Ukubuka konke

I-Proteus syndrome yisimo esingavamile ngokweqile kodwa esingapheli, noma sesikhathi eside. Kubangela ukugcwala kwesikhumba, amathambo, imithambo yegazi, nezicubu ezinamafutha nezithintekayo. Lokhu kukhula ngokweqile imvamisa akuwona umdlavuza.

Ukudlulela ngokweqile kungaba mncane noma kube nzima, futhi kungathinta noma iyiphi ingxenye yomzimba. Izitho, umgogodla nogebhezi kuthinteka kakhulu. Ngokuvamile azibonakali ekuzalweni, kodwa ziba nokuqapheleka kakhulu lapho zineminyaka yobudala eyisithupha kuya kwezingu-18. Ukushiywa kungalashwa, ukugcwala ngokweqile kungaholela ezinkingeni ezinkulu zempilo nokuhamba.

Kulinganiselwa ukuthi bangaphansi kwabantu abangama-500 emhlabeni wonke abane-Proteus syndrome.

Uthi bewazi?

IProteus syndrome yathola igama layo kunkulunkulu wamaGrikhi uProteus, owayezoshintsha ukuma kwakhe ukuze angabanjwa. Kuyacatshangwa futhi ukuthi uJoseph Merrick, obizwa ngeNdlovu Indoda, wayeneProteus syndrome.

Izimpawu ze-Proteus syndrome

Izimpawu zivame ukwehluka kakhulu kusuka komunye umuntu ziye komunye futhi zingafaka:

• ukukhula ngokweqile, njengolunye uhlangothi lomzimba olunezitho ezinde kunezinye
• izilonda eziphakanyisiwe, ezinesikhumba esingahle zibe nokubukeka okuxakile, okunemifantu
• umgogodla ogobile, obizwa nangokuthi i-scoliosis
• ukukhuluphala okunamafutha, imvamisa esiswini, ezingalweni nasemilenzeni
• izicubu ezingenasifo somdlavuza, ezivame ukutholakala kumaqanda, nolwelwesi olumboza ubuchopho nomgogodla
• imithambo yegazi engalungile, okwandisa ubungozi bamahlule egazi asongela impilo
• ukungasebenzi kahle kwesistimu yezinzwa emaphakathi, engadala ukukhubazeka kwengqondo, nezici ezinjengobuso obude nekhanda elincane, amajwabu amehlo alengayo namakhala abanzi
• amaphakethe esikhumba aqine ematheni ezinyawo

Izimbangela ze-Proteus syndrome

I-Proteus syndrome yenzeka ngesikhathi sokukhula komntwana. Kubangelwa yilokho ochwepheshe abakubiza ngokuthi ukuguquka, noma ukuguqulwa unomphela, kofuzo AKT1. I- AKT1 ufuzo lusiza ukulawula ukukhula.

Akekho owaziyo ngempela ukuthi kungani lokhu kuguquka kwenzeka, kepha odokotela basola ukuthi akuhleliwe futhi akulona ifa. Ngalesi sizathu, i-Proteus syndrome ayisona isifo esidluliselwa kusuka kwesinye isizukulwane kuya kwesinye.IProteus Syndrome Foundation igcizelela ukuthi lesi simo asibangelwa yinto eyenziwe ngumzali noma angayenzanga.

Ososayensi nabo bathole ukuthi ukuguqulwa kwezakhi zofuzo kuyimidwebo yomusa. Lokho kusho ukuthi kuthinta amanye amaseli emzimbeni kepha hhayi amanye. Lokhu kusiza ukuchaza ukuthi kungani uhlangothi olulodwa lomzimba lungathinteka hhayi kolunye, nokuthi kungani ubukhulu bezimpawu bungahluka kakhulu kusuka komunye umuntu kuye komunye.

Ukuhlonza i-Proteus syndrome

Ukuxilongwa kungaba nzima. Lesi simo asivamile, futhi odokotela abaningi abasazi. Isinyathelo sokuqala udokotela angathatha ukuthatha i-biopsy isimila noma izicubu, bese uvivinya isampula lokuba khona kwe-mutated AKT1 isakhi sofuzo. Uma kutholakala eyodwa, ukuhlolwa kwe-screening, okufana ne-X-ray, i-ultrasound, kanye ne-CT scan, kungasetshenziselwa ukubheka izixuku zangaphakathi.

Ukwelashwa kwe-Proteus syndrome

Alikho ikhambi le-Proteus syndrome. Ukwelashwa ngokuvamile kugxile ekunciphiseni nasekulawuleni izimpawu.

Lesi simo sithinta izingxenye eziningi zomzimba, ngakho-ke ingane yakho ingadinga ukwelashwa kodokotela abaningana, kufaka phakathi okulandelayo:

• isazi senhliziyo
• udokotela wesikhumba
• i-pulmonologist (uchwepheshe wamaphaphu)
• udokotela wamathambo (udokotela wethambo)
• owelapha ngokomzimba
• udokotela wezifo zengqondo

Kunganconywa ukuhlinzwa kokukhipha ukwanda kwesikhumba kanye nezicubu ezeqile. Odokotela futhi bangaphakamisa ukuthi ngokuhlinzwa kususwe amapuleti wokukhula ethanjeni ukuvimbela ukukhula ngokweqile.

Izinkinga zalesi sifo

I-Proteus syndrome ingadala izinkinga eziningi. Ezinye zingasongela impilo.

Ingane yakho ingahle ibe nezindimbane ezinkulu. Lokhu kungalimaza futhi kuholele ezindabeni ezinzima zokuhamba. Izicubu zingacindezela izitho nezinzwa, okuholele ezintweni ezinjengephaphu eliwohlokile kanye nokulahlekelwa umuzwa emlenzeni. Ukwanda kwethambo nakho kungaholela ekulahlekelweni kokuhamba.

Ukukhula kungadala nezinkinga zezinzwa ezingathinta ukukhula kwengqondo, futhi kuholele ekulahlekelweni kombono nokuquleka.

Abantu abane-Proteus syndrome bathambekele kakhulu kwi-vein thrombosis ngoba ingathinta imithambo yegazi. I-deep vein thrombosis yisigaxa segazi esivela emithanjeni ejulile yomzimba, imvamisa emlenzeni. Ihlule lingagqashula lihambe umzimba wonke.

Uma iqhwa lihlangana emthanjeni wamaphaphu, obizwa ngokuthi yi-pulmonary embolism, lingavimba ukugeleza kwegazi futhi liholele ekufeni. I-pulmonary embolism iyimbangela ehamba phambili yokufa kubantu abane-Proteus syndrome. Ingane yakho izobhekwa njalo ngamahlule egazi. Izimpawu ezivamile ze-pulmonary embolism yilezi:

• ukuphelelwa umoya
• ubuhlungu besifuba
• ukukhwehlela kwesinye isikhathi okungaletha amafinyila agcwele igazi

Umbono

I-Proteus syndrome yisimo esingajwayelekile kakhulu esingahluka ngobukhulu. Ngaphandle kokwelashwa, lesi simo siyoba sibi ngokuhamba kwesikhathi. Ukwelashwa kungafaka ukuhlinzwa nokwelashwa ngokomzimba. Ingane yakho nayo izobhekwa ngamahlule egazi.

Isimo singathinta ikhwalithi yempilo, kepha abantu abane-Proteus syndrome bangakhula ngokweminyaka ngokungenelela kwezokwelapha nokuqapha.