Yonke into omele uyazi NgeProteus Syndrome

Umxholo

• Ubusazi?
• Iimpawu zesifo seProteus
• Oonobangela Proteus syndrome
• Ukuchonga isifo seProteus
• Unyango lwe-Proteus syndrome
• Iingxaki zesi sifo
• Imbonakalo

Ushwankathelo

Iproteus syndrome yimeko enqabileyo kodwa engapheliyo, okanye yexesha elide. Kubangela ukwanda kwesikhumba, amathambo, imithambo yegazi, kunye namanqatha kunye nezihlunu ezihlangeneyo. Oku kugqithisa ngokwesiqhelo akunawo umhlaza.

Ukugqithisa kunokuba kubumnene okanye kunzima, kwaye kunokuchaphazela nayiphi na indawo yomzimba. Imilenze, umqolo, kunye nokakayi kuchaphazeleka kakhulu. Ngokwesiqhelo azibonakali ekuzalweni, kodwa ziye ziqapheleke ngakumbi kubudala beenyanga ezi-6 ukuya kwezi-18. Ukushiywa kunganyangwa, ukugqitha kunokukhokelela kwimicimbi yezempilo kunye nokuhamba.

Kuqikelelwa ukuba bambalwa abantu abangama-500 kwihlabathi lonke abaneProteus syndrome.

Ubusazi?

Iproteus syndrome ifumene igama ukusuka kuthixo wamaGrike uProteus, owayezakutshintsha ubume bakhe angabanjwa. Kukwacingwa ukuba uJoseph Merrick, obizwa ngokuba yindlovu yendoda, uneProteus syndrome.

Iimpawu zesifo seProteus

Iimpawu zihlala zihluka kakhulu ukusuka komnye umntu ukuya komnye kwaye zingabandakanya:

• ukugqithisa kwe-asymmetric, njengelinye icala lomzimba elinamalungu amade kunelinye
• izilonda ezonyuselweyo, ezinesikhumba ezinokuba nokubonakala ngokungxama
• umqolo ogobileyo, obizwa ngokuba yi-scoliosis
• ukwanda kwamafutha, rhoqo esiswini, kwiingalo nasemilenzeni
• amathumba angenasifo somhlaza, ahlala efumaneka kwii-ovari, kunye neembumba ezigubungela ubuchopho kunye nentambo yomqolo
• imithambo yegazi engalunganga, eyonyusa umngcipheko wamahlwili egazi asongela ubomi
• ukungalunganga kwenkqubo ye-nervous system, enokubangela ukukhubazeka kwengqondo, kunye neempawu ezinjengobuso obude kunye nentloko emxinwa, iinkophe ezijingayo, kunye neempumlo ezibanzi
• iphedi yesikhumba eqinisiweyo kwiinyawo zenyawo

Oonobangela Proteus syndrome

Iproteus syndrome yenzeka ngexesha lokukhula komntwana. Kubangelwa koko iingcali zikubiza ngokuba yinguqulelo, okanye inguquko esisigxina, yemfuza I-AKT1. Inkqubo ye- I-AKT1 Imfuza inceda ukulawula ukukhula.

Akukho mntu waziyo ukuba kutheni olu tshintsho lusenzeka, kodwa oogqirha bakrokrela ukuba alunanjongo. Ngesi sizathu, i-Proteus syndrome ayisosifo esidluliselwa ukusuka kwesinye isizukulwana ukuya kwesinye. IProteus Syndrome Foundation igxininisa ukuba le meko ayibangelwa yinto eyenziwe ngumzali okanye ayenzanga.

Iingcali zenzululwazi ziye zafumanisa ukuba ukutshintsha kwemfuza kuyimbonakalo. Oko kuthetha ukuba ichaphazela ezinye iiseli emzimbeni kodwa hayi ezinye. Oku kunceda ukucacisa ukuba kutheni elinye icala lomzimba linokuchaphazeleka hayi elinye, kwaye kutheni ubukhulu beempawu zingahluka kakhulu ukusuka komnye umntu ukuya komnye.

Ukuchonga isifo seProteus

Ukufumanisa isifo kunokuba nzima. Le meko inqabile, kwaye oogqirha abaninzi abayiqhelanga. Inyathelo lokuqala ugqirha anokulithatha kukwenza i-biopsy ithumba okanye izicwili, kwaye kuvavanye isampulu kubukho beguqukile I-AKT1 Uhlobo. Ukuba kufunyenwe enye, iimvavanyo zokuhlola, ezinje nge-X-ray, ii-ultrasound, kunye ne-CT scan, zinokusetyenziselwa ukukhangela abantu bangaphakathi.

Unyango lwe-Proteus syndrome

Akukho lunyango lwe-Proteus syndrome. Unyango ngokubanzi lujolise ekunciphiseni nasekulawuleni iimpawu.

Le meko ichaphazela amalungu amaninzi omzimba, ke umntwana wakho unokufuna unyango koogqirha abaliqela, kubandakanya oku kulandelayo:

• ugqirha wentliziyo
• ugqirha wesikhumba
• i-pulmonologist (ingcali yemiphunga)
• ugqirha wamathambo (ugqirha wamathambo)
• ugqirha womzimba
• ugqirha wengqondo

Utyando lokususa ukukhula okungaphezulu kwesikhumba kunye nezicubu ezigqithileyo kunokucetyiswa. Oogqirha banokucebisa ukuba kususwe ngocanda iipleyiti zokukhula kwithambo ukuthintela ukukhula okugqithileyo.

Iingxaki zesi sifo

Iproteus syndrome inokubangela iingxaki ezininzi. Ezinye zisongela ubomi.

Umntwana wakho unokukhulisa izihlwele ezikhulu. Ezi zinokuthi zingonakalisi kwaye zikhokelele kwimicimbi yokuhamba kakhulu. Izidumbu zinokucinezela amalungu kunye nemithambo-luvo, zikhokelela kwizinto ezinje ngemiphunga eyaphukileyo kunye nelahleko yovakalelo kwilungu lomzimba. Ukwanda kwethambo kunokubangela nelahleko yokuhamba.

Ukukhula kunokubangela iingxaki zemithambo-luvo ezinokuthi zichaphazele ukukhula kwengqondo, kwaye zikhokelele ekuphulukaneni nombono kunye nokubanjwa.

Abantu abaneProteus syndrome bathambekele ngakumbi kwi-vein thrombosis kuba inokuchaphazela imithambo yegazi. I-vein thrombosis enzulu ligazi elenzeka kwimithambo enzulu yomzimba, ngesiqhelo emlenzeni. Ihlwili linokukhulula lihambe lihambe emzimbeni wonke.

Ukuba iqokobhe liyatshata kwimithambo yemiphunga, ebizwa ngokuba yimbumba yemiphunga, inokuthintela ukuhamba kwegazi kwaye likhokelele ekufeni. I-pulmonary embolism yeyona nto ibangela ukufa kubantu abane-Proteus syndrome. Umntwana wakho uya kubekwa esweni rhoqo ngamahlwili egazi. Iimpawu eziqhelekileyo ze-pulmonary embolism zi:

• ukuqhawukelwa ngumphefumlo
• iintlungu zesifuba
• ukukhwehlela okunokuthi ngamanye amaxesha kuvelise i-mucus enegazi

Imbonakalo

Iproteus syndrome yimeko engaqhelekanga kakhulu enokuhluka ngokobunzima. Ngaphandle konyango, imeko iya kuba mandundu ngokuhamba kwexesha. Unyango lunokubandakanya utyando kunye nonyango lomzimba. Umntwana wakho uya kujongwa ngeliso legazi.

Imeko inokuchaphazela umgangatho wobomi, kodwa abantu abaneProteus syndrome banokuguga ngesiqhelo ngongenelelo lonyango kunye nokubeka esweni.