Iproteus syndrome: yintoni, indlela yokuchonga nokunyanga

Umxholo

• Iimpawu eziphambili
• Yintoni ebangela isifo
• Unyango lwenziwa njani
• Indima yesayikholojisti kwiProteus syndrome

Iproteus syndrome sisifo esinqabileyo semfuza esibonakaliswa kukukhula ngokugqithileyo kunye nokungalingani kwemithambo, ulusu kunye nezinye izicwili, okukhokelela kugigantism yamalungu kunye namalungu, ikakhulu iingalo, imilenze, ukakayi kunye nomqolo.

Iimpawu zeProteus Syndrome zihlala zibonakala phakathi kweenyanga ezili-6 ukuya kwezili-18 ubudala kunye nokukhula okugqithileyo nokungalinganiyo kuye kuyeke ukufikisa. Kubalulekile ukuba i-syndrome ichongwe ngokukhawuleza ukuze kuthathwe amanyathelo kwangoko ukulungisa ukukhubazeka kunye nokuphucula isimo somzimba sezigulane zesifo, ukuphepha iingxaki zengqondo, ezifana nokuzihlukanisa kunye nokudandatheka, umzekelo.

Iimpawu eziphambili

Iproteus syndrome ihlala ibangela ukubonakala kweempawu ezithile, ezinje:

• Iziphene kwiingalo, imilenze, ukakayi kunye nentambo yomqolo;
• Asymmetry yomzimba;
• Ukugoba kolusu okugqithisileyo;
• Iingxaki zomqolo;
• Ubuso obude;
• Iingxaki zentliziyo;
• Iintsumpa kunye amabala ukukhanya emzimbeni;
• Ipeni eyandisiweyo;
• Ukwandisa ububanzi beminwe, ebizwa ngokuba yi-digital hypertrophy;
• Ukudodobala kwengqondo.

Nangona lukhona utshintsho emzimbeni, kwiimeko ezininzi, abaguli abanesifo sikhulisa amandla abo okuqonda ngokwesiqhelo, kwaye banokuba nobomi obuqhelekileyo.

Kubalulekile ukuba isifo sichongwe kwangoko, kuba ukuba ukubek'esweni kuyenziwa okoko kwabonakala utshintsho lokuqala, akunokunceda ekuthinteleni ukuphazamiseka kwengqondo, kodwa nokukhusela ezinye iingxaki eziqhelekileyo zesi sifo, ezinje njengokubonakala kwamathumba anqabileyo okanye ukubakho kwe-venous thrombosis.

Yintoni ebangela isifo

Unobangela weProteus syndrome awukasekwa kakuhle, nangona kunjalo kukholelwa ukuba inokuba sisifo semfuza esibangelwe kukuvela okuzenzekelayo kuhlobo lwe-ATK1 olwenzeka ngexesha lokukhula komntwana.

Ngaphandle kokuba yimfuza, iProteus syndrome ayithathwa njengelifa, oko kuthetha ukuba akukho bungozi bokudlulisela utshintsho kubazali luye ebantwaneni. Nangona kunjalo, ukuba kukho iimeko zeProteus syndrome kusapho, kuyacetyiswa ukuba kwenziwe ululeko ngofuzo, kuba kunokubakho imeko ethe kratya yokuvela kwesi sigulo.

Unyango lwenziwa njani

Akukho lunyango oluthile lweProteus syndrome, kwaye kuhlala kucetyiswa ngugqirha ukuba asebenzise iindlela ezithile zokulawula ezinye iimpawu, ukongeza kutyando lokulungisa izicwili, ukususa amathumba kunye nokuphucula ubuhle bomzimba.

Xa ifunyenwe kumanqanaba okuqala, isifo sinokulawulwa ngokusetyenziswa kwesiyobisi ekuthiwa yiRapamycin, eliyeza elichaza ngenjongo yokuthintela ukukhula okungaqhelekanga kwethishyu kunye nokuthintela ukwenziwa kwamathumba.

Ukongeza, kubaluleke kakhulu ukuba unyango lwenziwe liqela leengcali ezahlukeneyo, ekufuneka libandakanye oogqirha babantwana, oogqirha bamathambo, oogqirha beeplastikhi, abagqirha bezikhumba, oogqirha bamazinyo, oochwephesha bee-neurosurgeons kunye noochwephesha bengqondo, umzekelo. Ngale ndlela, umntu uya kuba nayo yonke inkxaso eyimfuneko ukuze afumane umgangatho wobomi.

Indima yesayikholojisti kwiProteus syndrome

Ukubeka iliso kwezengqondo kubaluleke kakhulu kungekuphela kwisigulana esine-syndrome kodwa nakumalungu osapho, kuba ngale ndlela kunokwenzeka ukuba sisiqonde esi sifo kwaye samkele amanyathelo okuphucula umgangatho wobomi nokuzithemba komntu. Ukongeza, isayikholojisti kubalulekile ukuphucula ubunzima bokufunda, ukunyanga iimeko zoxinzelelo, ukunciphisa ukungonwabi komntu kunye nokuvumela unxibelelwano lwasentlalweni.