Lamellar ichthyosis: ndi chiyani, zizindikiro ndi chithandizo

Zamkati

• Zomwe zimayambitsa lamellar ichthyosis
• Zizindikiro zazikulu
• Momwe matendawa amapangidwira
• Chithandizo cha lamellar ichthyosis

Lamellar ichthyosis ndi matenda osowa omwe amabwera chifukwa cha kusintha kwa khungu chifukwa cha kusintha kwa thupi, komwe kumawonjezera chiopsezo cha matenda opatsirana komanso kuchepa kwa madzi m'thupi, kuwonjezera apo pakhoza kukhala kusintha kwa diso, kuchepa kwamaganizidwe ndi kuchepa kwa thukuta.

Chifukwa ndizokhudzana ndi kusintha kwa thupi, lamellar ichthyosis ilibe mankhwala ndipo, chifukwa chake, chithandizo chimachitidwa ndi cholinga chotsitsa zizindikilo ndikulimbikitsa moyo wa munthu, zomwe zimafunikira kugwiritsa ntchito mafuta omwe amalangizidwa ndi dermatologist kuti asamaumitse khungu ndikusunga idatunga madzi.

Zomwe zimayambitsa lamellar ichthyosis

Lamellar ichthyosis imatha chifukwa cha kusintha kwa majini angapo, komabe kusintha kwa jini la TGM1 ndiko kokhudzana kwambiri ndi kupezeka kwa matendawa. Mumikhalidwe yabwinobwino, jini ili limalimbikitsa mapangidwe a protein transglutaminase 1, yomwe imayambitsa khungu. Komabe, chifukwa cha kusinthika kwa jini iyi, kuchuluka kwa transglutaminase 1 sikukwaniritsidwa, ndipo mwina sipangakhale kapangidwe kake kapena kochepa ka protein iyi, yomwe imabweretsa kusintha kwa khungu.

Popeza matendawa ndi achilengedwe, kuti munthu akhale ndi matenda, ndikofunikira kuti makolo onse atenge jini ili kuti mwanayo awoneke ndikusintha kwamatenda.

Zizindikiro zazikulu

Lamellar ichthyosis ndiye mtundu wovuta kwambiri wa ichthyosis ndipo amadziwika ndi khungu lofulumira, lomwe limapangitsa kuti pakhale ziphuphu zingapo pakhungu zomwe zimakhala zopweteka kwambiri, zomwe zimawonjezera chiopsezo cha matenda opatsirana komanso kuchepa kwa madzi m'thupi komanso kuchepetsa kuyenda, kuyambira pamenepo amathanso kukhala olimba pakhungu.

Kuphatikiza pa kusenda, ndizotheka kuti anthu omwe ali ndi lamellar ichthyosis azimva alopecia, yomwe ndi kutayika kwa tsitsi ndi tsitsi m'malo osiyanasiyana amthupi, zomwe zimatha kuyambitsa kutentha kwa kutentha. Zizindikiro zina zomwe zingadziwike ndi izi:

• Kusintha kwa diso;
• Kusintha kwa chikope, chodziwika mwasayansi monga ectropion;
• Makutu okutidwa;
• Kuchepetsa kutulutsa thukuta, lotchedwa hypohidrosis;
• Microdactyly, momwe zala zazing'ono kapena zochepa zimapangidwira;
• Kusintha kwa misomali ndi zala;
• Mfupi;
• Kufooka kwa malingaliro;
• Kuchepetsa mphamvu yakumva chifukwa chakuchuluka kwa sikelo pakhungu mu ngalande ya khutu;
• Kuchulukitsa kwa khungu m'manja ndi m'mapazi.

Anthu omwe ali ndi lamellar ichthyosis amakhala ndi chiyembekezo chokhala ndi moyo, koma ndikofunikira kuti achitepo kanthu kuti achepetse matenda. Kuphatikiza apo, ndikofunikira kuti aziyenda limodzi ndi akatswiri amisala, chifukwa chifukwa cha kupindika kwakukulu ndikukula kwake atha kusalidwa.

Momwe matendawa amapangidwira

Matenda a lamellar ichthyosis nthawi zambiri amapangidwa pobadwa, ndipo ndizotheka kutsimikizira kuti mwanayo amabadwa ndi khungu lachikaso komanso ming'alu. Komabe, pofuna kutsimikizira kuti matendawa ndi otani, kuyesa magazi, maselo ndi ma immunohistochemical ndikofunikira, monga kuyesa ntchito ya enzyme TGase 1, yomwe imagwira ntchito yopanga transglutaminase 1, ndikuchepetsa ntchito ya izi enzyme mu lamellar ichthyosis.

Kuphatikiza apo, kuyesa kwama molekyulu kumatha kuchitidwa kuti muzindikire kusintha kwa majini a TGM1, komabe mayesowa ndiokwera mtengo ndipo sapezeka ndi Unified Health System (SUS).

Ndikothekanso kuti muzindikire matendawa ngakhale mutakhala ndi pakati pofufuza DNA pogwiritsa ntchito amniocentesis, komwe ndi mayeso omwe amadzetsa madzi amkati mwa chiberekero, omwe amakhala ndi maselo amwana omwe amatha kuyesedwa labotale kuti muwone kusintha kulikonse kwamtundu. Komabe, kuyerekezedwa kotere kumalimbikitsidwa pokhapokha pakakhala vuto la lamellar ichthyosis m'banja, makamaka pankhani ya ubale pakati pa abale, popeza makolo amakhala otenga mbali pakusintha kotero ndikupatsira mwana wawo.

Chithandizo cha lamellar ichthyosis

Chithandizo cha lamellar ichthyosis cholinga chake ndi kuthetsa zizindikilo ndikulimbikitsa moyo wa munthu, popeza matendawa alibe mankhwala. Chifukwa chake, ndikofunikira kuti chithandizocho chichitike malinga ndi dermatologist kapena malangizo a dotolo, povomerezedwa ndi madzi ndi kugwiritsa ntchito mankhwala ena omwe amayang'anira kuyanjana kwa ma cell ndikuthana ndi matenda, popeza khungu, lomwe ndilo chotchinga choyamba cha kuteteza chamoyo, chawonongeka mu lamellar ichthyosis.

Kuphatikiza apo, kugwiritsa ntchito mafuta ena kungalimbikitsidwe kuti khungu lizikhala ndi madzi ambiri, chotsani khungu lomwe limauma komanso kuti lisamaume. Mvetsetsani momwe mankhwala a ichthyosis ayenera kuchitidwira.