Ngaba ezinye iindawo zomzimba ziba nkulu ngendlela engaqhelekanga? Masithethe ngeProteus Syndrome

Ngaba wakha wambona okanye weva ngomntu onezitho zomzimba – masithi, ingalo okanye umlenze – okhula kakhulu kwaye mkhulu ngokungalinganiyo kunabanye? Okanye ulusu kwezinye iindawo luba lukhuni luze lubonakale ngathi ngamaqhuma angaqhelekanga? Le yimeko engaqhelekanga kakhulu. Namhlanje siza kuthetha ngemeko engaqhelekanga kancinci, kodwa kubaluleke kakhulu ukuba wonke umntu ayiqaphele. Ibizwa ngokuba yiProteus Syndrome.

Yintoni iProteus Syndrome?

Ngamafutshane, iProteus Syndrome sisifo esingaqhelekanga kakhulu esibangelwa yimfuza . Sibangela ukuba amathambo omzimba wakho, ulusu, amalungu angaphakathi, okanye izicubu zikhule ngokugqithisileyo . Okubalulekileyo kukuba, oku kukhula kudla ngokungalingani . Oku kuthetha ukuba amacala omzimba angasekunene nasekhohlo achaphazeleka ngokwahlukileyo. Elinye icala linokuba likhulu, ngelixa elinye icala linokuba liqhelekileyo.

Oku kubizwa ngokuba yi "Proteus", kwakukho uthixo wamandulo wamaGrike ogama lingu "Proteus", owayenokutshintsha abe yiyo nayiphi na imilo. Esi sifo sikwatshintsha imilo yomzimba, ngoko ke safumana igama laso.

Usana olusandul’ ukuzalwa alusoloko lubonakalisa zimpawu zale meko. Olu phuhliso lungaqhelekanga luqala phakathi kweenyanga ezi-6 nezili-18 ubudala . Lukhula ngokukhawuleza kwiminyaka eli-10 yokuqala yobomi kwaye lunokuba nzima ngakumbi njengoko lukhula. Ukongeza kutshintsho kwinkangeleko yomzimba, abanye abantu banokuba neengxaki zemithambo-luvo. Abantu abane-Proteus syndrome nabo banomngcipheko omkhulu wokuqhekeka kwegazi kunye neethumba ezingezizo umhlaza .

Ngubani onokuyifumana le nto? Ixhaphake kangakanani?

I-Proteus syndrome inokuchaphazela nabani na, kodwa ezinye izifundo zibonise ukuba ixhaphake kancinci kumadoda kunakwabasetyhini.

Esi sisifo esingaqhelekanga kakhulu . Sichaphazela abantu abangaphantsi komnye kwisigidi kwihlabathi liphela. Ngenxa yokuba sinqabile, kwaye ngenxa yokuba kukho ezinye iimeko ezibonisa ukukhula okungalinganiyo, kunzima ukusixilonga ngokuchanekileyo. Ngenxa yoko, kunzima ukutsho ukuba bangaphi abantu abanaso ngokwenene. Oogqirha bakholelwa ukuba abanye abantu abachongwanga, kwaye abanye baye bachongwa ngendlela engafanelekanga. Nangona kunjalo, kukholelwa ukuba bangaphantsi kwekhulu abantu kwihlabathi liphela abanaso esi sifo.

Zithini iimpawu? Uzibona njani?

Iimpawu zokuqala zeProteus syndrome zihlala zibonakala phakathi kweenyanga ezi-6 ukuya kwezili-18 ubudala . Kulapho ke ipateni yokukhula engalinganiyo ekhankanyiweyo ngaphambili iqala khona. Ipateni yokukhula kunye nobunzima bayo inokwahluka kakhulu kumntu nomntu. Inokuchaphazela naliphi na ilungu lomzimba, kuquka amathambo, ulusu, amalungu omzimba kunye nezicubu. Le meko ikhula ngokukhawuleza kwiminyaka elishumi yokuqala yobomi.

### Utshintsho kumathambo:

Amathambo ezingalweni zakho, emilenzeni, entloko, nasemqolo asenokukhula ngendlela engaqhelekanga.

• Iingalo nemilenze zinokukhula zibe nobude obahlukeneyo kakhulu . Khawuthelekelele ingalo enye inde kunenye, okanye ubude bemilenze yakho bahlukile.
• Ukugoba okukhulu komqolo (i-scoliosis) kunokwenzeka.
• Ekuhambeni kwexesha, oku kukhula okungaqhelekanga kunokubangela ukuba amalungu angakwazi ukusebenza kakuhle.

### Utshintsho lolusu:

I-Proteus syndrome inokubangela ukukhula okungaqhelekanga eluswini.

• Kwezinye iindawo, ulusu luyaqina luze luphakame, lwenze iqhuma elishwabeneyo elifana nomphezulu wobuchopho. Oku kubizwa ngokuba yi-cerebriform connective tissue nevus .
• Ezi zihlala zibonakala ezinyaweni , kodwa ngamanye amaxesha zinokuvela ezandleni.

Olu hlobo lweqhubu lolusu lukhethekile kangangokuba alubonakali nakweyiphi na imeko yezonyango.

### Imithambo yegazi kunye nezicubu zamafutha:

• Kusenokubakho ukukhula okungaqhelekanga kwemithambo yegazi yakho, oko kukuthi ii-capillaries kunye nemithambo.
• Izicubu zamafutha zinokukhula ngokugqithisileyo, nto leyo ebangela ukuba amafutha amaninzi aqokeleleke kwiindawo ezifana nesisu, iingalo, nemilenze.
• Amaxesha amaninzi, ii-tumor ezingezizo zomhlaza nezinamafutha (ii-lipomas) zinokuvela.

### Iingxaki zenkqubo yemithambo-luvo:

Abanye abantu abaneProteus syndrome nabo bafumana iingxaki kwinkqubo yemithambo-luvo.

• Ukukhubazeka kwengqondo.
• Iimeko zesifo sokuwa `(Ukuxhuzula)`.
• Ukulahleka kombono.

### Utshintsho kwinkangeleko yobuso:

I-Proteus syndrome inokubangela ezinye iimpawu zobuso ezahlukileyo.

• Ubuso obude.
• Iikona zangaphandle zamehlo zibonakala ngathi zigobile.
• Ibhulorho yempumlo ethe tyaba kunye neempumlo ezibanzi.
• Kufana nokuba umlomo wakho uvulekile.

Ziziphi iingxaki eziyingozi ezinokubakho ngenxa yoku?

Eyona ngxaki isongela ubomi yeProteus syndrome yi- deep vein thrombosis (DVT), i-blood clot kwi-deep veins . I-DVT idla ngokuchaphazela i-deep veins yemilenze okanye iingalo, nto leyo ebangela iintlungu nokudumba.

Ukuba le 'DVT' ihamba ngegazi ukuya emiphungeni, inokubangela imeko eyingozi ebizwa ngokuba yi 'Pulmonary Embolism'. I-Pulmonary embolism yeyona nto ibangela ukufa kubantu abane-Proteus syndrome.

I-Proteus Syndrome ikhula njani? Ingaba yimfuza?

Isizathu soku kukutshintsha (ukuguqulwa) kwijini ebizwa ngokuba yi-`AKT1`.. I-gene ye-`AKT1` inceda ukulawula ukukhula nokwahlukana kweeseli. Xa le gene itshintshatshintsha, iseli ilahlekelwa ngamandla ayo okulawula ukukhula kwayo. Oku kubangela ukuba iseli ikhule kwaye yahlukane ngendlela engaqhelekanga. Yile nto ibangela ukukhula okugqithisileyo okubonwa kwi-Proteus syndrome.

Into ebalulekileyo kukuba iProteus syndrome ayisosifo esizuzwa njengelifa. Olu tshintsho lwezakhi zofuzo lwenzeka emva kokuchumisa i-embryo, olubizwa ngokuba yi-somatic mutation . Olu tshintsho lwenzeka ngengozi kwiseli enye ye-embryo esakhulayo kwasekuqaleni kokukhulelwa. Njengoko le seli iguqukileyo ikhula kwaye yahlukana, ezinye iiseli zine-mutation kwaye ezinye azinazo. Oku kubizwa ngokuba yi-mosaic gene alteration . Kufana nomfanekiso owenziwe ngeziqwenga zemibala eyahlukeneyo. Ekubeni i-`AKT1` gene mutation ichaphazela kuphela ezinye iiseli emzimbeni, esi sifo sichaphazela nenxalenye yomzimba kuphela.

Oogqirha bayixilonga njani le nto?

Ugqirha wakho uza kwenza uvavanyo lomzimba ukuze afumanise iProteus syndrome. Baza kusebenzisa noluhlu olukhethekileyo lweempawu ezihambelana nale meko. Ukuze ugqirha aqwalasele olu xilongo, kufuneka kubekho iimpawu ezintathu eziqhelekileyo. Ezi zezi:

• Ukusasazwa kwe-mosaic : Oku kuthetha ukuba ukukhula kusasazeka kwindawo ebanzi yomzimba. Amanye amalungu omzimba anezikhule, ngelixa amanye engenazo.
• Ukwenzeka okungacwangciswanga : Oku kuthetha ukuba akukho mntu wumbi kusapho lwakho onale mpawu.
• Indlela eqhubela phambili : Oku kuthetha ukuba ngokuhamba kwexesha, ukubonakala kwamalungu omzimba achaphazelekayo kutshintshe kakhulu ngenxa yolu hlobo lokukhula okugqithisileyo.

Ukongeza koku, ugqirha wakho uza kukhangela ezinye iimpawu ezithile. Ukuze kufunyaniswe ukuba une-Proteus syndrome, kufuneka ube neempawu ezithile kuzo zonke iindidi ezikuluhlu lokuhlola lukagqirha.

### Loluphi uhlobo lovavanyo oluqhutywayo?

Utshintsho lwemfuza olubangela iProteus syndrome alukho kuzo zonke iiseli emzimbeni. Ngoko ke, uvavanyo lwemfuza lunokuba nzima kancinci. Oku kungenxa yokuba utshintsho lusenokuba lungafumaneki kwisampulu yegazi, okanye lunokuba khona kuphela ngamanani amancinci kakhulu.

Nangona kunjalo, oogqirha banokufumanisa le jini iguqukileyo ngokuthatha isampuli encinci yezicubu zakho ezichaphazelekayo (i-biopsy) baze bayivavanye (uvavanyo lwe-DNA) . I-DNA evela kuloo sampuli isetyenziselwa ukufumanisa ijini eguqukileyo.

Ngaba ikhona indlela yokunyanga oku? Ngaba inganyangeka?

Ngelishwa, akukho nyango lweProteus syndrome . Unyango lugxile ekulawuleni iimpawu zakho ezithile. Kuya kufuneka usebenzisane neqela leengcali ukukunceda ngeemfuno zakho zonyango.

• Ugqirha wamathamboInyanga iingxaki ngamathambo akho. Kukho iindlela ezahlukeneyo zonyango zokunciphisa ukukhula kakhulu kwamathambo ezandleni, ezinyaweni, nakwiminwe. Zinokulungisa neengxaki zomqolo kunye namalungu. Ngaphambi kotyando, uya kuvavanywa yingcali ye-hematologist ukuze ahlole umngcipheko wakho wokuqhekeka kwegazi.
• Kusenokufuneka ubonane nogqirha wesikhumba ukuze ubone ukuba kukho i-sebum egqithisileyo kunye notshintsho lolusu. Ezinye iingxaki zinokufuna unyango olukhawulezileyo noluqhelekileyo. Kwezinye iingxaki, ugqirha wakho angasebenzisa indlela ethi "linda ubone". Oko kukuthi, baza kujonga imeko yakho ngaphambi kokuba bakucebise naluphi na unyango oluthile.

Abanye ababoneleli ngeenkonzo zempilo abanokuba yinxalenye yokhathalelo lwakho baquka:

• Ingcali kwizonyango zokubuyisela kwimeko yesiqhelo (uGqirha wezifo zengqondo)
• Ugqirha ochwephesha kwizifo zokuphefumla (i-Pulmonologist)
• Ingcali yonyango lomzimba
• Ugqirha wezonyango emsebenzini
• Umntu owenza izihlangu ezikhethekileyo kunye nezixhasi zeenyawo (Pedorthist)

Izazinzulu zisandula ukufumanisa i-gene ebangela i-Proteus syndrome, enokukhokelela kwinkqubela phambili enkulu ekuphuhlisweni kwamayeza amatsha kunye nolunye unyango.

Ngaba ikho indlela yokuthintela oku?

Hayi, iProteus syndrome ayinakuthintelwa. Oku kungenxa yokuba yimeko yemfuza. Utshintsho lwemfuza olubangela le nto luyenzeka ngokungacwangciswanga ngexesha lokukhula kwemveku. Ayibangelwanga yinto eyenzekileyo ngaphambi okanye ngexesha lokukhulelwa. Ngoko ke ungakhathazeki ngayo.

Injani ixesha lokuphila?

Ulindelo lobomi bomntu one-Proteus syndrome luxhomekeke kakhulu kwiindawo zomzimba ezichaphazelekileyo kunye nobunzima bemeko. Iingxaki zinokuba yingozi ebomini , kwaye zinokubangela ukufa ngaphezu kwesifo ngokwaso. Ezi ngxaki zingabandakanya i-deep vein thrombosis (DVT), i-pulmonary embolism, kunye nomhlaza. I-pulmonary embolism yeyona nto ixhaphakileyo yokufa kubantu abane-Proteus syndrome.

Lilonke, malunga nama-25% abantu abane-Proteus syndrome bafa ngaphambi kokuba bafikelele kwiminyaka engama-22 ubudala. Nangona kunjalo, abo baneempawu ezincinci bahlala bephila ubomi obude xa benonyango olusebenzayo.

Ungaphila njani neProteus Syndrome?

Ukuphila notshintsho olubangelwa yiProteus syndrome kunokuba yinto ecaphukisayo nenzima kakhulu. Kubalulekile ukuba wena nosapho lwakho nifunde kangangoko kunokwenzeka ngale meko.Ukuthetha nabanye abantu abajongene nesi sifo nokumamela amava abo kunokukunceda uzive ngathi awuwedwa kwaye kukho abantu abakuqondayo. Buza ugqirha wakho ngezixhobo ezinokukunceda ulawule kwaye uhlangabezane nemeko yakho.

Ukufumanisa ukuba wena okanye umntwana wakho unesifo esingaqhelekanga semfuza kunokuba ngamava othusayo nabuhlungu. Kunokuba nzima ngakumbi ukuba esi sifo sibangela utshintsho olukhulu emzimbeni. Ke ngoko, kubalulekile ukufumana ugqirha onokuxilonga ngokuchanekileyo iProteus syndrome aze ahlanganise iqela leengcali. Ngonyango olufanelekileyo, uninzi lwabantu lunolindelo oluhle lobomi. Kubalulekile ukufumana iqela labantu abanokuxhasa njengoko ujongene nolu xilongo lunzima.

Khumbula eyona nto ibalulekileyo (Umyalezo Wokuya Ekhaya)

• I-Proteus syndrome yimeko engaqhelekanga kakhulu yemfuza ebonakaliswa kukukhula okungaqhelekanga, okugqithisileyo kwamalungu athile omzimba.
• Oku akuyonto yemfuza . Kubangelwa kukuguquka kwezakhi zofuzo okungacwangciswanga okwenzeka ngexesha lesigaba sokuzalwa komntwana.
• Iimpawu zingahluka kakhulu kumntu nomntu.
• Nangona kungekho nyango lupheleleyo , kukho iindlela ezahlukeneyo zonyango zokulawula iimpawu.
• Kubaluleke kakhulu ukufuna inkxaso yeqela loogqirha abaziingcali kwaye ube nolwazi olupheleleyo ngesi sifo.
• Kubalulekile ukuqaphela iingxaki ezinje nge-deep vein thrombosis (DVT) kunye ne-pulmonary embolism (Pulmonary Embolism) ukukhusela ubomi.
• Ukuba wena okanye umntu omthandayo unengxaki yesi sifo, ungalibali amandla avela kwinkxaso yengqondo kunye namaqela enkxaso .

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba uneengxaki, nceda ungalibali ukufuna ingcebiso kagqirha.

I- Proteus Syndrome, Izifo zeMfuzo, Uphuhliso olungaqhelekanga, i-AKT1 Gene, i-DVT, i-Pulmonary Embolism, Izifo zesikhumba, Uphuhliso lwamathambo, Izifo ezingaqhelekanga