I-Lamellar ichthyosis: kuyini, izimpawu nokwelashwa

-Delile

• Izimbangela ze-lamellar ichthyosis
• Izimpawu eziyinhloko
• Ukuxilongwa kwenziwa kanjani
• Ukwelashwa kwe-lamellar ichthyosis

I-Lamellar ichthyosis isifo esingajwayelekile sezakhi zofuzo esibonakala ngezinguquko ekwakhekeni kwesikhumba ngenxa yokuguquka kwesimo, okwandisa ubungozi bokutheleleka nokoma, ngaphezu kwalokho kungaba nokushintsha kwamehlo, ukubambezeleka kwengqondo nokuncipha kokukhiqizwa kwezithukuthuku.

Ngenxa yokuthi ihlobene nokuguquka kwezakhi zofuzo, i-lamellar ichthyosis ayinalo ikhambi futhi, ngakho-ke, ukwelashwa kwenziwa ngenhloso yokuqeda izimpawu nokuthuthukisa izinga lomuntu lokuphila, okudinga ukusetshenziswa kokhilimu abanconywe udokotela wesikhumba ukuze bagweme ukuqina kwesikhumba nokugcina yathambisa.

Izimbangela ze-lamellar ichthyosis

I-Lamellar ichthyosis ingabangelwa ukuguqulwa kwezakhi zofuzo eziningana, noma kunjalo ukuguqulwa kofuzo lwe-TGM1 kuhlobene kakhulu nokuvela kwalesi sifo. Ngaphansi kwezimo ezijwayelekile, lesi sakhi sikhuthaza ukwakheka ngamanani anele we-protein transglutaminase 1, ebhekele ukwakheka kwesikhumba. Kodwa-ke, ngenxa yokuguquka kwesakhi sofuzo, inani le-transglutaminase 1 alisebenzi kahle, futhi kungahle kube nokukhiqizwa okuncane noma okungekho kwaleli protein, okuholela ekushintsheni kwesikhumba.

Njengoba lesi sifo sisebenza ngokweqile, ukuze umuntu abe nesifo, kuyadingeka ukuthi bobabili abazali baphathe lesi sakhi ukuze ingane ibonakale nokuguquka kwesifo.

Izimpawu eziyinhloko

ILamellar ichthyosis uhlobo olubi kakhulu lwe-ichthyosis futhi lubonakala ngokuxebuka kwesikhumba ngokushesha, okuholela ekubonakaleni kwemifantu eminingana esikhunjeni engaba buhlungu kakhulu, okwandisa ubungozi bokutheleleka nokuphelelwa amanzi emzimbeni nokunciphisa ukuhamba, ngoba lapho futhi kungaba ukuqina kwesikhumba.

Ngaphandle kokuxebuka, kungenzeka ukuthi abantu abane-lamellar ichthyosis bezwe i-alopecia, okuwukulahleka kwezinwele nezinwele ezingxenyeni ezihlukene zomzimba, okungadala ukungabekezelelani kokushisa. Ezinye izimpawu ezingabonakala yilezi:

• Izinguquko zamehlo;
• Ukuguqulwa kwejwabu leso, okwaziwa ngokwesayensi njenge-ectropion;
• Izindlebe ezinamathele;
• Nciphisa ukukhiqizwa kwezithukuthuku, okubizwa nge-hypohidrosis;
• Microdactyly, lapho kwakhiwa khona iminwe emincane noma emincane;
• Ukuguqulwa kwezipikili neminwe;
• Mfushane;
• Ukuwohloka kwengqondo;
• Ukwehla kwamandla okuzwa ngenxa yokuqoqwa kwezikali zesikhumba emgodini wezindlebe;
• Ukwanda kwesikhumba ezandleni nasezinyaweni.

Abantu abane-lamellar ichthyosis banesikhathi esijwayelekile sokuphila, kepha kubalulekile ukuthi kuthathwe izinyathelo zokunciphisa ubungozi bokutheleleka. Ngaphezu kwalokho, kubalulekile ukuthi bahambisane nezazi zokusebenza kwengqondo, ngoba ngenxa yokukhubazeka ngokweqile nokukhula bangase bahlupheke.

Ukuxilongwa kwenziwa kanjani

Ukuxilongwa kwe-lamellar ichthyosis kuvame ukwenziwa lapho kuzalwa, futhi kungenzeka ukuqinisekisa ukuthi ingane izalwa inongqimba lwesikhumba esiphuzi nemifantu. Kodwa-ke, ukuze kuqinisekiswe ukuxilongwa, ukuhlolwa kwegazi, kwamangqamuzana kanye ne-immunohistochemical kuyadingeka, njengokuhlolwa komsebenzi we-enzyme TGase 1, esebenza kwinqubo yokwakhiwa kwe-transglutaminase 1, ngokuncipha komsebenzi walokhu i-enzyme ku-lamellar ichthyosis.

Ngaphezu kwalokho, ukuhlolwa kwamangqamuzana kungenziwa ukukhomba ukuguqulwa kohlobo lwe-TGM1, noma kunjalo lokhu kuhlolwa kuyabiza futhi akutholakali yi-Unified Health System (SUS).

Kungenzeka futhi ukutholakala kokuxilongwa ngisho nangesikhathi sokukhulelwa ngokuhlaziya i-DNA usebenzisa i-amniocentesis, okuwukuhlolwa lapho kuthathwa khona isampula le-amniotic fluid ngaphakathi kwesibeletho, eliqukethe amangqamuzana ezingane futhi angahlolwa ilabhorethri ukuthola noma yikuphi ukuguqulwa kofuzo. Kodwa-ke, lolu hlobo lokuhlola lunconywa kuphela uma kunamacala we-lamellar ichthyosis emndenini, ikakhulukazi maqondana nobudlelwano phakathi kwezihlobo, njengoba abazali kungenzeka babe ngabathwali boshintsho futhi baludlulisele enganeni yabo.

Ukwelashwa kwe-lamellar ichthyosis

Ukwelashwa kwe-lamellar ichthyosis kuhlose ukunciphisa izimpawu futhi kuthuthukise izinga lomuntu lokuphila, ngoba lesi sifo asinalo ikhambi. Ngakho-ke, kubalulekile ukuthi ukwelashwa kwenziwe ngokuya ngodokotela besikhumba noma ukuqondiswa kukadokotela ojwayelekile, kunconywe ukufuthwa nokusetshenziswa kwemithi ethile ebhekele ukulawulwa kokuhlukaniswa kwamaseli nokulawulwa kokutheleleka, njengoba isikhumba, okuyisithiyo sokuqala ukuvikelwa komzimba, konakele ku-lamellar ichthyosis.

Ngaphezu kwalokho, ukusetshenziswa kwamanye okhilimu kunganconywa ukugcina isikhumba sinamanzi, sisuse izingqimba ezomile zesikhumba futhi sisivimbele ekubeni siqine. Qonda ukuthi ukwelashwa kwe-ichthyosis kufanele kwenziwe kanjani.