Harlequin ichthyosis: zizindikiro, kuzindikira ndi chithandizo

Zamkati

• Zizindikiro za Harlequin Ichthyosis
• Momwe matendawa amapangidwira
• Chithandizo cha Harlequin Ichthyosis
• Kodi mankhwala alipo?

Harlequin ichthyosis ndi matenda osowa kwambiri komanso obadwa nawo omwe amadziwika ndikukula kwa keratin wosanjikiza yomwe imapanga khungu la mwana, kotero kuti khungu limakhala lolimba komanso limakonda kukoka ndikutambasula, kumapangitsa kupindika pamaso ndi mthupi lonse ndikubweretsa zovuta za mwana, monga kupuma movutikira, kudyetsa ndi kumwa mankhwala.

Nthawi zambiri, ana obadwa ndi harlequin ichthyosis amamwalira milungu ingapo atabadwa kapena amakhala ndi zaka zitatu makamaka, chifukwa khungu limakhala ndi ming'alu ingapo, chitetezo cha khungu chimasokonekera, chimakhala ndi mwayi waukulu wopatsirana.

Zomwe zimayambitsa harlequin ichthyosis sizikumveka bwino, koma makolo omwe amakonda kudya amakhala ndi mwana ngati uyu. Matendawa alibe mankhwala, koma pali njira zamankhwala zomwe zimathandizira kuthetsa zizindikilo ndikuwonjezera chiyembekezo cha moyo wa mwana.

Zizindikiro za Harlequin Ichthyosis

Mwana wakhanda yemwe ali ndi harlequin ichthyosis amapereka khungu lokutidwa ndi chipika cholimba kwambiri, chosalala komanso chowoneka bwino chomwe chitha kusokoneza ntchito zingapo. Makhalidwe akulu a matendawa ndi awa:

• Khungu louma ndi khungu;
• Zovuta pakudya ndi kupuma;
• Ming'alu ndi mabala pakhungu, zomwe zimakondera kupezeka kwa matenda osiyanasiyana;
• Zofooka za ziwalo za nkhope, monga maso, mphuno, pakamwa ndi makutu;
• Kukanika kwa chithokomiro;
• Kusokonezeka kwakukulu kwa madzi m'thupi ndi ma electrolyte;
• Kusenda khungu pathupi lonse.

Kuphatikiza apo, khungu lakuthwa limatha kuphimba makutu, osawoneka, kuwonjezera pakunyengerera zala zakumapazi komanso piramidi yammphuno. Khungu lakuthwa limapangitsanso kuti zikhale zovuta kuti mwana asunthire, kukhalabe wosunthika pang'ono.

Chifukwa cha kuwonongeka kwa chitetezo cha khungu, tikulimbikitsidwa kuti khanda ili liperekedwe ku Neonatal Intensive Care Unit (ICU Neo) kuti likhale ndi chisamaliro chofunikira popewa zovuta. Mvetsetsani momwe ICU wakhanda imagwirira ntchito.

Momwe matendawa amapangidwira

Kupezeka kwa Harlequin ichthyosis kumatha kupangidwa musanabadwe kudzera mayeso monga ultrasound, omwe nthawi zonse amakhala otsegula pakamwa, oletsa kupuma, kusintha kwa mphuno, manja omwe amakhala okhazikika kapena otumbatuka, kapena pofufuza amniotic fluid kapena biopsy. a khungu la mwana yemwe angathe kuchitidwa patatha milungu 21 kapena 23 ali ndi bere.

Kuphatikiza apo, upangiri wamtundu ukhoza kuchitidwa pofuna kutsimikizira mwayi wamwana wobadwa ndi matendawa ngati makolo kapena abale apereka jini lomwe limayambitsa matendawa. Uphungu wa chibadwa ndikofunikira kwa makolo ndi mabanja kumvetsetsa matendawa ndi chisamaliro chomwe akuyenera kulandira.

Chithandizo cha Harlequin Ichthyosis

Chithandizo cha harlequin ichthyosis ndicholinga chochepetsa kuchepa kwa mwana wakhanda, kuchepetsa zisonyezo, kupewa matenda ndikuwonjezera chiyembekezo cha moyo wa mwana. Mankhwalawa ayenera kuchitika kuchipatala, chifukwa khungu limaphwanya komanso khungu limakonda matenda ndi bakiteriya, zomwe zimapangitsa kuti matendawa azikhala ovuta komanso ovuta.

Chithandizocho chimaphatikizapo kuchuluka kwa mavitamini A opangira kawiri patsiku, kuti apange khungu, motero kumachepetsa zilonda pakhungu ndikulola kuyenda kwambiri. Kutentha kwa thupi kuyenera kusungidwa ndikuwongolera khungu. Pofuna kuthirira khungu, madzi ndi glycerin kapena emollients amagwiritsidwa ntchito paokha kapena amaphatikizidwa ndi mankhwala omwe ali ndi urea kapena ammonia lactate, omwe amayenera kugwiritsidwa ntchito katatu patsiku. Mvetsetsani momwe mankhwala a ichthyosis ayenera kuchitidwira.

Kodi mankhwala alipo?

Harlequin ichthyosis ilibe mankhwala koma mwana atha kulandira chithandizo akangobadwa ku ICU ya neonatal yomwe cholinga chake ndikuchepetsa mavuto ake.

Cholinga cha mankhwalawa ndikuteteza kutentha ndi kutentha khungu. Mlingo wa vitamini A wopangidwira umaperekedwa ndipo, nthawi zina, maoparesi a khungu amatha kuchitidwa. Ngakhale zinali zovuta, patatha masiku pafupifupi 10 ana ena amatha kuyamwitsidwa, komabe pali ana ochepa omwe amafika chaka chimodzi chamoyo.