Harlequin ichthyosis: hōʻailona, ​​ʻike a me nā lāʻau

Anter

• Nā ʻōuli o Harlequin Ichthyosis
• Pehea e hana ʻia ai ke kuhi
• Mālama ʻo Harlequin Ichthyosis
• Aia he hoʻōla?

ʻO Harlequin ichthyosis kahi maʻi laha ʻole a koʻikoʻi hoʻi i ʻike ʻia e ka mānoanoa o ka papa keratin e hana ana i ka ʻili o ka pēpē, no laila mānoanoa ka ʻili a loaʻa i kahi ʻano huki a hoʻolōʻihi, e hana ana i nā deformations ma ka maka a ma ke kino āpau a lawe mai i nā pilikia. no ka pēpē, e like me ka paʻakikī o ka hanu ʻana, hānai ʻana a me ka lawe ʻana i kekahi mau lāʻau.

ʻO ka maʻamau, ʻo nā pēpē i hānau ʻia me ka ichthyosis harlequin e make i kekahi mau pule ma hope o ka hānau ʻana a i ʻole ke ola ʻana a hiki i ka makahiki 3 i ka hapanui, no ka mea he mau māwae ka ʻili, ua hoʻopilikia ʻia ka hana pale o ka ʻili, me ka manawa kūpono o nā maʻi hou.

ʻO nā kumu o ka harlequin ichthyosis ʻaʻole i maopopo piha, akā ʻoi aku ka nui o ka loaʻa ʻana o ka pēpē e nā mākua consanguineous e like me kēia. ʻAʻohe o kēia maʻi i hoola ʻia, akā aia kekahi mau koho lapaʻau e kōkua ai e hōʻoluʻolu i nā hōʻailona a hoʻonui i ke ola o ka pēpē.

Nā ʻōuli o Harlequin Ichthyosis

Hāʻawi ka hānau hou me ka ichthyosis harlequin i ka ʻili i uhi ʻia e kahi mānoanoa, pahee a me ka opaque plaque i hiki ke hoʻopilikia i kekahi mau hana. ʻO nā hiʻohiʻona nui o kēia maʻi:

• ʻIli maloʻo a wīwī hoʻi;
• Nā paʻakikī i ka hānai ʻana a me ka hanu ʻana;
• Nā māwae a me nā ʻeha ma ka ʻili, kahi e makemake ai i ka hanana o nā maʻi like ʻole;
• Nā hiʻohiʻona o nā ʻāpana o ka maka, e like me ka maka, ka ihu, ka waha a me nā pepeiao;
• Hana hewa o ka thyroid;
• ʻO ka make wai loa a me nā haunaele electrolyte;
• ʻO ka ʻiliʻili ʻana i ka ʻili a puni ke kino.

Hoʻohui ʻia, hiki i ka ʻāpana mānoanoa o ka ʻili ke uhi i nā pepeiao, ʻaʻole ʻike ʻia, ma ka hoʻohui i ka hoʻopilikia ʻana i nā manamana lima a me nā manamana wāwae a me ka pyramid nasal. ʻO ka ʻili mānoanoa kekahi mea paʻakikī i ka neʻe ʻana o ka pēpē, noho i kahi neʻe semi-flexed.

Ma muli o ka hōʻino ʻia o ka hana pale o ka ʻili, koi ʻia e hāʻawi ʻia kēia pēpē i ka Neonatal Intensive Care Unit (ICU Neo) e mālama pono i mea e hōʻalo ai i nā pilikia. Hoʻomaopopo i ka hana ʻana o ka neonatal ICU.

Pehea e hana ʻia ai ke kuhi

ʻO ke kuhi o Harlequin ichthyosis hiki ke hana ʻia ma ka mālama prenatal ma o nā hoʻokolohua e like me ultrasound, e hōʻike mau nei i ka waha hāmama, kaohi ʻana o ka neʻe ʻana o ka hanu, ka hoʻololi o ka ihu, nā lima i hoʻopaʻa mau ʻia a i kui ʻia paha, a i ʻole ma o ke kālailai ʻana o ka wai amniotic a i ʻole biopsy. o ka ʻili fetus i hiki ke hana ʻia ma 21 a 23 mau pule hānau.

Eia hou, hiki ke hana i nā ʻōlelo aʻoaʻo kūʻē i mea e hōʻoia ai i ka manawa o ka hānau ʻana o ka pēpē me kēia maʻi inā hōʻike nā mākua a i ʻole nā ​​ʻohana i ka ʻāpana i kuleana no kēia maʻi. He mea nui ka ʻōlelo aʻoaʻo genetic no ka hoʻomaopopo ʻana o nā mākua a me ka ʻohana i ka maʻi a me ka mālama e pono ai lākou e mālama.

Mālama ʻo Harlequin Ichthyosis

Hoʻopaʻa ka lāʻau no ka harlequin ichthyosis e hōʻemi i ka hōʻoluʻolu o ke keiki hānau hou, hoʻomaha i nā ʻōuli, pale i nā maʻi a hoʻonui i ke ola o ka pēpē. Pono e hana i ka lāʻau ma ka haukapila, ʻoiai ʻo nā ʻiʻo a me ka ʻili ʻana o ka ʻili e makemake i ka maʻi i loaʻa i nā koʻohune, a ʻoi aku ka koʻikoʻi a paʻakikī hoʻi o ka maʻi.

Hoʻopili ka mālama i nā lāʻau o ka synthetic vitamina A i ʻelua mau manawa i ka lā, e hoʻolako i ka hoʻololi hou ʻana o ka pūnaewele, no laila e hōʻemi ana i nā ʻeha i loaʻa i ka ʻili a ʻae i ka neʻe nui. Pono e mālama i ka mahana o ke kino ma lalo o ka kaohi a hydrated ka ʻili. E hydrate i ka ʻili, hoʻohana ʻia ka wai a me ka glycerin a i ʻole emollients a i ʻole hoʻopili ʻia me nā formulate i loaʻa ka urea a i ʻole ka amonia lactate, a pono e hoʻopili ʻia he 3 mau manawa i ka lā. Hoʻomaopopo pehea e pono ai ka mālama ʻana i ka ichthyosis.

Aia he hoʻōla?

ʻAʻohe lāʻau i Harlequin ichthyosis akā hiki i ka pēpē ke loaʻa i ka lāʻau lapaʻau ma hope pono o ka hānau ʻana i ka neonatal ICU e pili ana i ka hōʻemi ʻana i kona pilikia.

ʻO ka pahuhopu o ka mālama ʻana e kaohi i ka mahana a hydrate i ka ʻili. Lawe ʻia nā hana o ka wikamina A synthetic a, i kekahi mau manawa, hiki ke hana i nā ʻoki autograft ʻili. ʻOiai ka paʻakikī, ma hope o 10 mau lā ua mālama ʻia nā pēpē e hānai ʻia i ka umauma, akā naʻe aia kekahi mau pēpē i hiki i ka 1 makahiki o ke ola.