Isifo Urbach-ko- esithi: iimpawu, unyango, abantu abane

Disease Urbach-ko- - ukuphazamiseka ezinqabe kakhulu yemfuza, ezidluliselwa ngendlela sofuzo autosomal. Unobangela kwesifo - kuguquka kwi chromosome yokuqala ECM1 sofuzo. Kule ncwadi zonyango kukho elinye igama isifo - proteinosis lipoid.

History of izovela

Ityala yokuqala sifo, ogama iimpawu zihambelana sifo Urbach-ko-, yabhaliswa ngo-1908. It wachaza unjingalwazi Swiss kunye ingcali yokuva ngeendlebe Friedrich Siebenmann. Ngowe-1925 wesikhumba Swiss kunye histologist Iogann Misher wachaza amatyala amathathu ezifanayo.

Noko ke, ngokusemthethweni ke kukho ukuphazamiseka enqabileyo sofuzo yemfuza ziye ingxelo yi wesikhumba kunye Urbach otolagingologom Vita kuphela ngo-1929. It UErich Urbach ebizwa ngezifo proteinosis lipoid, kuba ukholelwa ukuba linxulumene ukungalingani lipid kunye protein iidipozithi kwi kwizihlunu zomzimba.

Ekubeni ukuvulwa sele kubhaliswa imithombo eyahlukeneyo ukusuka amatyala amathathu anamakhulu ezingamakhulu amane esi sifo ehlabathini lonke.

iimpawu

Phakathi mpawu zixhaphakileyo isifo - irhashalala ujikeleze iinkophe njengoko papules (ukuba nazo ziyafumaneka kwi Luba nentamo), isigulana uba ngelizwi elitshothozayo, kukho ukwehla kwamandla okungenisa eluswini, ukuqina isifo kunye induration le isicwili sobuchopho kuloo mmandla zexeshana. Uphawu wokugqibela kuyingozi kakhulu kuba inokukhokelela zexeshana lobe ukuxhuzula.

Isifo kubonakala kuqala ngokwayo ngeminyaka detstkom (iminyaka 3-7). Kwaba ngoko ukuba kukho irhashalala kakhulu eluswini, kunye hoarseness.

Kufanele kuphawulwe ukuba ezi mpawu ukuba ingacaci kwaye zinokwahluka kakhulu isigulane ukuba nomonde. Njengoko esi sifo autosomal Urbach-ko- ethunyelwayo sofuzo, akunamsebenzi ukuzibonakalisa ukuba kweejini of a allele oluqhelekileyo lubalaseleyo. Isikakhulu abantu nakubona ukuba abathwali sofuzo njengesi. Abanye eendaba sisifo enqabileyo ngakubanampawu. Kwaye kuphela ukuba bobabini abazali sofuzo ukuba proteinosis lipoid, isifo ngazo ngokwayo kwi inzala.

ekuxilongweni

isifo Urbach-ko- kukuba kunzima ukuba unesifo kuba iimpawu akukho jikelele. Kwimeko kwamaqhakuvana (papules) kwi iinkophe, amaqhakuvana papular eluswini entanyeni kunye ebunzi, uxilongo kuquka ukutyelela wesikhumba.

Isifo okusolwayo Urbach-ko- eyabelwe MRI ngaphandle koko olo lunokukhangela ukuqokelelana icalcium emzimbeni. Noko ke, le uphawu akuthethi kombisa proteinosis lipoid. Calcification kwakhona uphawu herpes simplex kobuchopho.

A indima ephambili lokufunyaniswa edlalwa zophando yemfuza. Loo nto yenza kube lula ukuba abantu bazigqibele ukuqinisekisa ukuba kukho ECM1 gene ukuguquka, kwaye ukuba kunjalo, ingaba lo guquko wenza kukhokelela isifo Urbach-ko-.

unyango

Ngaphandle kwento yokuba proteinosis lipoid uvulekile ixesha elide, loo nto sisifo esingaqhelekanga, njengoko uninzi ukungaqheleki genetic asinyangeki. Noko ke, nokuqhubekayo entsimini ngamachiza ukuvumela impawo ezininzi zesi sifo.

Ngenxa yoko, iziphumo ezincumisayo kwaqondakala xa efumana 'lweeHedfowuni "yaye" dimethyl sulfoxide ", nangona kuzo zonke iimeko. Ulawulo ngomlomo iingedosi ezincinane "dimethylsulfoxide" (Dimexidum) ngenxa iipropati anti-yokukrala ichiza, kunciphisa obubonakala isifo dermotropic.

Ukusetyenziswa "D-penicillamine" ibe yimpumelelo, kodwa hayi ngokubanzi. Obhalisiweyo kunye namatyala ezigulane "Tigasonom", oko kumiselwe ngokuqhelekileyo ukuba ukhwekhwe.

Ekubeni calcium yokulahlwa kwe zomzimba engqondweni kunokukhokelela kwisizukulwana pulses zombane abangaphezu kwemfuneko kunye nokuhlasela nabanesathuthwane, anticonvulsants izigulane ezimiselweyo ( "Metindion" "ethosuximide").

Outlook

isifo Urbach-ko- kunye unyango olufanelekileyo, njengoko umthetho, ayikho yingozi. Abantu abanengxaki kwesi sifo angaphila ubomi obude ngokupheleleyo ubomi. Kodwa asimele sityeshele utyelelo kugqirha rhoqo. Ngenxa ukuqina le inwebu uxakaxa kwezinye iimeko asakhasayo ngokuma kokuphazanyiswa. izigulane ezinjalo ukubuyisela patency ye ngokuma kufuneka uqhoqhoqho okanye usebenzisa i laser carbon dioxide.

Kwiimeko apho iidipozithi calcium kukhokelela sokuwa, kuyimfuneko ukubona oyingcaphephe-epileptolog leyo ikhetha unyango olufanelekileyo, ngokuxhomekeke ubukhali iimpawu.