I-Lamellar ichthyosis: yintoni, iimpawu kunye nonyango

Umxholo

• Oonobangela be-lamellar ichthyosis
• Iimpawu eziphambili
• Uxilongo lwenziwa njani
• Unyango lwe-lamellar ichthyosis

I-Lamellar ichthyosis sisifo esinqabileyo semfuza esibonakaliswa lutshintsho ekubunjweni kolusu ngenxa yenguquko, eyonyusa umngcipheko wosulelo kunye nokuphelelwa ngamanzi emzimbeni, ukongeza apho kunokubakho notshintsho lwamehlo, ukudodobala kwengqondo kunye nokuhla kwemveliso yokubila.

Ngenxa yokuba inxulumene notshintsho, i-lamellar ichthyosis ayinanyango kwaye, ke, unyango lwenziwa ngenjongo yokunciphisa iimpawu kunye nokukhuthaza umgangatho wobomi bomntu, ofuna ukusetyenziswa kweekhrim ezicetyiswe ngugqirha wesikhumba ukunqanda ukuqina kolusu kunye nokugcina yacoca amanzi.

Oonobangela be-lamellar ichthyosis

I-Lamellar ichthyosis inokubangelwa kukutshintsha kweendidi ezininzi zofuzo, nangona kunjalo utshintsho kwi-TGM1 gene yeyona nto inxulumene kakhulu nokuvela kwesi sifo. Phantsi kweemeko eziqhelekileyo, lo mfuza ukhuthaza ukwakheka kwixabiso elaneleyo leproteinutaminase 1 yeprotheyini, ejongene nokwakheka kolusu. Nangona kunjalo, ngenxa yokutshintsha kwale geni, inani le-transglutaminase 1 alisebenzi kakuhle, kwaye kunokubakho okuncinci okanye kungabikho mveliso yale protein, ekhokelela kutshintsho lolusu.

Njengokuba esi sifo sine-autosomal recessive, ukuze umntu abe nesifo, kuyafuneka ukuba bobabini abazali bayiphathe le geni ukuze umntwana abonakalise ukuguquka kwesifo.

Iimpawu eziphambili

I-Lamellar ichthyosis lolona hlobo lubaluleke kakhulu lwe-ichthyosis kwaye lubonakaliswa kukukhawuleza kwesikhumba, okukhokelela ekubonakaleni kweefissure ezininzi kulusu ezinokuba buhlungu kakhulu, zonyusa umngcipheko wosulelo kunye nokuphelelwa ngamandla emzimbeni kunye nokunciphisa ukuhamba, ukusukela oko inokuba nokuqina kolusu.

Ukongeza kwi-peeling, kunokwenzeka ukuba abantu abane-lamellar ichthyosis bafumane i-alopecia, kukuphulukana kweenwele neenwele kumalungu ahlukeneyo omzimba, anokubangela ukunganyamezelani kobushushu. Ezinye iimpawu ezinokuchongwa zezi:

• Utshintsho lwamehlo;
• Ukuguqulwa kwejwabu leso, okwaziwa ngokwenzululwazi njenge-ectropion;
• Iindlebe ezinamathele;
• Ukuhla kwemveliso yokubila, ebizwa ngokuba yihypohidrosis;
• Microdactyly, apho kwenziwa khona iminwe encinci okanye encinci;
• Ukutshintsha kweenzipho kunye neminwe;
• Mfutshane;
• Ukudodobala kwengqondo;
• Ukuhla kwamandla okuva ngenxa yokuqokelelwa kwezikali zolusu kumsele wendlebe;
• Ukonyuka kobukhulu besikhumba ezandleni nasezinyaweni.

Abantu abane-lamellar ichthyosis bahlala ixesha eliqhelekileyo lokuphila, kodwa kubalulekile ukuba kuthathwe amanyathelo okunciphisa umngcipheko wosulelo. Ukongeza, kubalulekile ukuba bakhatshwe ngoochwephesha bezengqondo, kuba ngenxa yokukhubazeka okugqithileyo kunye nokukhula banokufumana ucalucalulo.

Uxilongo lwenziwa njani

Ukuchongwa kwe-lamellar ichthyosis kuhlala kwenziwa ngexesha lokuzalwa, kwaye kunokwenzeka ukuba uqiniseke ukuba umntwana uzalwe enothotho lwesikhumba esimthubi kunye nokuqhekeka. Nangona kunjalo, ukuze kuqinisekiswe ukuxilongwa, igazi, iimolekyuli kunye novavanyo lwe-immunohistochemical ziyimfuneko, njengokuvavanywa komsebenzi we-enzyme TGase 1, esebenza kwinkqubo yokwenziwa kwe-transglutaminase 1, kunye nokwehla komsebenzi wale i-enzyme kwi-lamellar ichthyosis.

Ukongeza, iimvavanyo zeemolekyuli zinokwenziwa ukuze kuchongwe utshintsho lwe-TGM1, nangona kunjalo olu vavanyo lubiza kakhulu kwaye alufumaneki yiNkqubo eManyeneyo yezeMpilo (SUS).

Kuyenzeka ukuba uphumeze isifo ngexesha lokukhulelwa ngokuhlalutya i-DNA usebenzisa i-amniocentesis, eluvavanyo apho isampulu ye-amniotic fluid ithathwa ngaphakathi kwisibeleko, esineeseli zomntwana ezinokuthi zivavanywe elebhu ukukhangela naluphi na utshintsho kwimfuza. Nangona kunjalo, olu hlobo loviwo lukhuthazwa kuphela xa kukho iimeko ze-lamellar ichthyosis kusapho, ngakumbi kwimeko yobudlelwane phakathi kwezihlobo, njengoko abazali kusenokwenzeka ukuba babe ngabathwali benguquko kwaye ke bayigqithisele emntwaneni wabo.

Unyango lwe-lamellar ichthyosis

Unyango lwe-lamellar ichthyosis ijolise ekunciphiseni iimpawu kunye nasekukhuthazeni umgangatho wobomi bomntu, kuba esi sifo asinyangi. Ke, kubalulekile ukuba unyango lwenziwe ngokuya kugqirha wesikhumba okanye isikhokelo segqirha ngokubanzi, kucetyiswa ukufakwa kunye nokusetyenziswa kwamachiza athile anoxanduva lokulawula ukwahlulwa kweeseli kunye nolawulo losulelo, ukusukela oko ulusu, olungumqobo wokuqala Ukukhuselwa komzimba, konakele kwi-lamellar ichthyosis.

Ukongeza, ukusetyenziswa kwezinye iikhrimu kunokucetyiswa ukugcina ulusu lunamanzi, ususe umaleko owomileyo wolusu kwaye uthintele ukuba ungabi lukhuni. Qonda ukuba unyango lwe-ichthyosis kufuneka lwenziwe njani.