Urbach-Vite ta cuta: cututtuka, magani, hangen nesa

Cuta Urbach-Vite - wani musamman rare kwayoyin cuta, daukar kwayar cutar a cikin wani autosomal recessive hanya. Hanyar cutar - mai maye gurbi a farko chromosome a ECM1 gene. A likita wallafe-wallafen akwai wani sunan da cutar - lipoid proteinosis.

Tarihi na samu

A farko idan da cutar, wanda cututtuka su ne daidai da cutar Urbach-Vite, aka rajista a 1908. Yana bayyana Swiss farfesa kuma audiologist Friedrich Siebenmann. A shekarar 1925 wani Swiss likitan fata da kuma histologist Iogann Misher bayyana uku irin wannan lokuta.

Duk da haka, a hukumance shi ne a rare recessive kwayoyin cuta da aka ruwaito kawai a 1929 da likitan fata da kuma Urbach otolagingologom Vita. Yana Erich Urbach kira Pathology lipoid proteinosis, saboda ya yi imani da cewa shi ne alaka da wani rashin daidaituwa daga sia gina jiki adibas a cikin tsokoki na jiki.

Tun bude An lasafta su bisa ga daban-daban kafofin daga ɗari uku zuwa hudu da ɗari lokuta da cutar a duk duniya.

cututtuka

Daga cikin mafi kowa bayyanar cututtuka da cutar - rash a kusa da eyelids kamar yadda papules (su ma samuwa a kan Luba kuma wuyansa), da mãsu haƙuri zama wanda muryarsa ta duƙushe murya, akwai wani raguwa a regenerative iya aiki na fata, mucosa thickening da induration na kwakwalwa nama a cikin boko yankin. A karshe alama ne mai hatsari domin shi zai iya kai wa ga boko lobe epilepsy.

Cutar farko bayyana kanta a detstkom shekaru (3-7 years). A sa'an nan da akwai rashes a kan fata, da kuma hoarseness.

Ya kamata a lura da cewa wadannan cututtuka su ne shubuha kuma iya bambanta ƙwarai daga haƙuri ga mãsu haƙuri. Kamar yadda cutar Urbach-Vite yana daukar kwayar cutar autosomal recessive, shi ba ya bayyana kanta idan genotype na da wata al'ada rinjaye allele. Sau da yawa mutane ba su ma gane cewa su ne masu dako na mutant gene. Wasu kafofin watsa labarai ne a rare cutar bata da cututtuka. Kuma kawai idan iyaye biyu da gene alhakin lipoid proteinosis, cutar za a iya bayyana kanta a cikin zuriyarsa.

bincikowa da

Urbach-Vite ta cuta ne da wuya za a yi fama, saboda bayyanar cututtuka shi ne, ba na kowa da kowa. A cikin hali na wani kurji (papules) a kan eyelids, papular rash a kan fata na cikin wuyansa, kuma goshi, ganewar asali ya hada da ziyartar likitan fata.

Domin da ake zargi da cuta Urbach-Vite sanya MRI ba tare da bambanci wanda za a iya gane jari na alli a cikin jiki. Duk da haka, wannan alama ba dole ba ne nuna lipoid proteinosis. Calcification ne ma halayyar herpes simplex encephalitis kuma.

A muhimmiyar rawa a cikin ganewar asali da kwayoyin bincike plays. Wannan shi ya sa ya yiwu don ƙayyade domin tabbatar da ko akwai wani ECM1 gene maye gurbi, kuma idan haka ne, ko da wannan maye gurbi yi gubar zuwa cuta Urbach-Vite.

magani

Duk da cewa da lipoid proteinosis da aka bude na dogon lokaci, shi ne mai rare cuta, kamar yadda mafi kayyade munanan ba za a iya warke. Duk da haka, da latest aukuwa a cikin filin Biochemistry damar rage yawa bayyanar cututtuka da cutar.

Saboda haka, tabbatacce Trend aka lura lokacin samun "heparin" da "dimethyl sulfoxide", ko da yake ba a dukkan lokuta. Na baka gwamnati na kananan allurai "dimethylsulfoxide" (Dimexidum) saboda anti-mai kumburi Properties na da miyagun ƙwayoyi, rage dermotropic cutar manifestations.

Da amfani da "D-penicillamine" kuma ya da wani rabo, amma ba yadu amfani. Rajista da kuma lokuta da marasa lafiya "Tigasonom", wanda aka fiye wajabta psoriasis.

Tun da alli shaida a kwakwalwa tsokoki iya kai ga ƙarni na wuce haddi lantarki hatsaisai da farfadiya harin, marasa lafiya wajabta anticonvulsants ( "Metindion" "ethosuximide").

Outlook

Urbach-Vite cuta da ta dace da magani, kamar yadda mai mulkin, ba hatsari. Mutane fama da wannan cuta za su iya rayuwa mai tsawo da kuma cikakken rai. Amma ya kamata mu yi sakaci da na yau da kullum likita ziyara. Saboda da kauri da mucous membrane a wasu lokuta tasowa airway shãmakacẽwa. Irin wannan marasa lafiya don mayar patency na airway ake bukata tracheotomy ko yin amfani da wani carbon dioxide Laser.

A lokuta inda alli adibas kai ga farfadiya seizures, shi wajibi ne don ganin wani gwani-epileptolog wanda ance da ya dace magani, dangane da tsanani daga cututtuka.