Ingabe ezinye izingxenye zomzimba ziba zinkulu ngendlela engavamile? Ake sixoxe nge-Proteus Syndrome

Wake wambona noma wezwa ngomuntu onezingxenye zomzimba wakhe - ake sithi, ingalo noma umlenze - ezikhula kakhulu futhi zibe nkulu kakhulu kunezinye? Noma isikhumba kwezinye izindawo siba sikhulu futhi sibukeke njengezigaxa ezingavamile? Lesi yisimo esingavamile kakhulu. Namuhla sizokhuluma ngesimo esingavamile kancane, kodwa kubaluleke kakhulu ukuthi wonke umuntu asiqaphele. Sibizwa ngokuthi i-Proteus Syndrome.

Iyini i-Proteus Syndrome?

Kalula nje, i-Proteus Syndrome iyisimo esingavamile kakhulu sofuzo . Sibangela ukuba amathambo omzimba wakho, isikhumba, izitho zangaphakathi, noma izicubu zikhule ngokweqile . Okubalulekile, lokhu kukhula kuvame ukungalingani . Lokhu kusho ukuthi izinhlangothi zomzimba zesokudla nesobunxele zithinteka ngendlela ehlukile. Uhlangothi olulodwa lungaba lukhulu, kanti olunye uhlangothi lungase lube olujwayelekile.

Lokhu kubizwa ngokuthi "iProteus", kwakukhona unkulunkulu wasendulo wamaGreki ogama lakhe lingu "Proteus", owayengashintsha abe yinoma yisiphi isimo. Lesi sifo sishintsha nesimo somzimba, ngakho sathola igama laso.

Usana olusanda kuzalwa ngokuvamile alubonisi zimpawu zalesi simo. Lokhu kukhula okungavamile kuqala phakathi kwezinyanga eziyi-6 neziyi-18 ubudala . Kube sekukhula ngokushesha phakathi neminyaka eyi-10 yokuqala yokuphila futhi kungaba nzima kakhulu njengoba lukhula. Ngaphezu kwezinguquko ekubukekeni komzimba, abanye abantu bangase babe nezinkinga zezinzwa. Abantu abane-Proteus syndrome nabo banengozi enkulu yokuqhekeka kwegazi kanye nezimila ezingezona umdlavuza .

Ubani ongakuthola lokhu? Kuvamile kangakanani?

I-Proteus syndrome ingathinta noma ubani, kodwa ezinye izifundo zibonise ukuthi ivame kakhulu kwabesilisa kunabesifazane.

Lesi yisimo esingavamile kakhulu . Sithinta abantu abangaphansi koyedwa kwabayisigidi emhlabeni jikelele. Ngenxa yokuthi asivamile, futhi ngenxa yokuthi kunezinye izimo ezibonisa ukukhula okungalingani, kunzima ukusixilonga ngokunembile. Ngakho-ke, kunzima ukusho ukuthi bangaki abantu abanaso ngempela. Odokotela bakholelwa ukuthi abanye abantu abakaxilongwa, kanti abanye baxilongwe kabi. Kodwa-ke, kukholelwa ukuthi abantu abangaphansi kwekhulu emhlabeni wonke banalesi simo.

Ziyini izimpawu? Uzibona kanjani?

Izimpawu zokuqala ze-Proteus syndrome zivame ukuvela phakathi kweminyaka eyi-6 neyi-18 . Yilapho iphethini yokukhula engalingani okukhulunywe ngayo ekuqaleni iqala khona. Iphethini yalokhu kukhula kanye nobunzima bayo kungahluka kakhulu kumuntu nomuntu. Kungathinta noma iyiphi ingxenye yomzimba, okuhlanganisa amathambo, isikhumba, izitho zomzimba kanye nezicubu. Lesi simo siqhubeka ngokushesha phakathi neminyaka eyishumi yokuqala yokuphila.

### Izinguquko emathanjeni:

Amathambo ezingalweni zakho, emilenzeni, ekhanda, nasemgogodleni angase akhule ngokungajwayelekile.

• Izingalo nemilenze kungakhula kube nobude obuhlukene kakhulu . Cabanga ngengalo eyodwa inde kunenye, noma ubude bemilenze yakho buhlukile.
• Ukugoba okukhulu komgogodla (i-scoliosis) kungenzeka.
• Ngokuhamba kwesikhathi, lokhu kukhula okungavamile kungabangela ukuthi amalunga angakwazi ukusebenza kahle.

### Izinguquko zesikhumba:

I-Proteus syndrome ingabangela ukukhula okungavamile esikhumbeni.

• Kwezinye izindawo, isikhumba siyaqina futhi sikhuphuke, sakhe iqhubu eligoqekile elifana nobuso bobuchopho. Lokhu kubizwa ngokuthi i-cerebriform connective tissue nevus .
• Lokhu kuvame ukubonakala ezinyaweni , kodwa ngezinye izikhathi kungavela ezandleni.

Lolu hlobo lwesigaxa sesikhumba luhlukile kangangokuthi alubonakali kunoma yisiphi esinye isimo sezokwelapha.

### Imithambo yegazi kanye nezicubu zamafutha:

• Kungase kube nokukhula okungavamile kwemithambo yegazi yakho, okungukuthi ama-capillary kanye nemithambo yegazi.
• Izicubu zamafutha zingakhula ngokweqile, okubangela ukuba amafutha amaningi aqongeleleke ezindaweni ezifana nesisu, izingalo nemilenze.
• Ngokuvamile, izimila ezinamafutha (ama-lipomas) ezingezona umdlavuza zingavela.

### Izinkinga zesimiso sezinzwa:

Abanye abantu abane-Proteus syndrome nabo babhekana nezinkinga ohlelweni lwezinzwa.

• Ukukhubazeka kwengqondo.
• Izimo zesifo sokuwa `(Ukuquleka)`.
• Ukulahlekelwa umbono.

### Izinguquko ekubukekeni kobuso:

I-Proteus syndrome ingabangela ezinye izici zobuso ezihlukile.

• Ubuso obude.
• Amakhona angaphandle amehlo abonakala egobile.
• Ibhuloho lekhala eliyisicaba kanye namakhala abanzi.
• Kufana nokuvula umlomo wakho.

Yiziphi izinkinga eziyingozi ezingase zivele ngenxa yalokhu?

Inkinga esongela kakhulu impilo ye-Proteus syndrome yi- deep vein thrombosis (DVT), i-blood clot emithanjeni ejulile . I-DVT ivame ukuthinta imithambo ejulile yemilenze noma izingalo, okubangela ubuhlungu nokuvuvukala.

Uma le 'DVT' ihamba ngegazi iye emaphashini, ingabangela isimo esiyingozi esibizwa ngokuthi 'i-Pulmonary Embolism'. I-Pulmonary embolism iyimbangela evame kakhulu yokufa kubantu abane-Proteus syndrome.

I-Proteus Syndrome ikhula kanjani? Ingabe ibangelwa izakhi zofuzo?

Isizathu salokhu ushintsho (ukuguqulwa) ku-gene ebizwa ngokuthi `AKT1`.. I-gene ye-`AKT1` isiza ukulawula ukukhula nokuhlukana kwamaseli. Lapho le gene iguquguquka, iseli lilahlekelwa amandla alo okulawula ukukhula kwalo. Lokhu kubangela ukuthi iseli likhule futhi lihlukane ngendlela engavamile. Yilokhu okubangela ukukhula ngokweqile okubonakala ku-Proteus syndrome.

Into ebalulekile ukuthi i-Proteus syndrome ayisona isifo esizuzwa njengefa. Lokhu kuguquka kwezakhi zofuzo kwenzeka ngemva kokukhulelwa kwe-embryo, okubizwa ngokuthi i-somatic mutation . Lokhu kuguquka kwenzeka ngengozi engqamuzaneni elilodwa le-embryo ekhulayo ekuqaleni kokukhulelwa. Njengoba leli seli eliguquliwe likhula futhi lihlukana, amanye amangqamuzana analokhu kuguquka kanti amanye awanakho. Lokhu kubizwa ngokuthi i-mosaic gene alteration . Kufana nesithombe esenziwe ngezingcezu zemibala ehlukene. Njengoba ukuguqulwa kwezakhi zofuzo 'ze-AKT1' kuthinta kuphela amanye amangqamuzana emzimbeni, lesi sifo sithinta nengxenye yomzimba kuphela.

Odokotela bakuthola kanjani lokhu?

Udokotela wakho uzokwenza ukuhlolwa ngokomzimba ukuze axilonge i-Proteus syndrome. Bazosebenzisa nohlu olukhethekile lwezimpawu eziqondene nalesi simo. Ukuze udokotela acabangele lokhu kuxilongwa, kumele kube nezimpawu ezintathu ezivamile. Lezi yilezi:

• Ukusatshalaliswa kwe-mosaic : Lokhu kusho ukuthi ukukhula kusabalale endaweni ebanzi yomzimba. Ezinye izingxenye zomzimba zinezimila, kanti ezinye azinazo.
• Ukwenzeka okungahleliwe : Lokhu kusho ukuthi akekho omunye emndenini wakho onalezi zimpawu.
• Indlela eqhubekayo : Lokhu kusho ukuthi ngokuhamba kwesikhathi, ukubonakala kwezitho zomzimba ezithintekile kushintshe kakhulu ngenxa yalokhu kukhula ngokweqile.

Ngaphezu kwalokhu, udokotela wakho uzobheka ezinye izimpawu ezithile. Ukuze utholakale une-Proteus syndrome, kumele ube nezimpawu ezithile ezivela kuzo zonke izigaba ohlwini lokuhlola lukadokotela.

### Hlobo luni lokuhlolwa okwenziwayo?

Ukuguquka kwezakhi zofuzo okubangela i-Proteus syndrome akukho kuwo wonke amaseli emzimbeni. Ngakho-ke, ukuhlolwa kwezakhi zofuzo kungaba nzima kancane. Lokhu kungenxa yokuthi ukuguqulwa kwezakhi zofuzo kungase kungabikho kusampula yegazi, noma kungase kube khona ngamanani amancane kakhulu.

Kodwa-ke, odokotela bangayithola le gene eguquliwe ngokuthatha isampula encane yezicubu zakho ezithintekile (i-biopsy) bese beyihlola (ukuhlolwa kwe-DNA) . I-DNA evela kuleyo sampula isetshenziselwa ukuthola i-gene eguquliwe.

Ingabe ikhona indlela yokwelapha lokhu? Ingabe ingelapheka?

Ngeshwa, ayikho ikhambi le-Proteus syndrome . Ukwelashwa kugxile ekuphatheni izimpawu zakho ezithile. Kuzodingeka usebenzisane nethimba lochwepheshe ukuze likusize ngezidingo zakho zezokwelapha.

• Udokotela ohlinza amathamboYelapha izinkinga ngamathambo akho. Kunezindlela zokwelapha ezahlukahlukene zokunciphisa ukukhula kwamathambo ngokweqile ezandleni, ezinyaweni, kanye naseminweni. Zingalungisa nezinkinga zomgogodla kanye namalunga. Ngaphambi kwanoma yikuphi ukuhlinzwa, uzohlolwa udokotela wegazi ukuze ahlole ingozi yakho yokuqhekeka kwegazi.
• Kungase kudingeke ukuthi ubonane nodokotela wesikhumba ukuze uthole ukuthi kukhona yini i-sebum eningi kanye noshintsho lwesikhumba. Ezinye izinkinga zingadinga ukwelashwa okusheshayo nokuvamile. Kwezinye izinkinga, udokotela wakho angase athathe indlela "yokulinda bese ubona". Okusho ukuthi, bazoqapha isimo sakho ngaphambi kokuncoma noma yikuphi ukwelashwa okuthile.

Abanye abahlinzeki bezempilo abangase bahileleke ekunakekelweni kwakho bahlanganisa:

• Uchwepheshe kwezokwelapha ngokuvuselela (udokotela wezifo zabesifazane)
• Udokotela ochwepheshe bezifo zokuphefumula (i-Pulmonologist)
• Udokotela wezokwelapha ngokomzimba
• Umeluleki wezokwelapha emsebenzini
• Umuntu owenza izicathulo ezikhethekile kanye nezisekeli zezinyawo (Pedorthist)

Ososayensi basanda kuthola i-gene ebangela i-Proteus syndrome, engaholela ekuthuthukisweni okukhulu kwemithi emisha kanye nezinye izindlela zokwelapha.

Ingabe ikhona indlela yokuvimbela lokhu?

Cha, i-Proteus syndrome ayinakuvinjelwa. Lokhu kungenxa yokuthi iyisimo sofuzo. Ukuguquka kwezakhi zofuzo okubangela lokhu kuyisenzakalo esingahleliwe ngesikhathi sokukhula kwengane. Akubangelwa yinoma yini eyenzeka ngaphambi noma ngesikhathi sokukhulelwa. Ngakho ungakhathazeki ngakho.

Injani impilo elindelekile?

Isikhathi sokuphila somuntu one-Proteus syndrome sincike kakhulu ezingxenyeni zomzimba ezithintekile kanye nobunzima besimo. Izinkinga zingaba yingozi empilweni , futhi zingabangela ukufa kakhulu kunesifo uqobo. Lezi zinkinga zingafaka phakathi i-deep vein thrombosis (DVT), i-pulmonary embolism, kanye nomdlavuza. I-pulmonary embolism iyimbangela evame kakhulu yokufa kubantu abane-Proteus syndrome.

Sekukonke, cishe abantu abangu-25% abane-Proteus syndrome bafa ngaphambi kokuba bafinyelele eminyakeni engu-22. Kodwa-ke, labo abanezimpawu ezincane ngokuvamile baphila isikhathi eside uma bethola ukwelashwa okuphumelelayo.

Ungaphila kanjani ne-Proteus Syndrome?

Ukuphila nezinguquko zomzimba ezibangelwa yi-Proteus syndrome kungaba yinto ekhungathekisayo futhi enzima kakhulu. Kubalulekile ukuthi wena nomndeni wakho nifunde okuningi ngangokunokwenzeka ngalesi simo.Ukukhuluma nabanye abantu ababhekene nalesi sifo nokulalela okuhlangenwe nakho kwabo kungakusiza uzizwe sengathi awuwedwa nokuthi kunabantu abakuqondayo. Buza udokotela wakho ngezinsiza ezingakusiza ukuthi uphathe futhi ubhekane nesimo sakho.

Ukuthola ukuthi wena noma ingane yakho ninesifo esingavamile sofuzo kungaba yinto eyesabekayo nebuhlungu. Kungaba nzima kakhulu uma lesi simo sibangela izinguquko ezinkulu emzimbeni. Ngakho-ke, kubalulekile ukuthola udokotela ongakwazi ukuxilonga ngokunembile i-Proteus syndrome futhi ahlanganise ithimba lochwepheshe. Ngokwelashwa okufanele, abantu abaningi baphila isikhathi eside. Kubalulekile futhi ukuthola iqembu labantu abangakusekela njengoba ubhekene nalesi sifo esinzima.

Khumbula into ebaluleke kakhulu (Umyalezo Wokuya Ekhaya)

• I-Proteus syndrome iyisimo esingavamile kakhulu sezakhi zofuzo esibonakala ngokukhula okungalingani, okweqile kwezingxenye ezithile zomzimba.
• Lokhu akulona ifa . Kubangelwa ukuguquka kwezakhi zofuzo okungahleliwe okwenzeka ngesikhathi sokukhulelwa.
• Izimpawu zingahluka kakhulu kumuntu nomuntu.
• Nakuba kungekho ukwelashwa okuphelele , kunezindlela ezahlukene zokwelapha izimpawu.
• Kubaluleke kakhulu ukufuna ukwesekwa yithimba lodokotela abangochwepheshe futhi ube nolwazi oluhle ngalesi sifo.
• Kubalulekile ukuqaphela izinkinga ezifana ne-deep vein thrombosis (DVT) kanye ne-pulmonary embolism (Pulmonary Embolism) ukuze kuvikelwe izimpilo.
• Uma wena noma othandekayo wakho ehlushwa yilesi simo, ungakhohlwa amandla avela ekusekelweni kwengqondo namaqembu okusekela .

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unemibuzo, sicela ungakhohlwa ukufuna iseluleko sezokwelapha.

I- Proteus Syndrome, Izifo Zofuzo, Intuthuko Engavamile, I-AKT1 Gene, i-DVT, i-Pulmonary Embolism, Izifo Zesikhumba, Intuthuko Yamathambo, Izifo Ezingavamile