Urbach-Vite ka maʻi: symptoms, lapaʻau, prognosis

Maʻi Urbach-Vite - he loa pohihihi keia aaiaoe kāna hana, i hiki i ka autosomal recessive ano. Kumu o ka maʻi - he mutation ma ka chromosome mua i loko o ECM1'ōewe. Ma ka 'inikua moʻokalaleo he mea kekahi inoa no ka maʻi - lipoid proteinosis.

Mōʻaukala o ka Kaka

Ka mua hihia o ka maʻi, nona symptoms i pahuhopu nei me ka maʻi Urbach-Vite, i kakau i ka makahiki 1908. Ua ho'ākāka 'ia ma ka Hawaiian Kumu a me ka audiologist Friedrich Siebenmann. I ka makahiki 1925 i ka Hawaiian dermatologist a me ka histologist Iogann Misher i ho'ākāka 'ia i' ano like hihia ekolu.

Naʻe, kauoha aku ia mea he pohihihi recessive aaiaoe kāna hana i ua hoike wale ia ma 1929 ma ka dermatologist a me Urbach otolagingologom Vita. It Erich Urbach kapa pathology lipoid proteinosis, no ka mea, ka mea i manaoio aku i ka mea, ua pili i ka imbalance o lipid a me ka kumuʻiʻo hoʻokomo kālā i loko o nā nā'aʻaʻa o ke kino.

Mai ka puka i ua kakau e like me kekahi mau kumu mai ekolu haneri a hiki i eha haneri na hihia o ka maʻi nā hualoaʻa a.

symptoms

Mawaena o ka loa e like me ka symptoms o ka maʻi - poʻe noʻonoʻoʻole a puni ka lihilihi like papules (ka mea, ua i loaʻa ma ka Luba, a ai), i ka hoʻomanawanui i paa ka leo i ka leo, he mea i ka ho'ēmiʻana i loko o ka regenerative nona iho o kaʻili, mucosa ai hanaʻia naʻe, a induration o ka lolo'aʻaʻa i loko o ke kino a puni. Ka hope symptom o ka noho pilikia loa, no ka mea, hiki ke alakai i kino lobe epilepsy.

Ka maʻi hoike mai ai ia ia iho mua i loko o detstkom makahiki (3-7 makahiki). Ua i laila, ua loaʻa nō rashes ma luna o kaʻili, a me ka hoarseness.

It E e kaulana ia mau symptoms i kekahi henua, a i ka oko ao nui mai ka hoʻomanawanui i ka hoʻomanawanui. E like me ka maʻi Urbach-Vite ua ho'īli autosomal recessive, ka mea, aole i hoike ia ina ka genotype o ka maʻamau Hoʻohaku allele. Pinepine kanaka e ole i ike ia mea, e na nā moku halihali mokulele o ka mutant'ōewe. Kekahi Media mea pohihihi keia maʻi i ole symptoms. A wale ina na makua i ka'ōewe kuleana no lipoid proteinosis, i ka maʻi ke hoike mai ai ia ia iho i loko o ke keiki kakou nana.

lapaʻau '

Urbach-Vite ka maʻi mea ole ia e diagnosed no ka mea, na symptoms ia mea,ʻaʻole paʻa. Ma ka hihia o ka poʻe noʻonoʻoʻole (papules) ma luna o ka lihilihi, papular poʻe noʻonoʻoʻole ma luna o ka ili o ka ai a me ka lae,ʻike, kikowaena 'ana dermatologist.

No kēia maʻi Urbach-Vite ia MRI me Akä naÿe i hiki huai ae hoʻomāhuahua o ke kalipuna i loko o ke kino. Naʻe, i kēia symptom 'aʻole i pono ka hōʻike lipoid proteinosis. Calcification mea i ano o ka herpes simplex encephalitis a.

A kī kūlana ma kaʻike, a aaiaoe noiʻi hana keaka. I ka mea,ʻo ia ka mea e hiki ai e ike i ka oiaio, ina paha he mea kekahi ECM1'ōewe mutation, a ina paha keia mutation i alakai i ka maʻi Urbach-Vite pela,.

lapaʻau

I loko nō o ka mea i ka lipoid proteinosis i ua wehe no ka lōʻihi manawa, he mea pohihihi keia maʻi, me ka hapanui aaiaoe abnormalities hiki ole ke ola. Naʻe, ka polokalamu Aey? Acaeoey i loko o ke kula o ka biochemistry ae alleviate nui symptoms o ka maʻi.

Ke'ōlelo mai, Ua mālama i ka maikaʻi nā mea kū i ka wa e loaa ana "heparin" a me ka "dimethyl sulfoxide", eia nae,ʻaʻole i loko o nā hihia. Moʻolelo hoʻoponopono a liʻiliʻi nā māhele "dimethylsulfoxide" (Dimexidum) ma muli o ke Anati-hoʻoʻino waiwai o ka lāʻau, ho'ēmi i kā dermotropic maʻi hoike ana.

Ka hoʻohana o "D-penicillamine" no hoi i ka pomaikai, akā,ʻaʻole i lohe nui i hoʻohana. Heluʻia a me nā hihia o nā mea maʻi "Tigasonom", i ua olelo hoakaka no ka psoriasis.

Mai kalipuna palapala moʻopane ma ka lolo nā'aʻaʻa ke alakai i ka hanauna o ka oi pou lāʻau ikiʻai wale a me ka ho'āhewa wale epileptic, e hoomanawanui i hoakaka anticonvulsants ( "Metindion" "ethosuximide").

Outlook

Urbach-Vite maʻi me ka pono lapaʻau, e like me ka rula, mea ole pilikia loa. People loaa mai keia maʻi ke ola i ka lōʻihi, a piha ke ola. Akā, mākou e ole hoʻohemahema wale maʻamau kauka kipa. Aie i ka hanaʻia naʻe o ka mucousʻili lahilahi i loko o kekahi mau hihia ulu airway iaʻi. Oia nā mea maʻi e hoihoi mai ua koi patency o ka airway tracheotomy 'ole ka hoʻohana' ana i kekahi o carbon dioxide kukuna.

Ma na wahi kalipuna hoʻokomo kālā alakai i epileptic kāʻili 'ana, ia mea e pono ke ike i ka hoʻomalu-epileptolog i Nāna e koho i ka iapaau ana kūpono, ke kaumaha ma muli oolea o symptoms.