Hurler's Syndrome: Sanadin, magani da hotuna

Mucopolysaccharidosis shine sunan kowa don yawan cututtuka da dama wadanda suke da yanayin halitta. Harkokin cututtuka na tasowa saboda rashin cikin jiki na wasu enzymes wanda ke taimakawa wajen karya gashi da carbohydrates cikin kwayoyi masu sauƙi. Wannan labarin yayi nazarin rubutun mucopolysaccharidosis 1 - ciwo na Hurler.

Dalilin

Kwayar cutar tana da tsinkaye a cikin wani tsarin da ba zai yiwu ba. Tana tasowa saboda rashin lafiya a musayar mucopolysaccharides.

Binciken

Mucopolysaccharidosis yana nufin abin da ake kira lysosomal jari-cututtuka. A sakamakon rashi na enzymes lysosomal, catabolism na glycosaminoglycans ne hampered. Suna tarawa cikin kyallen takalma da gabobin jiki, suna rushe aiki na jiki da tsarinta. Da farko, ana cike kwarangwal da ci gaban jiki.

Alamar waje da bayyanar cututtuka na cutar

An gano cututtukan cututtukan cututtuka a cikin nau'i na ɓarna a cikin kashi, haɗin kai, takalma cartilaginous. Babban alama alama ce ta ci gaba. Ana iya samun wannan bayyanar a baya fiye da sauran, yawanci ta ƙarshen shekara ta farko ta rayuwa ya zama bayyananne cewa yaron ya lalace a ci gaba.

Har ila yau, mucopolysaccharidosis za a iya dauka ta hanyar ganin abubuwa masu fasali. A marasa lafiya tare da babban harshe, hypertelosyrum (nisa sosai tsakanin gabobin biyu, a cikin wannan yanayin a tsakanin idanun), ƙananan kunnuwa, goshin rataye, hakoran suna tayi.

Alamun sun hada da mucopolysaccharidosis thorax nakasawa, ya bayyana kyphosis na thoracolumbar kashin baya. A yayin da aka fitar da X-ray, yana yiwuwa a gano ƙaddarar da ba a yi ba a lokacin da aka yi amfani da shi a cikin asibiti-parietal ba tare da kullun ossification nuclei ba.

A mafi yawancin lokuta, cutar ta haɗu da iyakancewar haɗin gwiwa, hawan da ke ciki, hepatosplenomegaly (fadada hanta da kuma yaduwa saboda yadda ake aiwatar da kwayoyin halitta sakamakon cutar).

Daga gefen ilimin ilimin lissafi, hawan motsa jiki da tsinkayen kwayoyin halitta an lura. Bugu da ƙari, tare da mucopolysaccharidosis, akwai raunin jiji da ragewa a hankali, har zuwa mummunar lalacewa. A sakamakon sakamakon ciwon ci gaba na cike da kwarangwal, ɓangarorin ciki suna cikin damuwa a cikin digiri daban-daban.

Irin mucopolysaccharidosis

Akwai nau'o'in cututtuka daban-daban da suka bambanta a cikin matsanancin canje-canje na kasuwa da nakasassu na tunanin mutum:

• I - Hurler na ciwo.
• II - Gunther ta ciwo (Hunter).
• III - Sanarwar Sanfilippo.
• IV - Ciwo na Morkio.
• VI - Maroto-Lamy ciwo.
• VII - Slia ciwo.

Ƙididdiga a ayyukan likita na kasashe daban-daban na iya bambanta. A cikin nau'in V, an ƙaddara yawan ciwon sikila. A cikin al'ummar Amirka, marasa lafiya tare da mucopolysaridosis sun rabu da ƙananan bayyanar cututtuka irin na farko da kuma rarrabe abubuwa uku: annobar Hurler, Ciwon Sikiyya da kuma tsaka-tsaki tsakanin su Hurler-Scheye syndrome (mafi tsanani daga cikinsu, Chelier da mafi sauki).

Hurler ta ciwo

Wannan nau'in yafi kowa fiye da sauran kuma an bayyana shi a baya fiye da sauran cututtuka. Bugu da ƙari, hoto na asibiti shine mafi mahimmanci da kuma irin nau'o'in mucopolysaccharidosis.

Ciwo na mai gaggawa yana tasowa sakamakon sakamakon yalwar da aka samu na gado. Irin wannan cututtuka yana cike da ci gaba sosai. Duk da cewa cewa mucopolysaccharidosis na farko nau'i ne kama da na biyu (Gunther, ko Hunter), wannan shi ne mafi rikitarwa cuta. A karo na farko an bayyana wannan nau'in a cikin 1919 da Gertrude Hurler (saboda haka daidai sunan shine Hurler syndrome, ba Hurler) ba. Yanayin abin da ya faru ya kasance daya ne ga mutane 20-25, kuma a mafi yawan lokuta masu iyaye marasa lafiya suna cikin dangantaka ta jini. Sabili da haka, idan aka gano asali daga "Ciwo na Hurler," dole ne a nemi dalilai a matakin jinsi. Kwayoyin cututtuka sun bayyana kusan bayan haihuwar, kuma ta shekara ko biyu an riga an bayyana cikakken hoto hoton.

Ciwo na mai fashewa shine bayyanar yanayin cutar. Yayinda cutar ta tasowa, ci gaba yana raguwa, ana iya gani a fili na canea, tasoshin hanci suna cike da jini. A wannan nau'i na cutar a X-ray za a iya gano fadada sella, rage da tsawo na dogon kasũsuwa, ashe, vertebral hypoplasia, kuma sharpness na lumbar yankin (abin da ake kira kifi vertebrae), da vertebral shafi nakasawa (marasa lafiya sha thoracolumbar kashin baya kyphosis da lordosis). Kwayoyin cututtuka na tsarin jijiyoyin jini sun fara - cututtuka na jijiyoyin jijiyoyi, gurguzu, myocardium, sauyawa endocardium, zuciya yana girma cikin girman.

Akwai hydrocephalus, dalilin da ake ciki shine adadin mucopolysaccharides a cikin meninges. An ƙaddara ƙaddarar ƙaddamarwa. Ana kuma sanya adadin mucopolysaccharides a cikin hanta, yalwa, epithelium daga cikin ƙananan tubules; Sugar, sclera, cornea na ido; Nura Kwayoyin, Guringuntsi.

Yayinda aka haifa da halayen halayen halayya - suna da matukar mahimmanci, masu fasali, saboda sunan da ake kira mukopolisaharoidozov - gargoilizm (daga kalmar "gargoyle" - wani abu mai ban mamaki da siffofin sabon abu), ciki har da abin da ake kira da ciwo na Hurler. Hotunan da ke nuna marasa lafiya suna kwatanta irin rawar da yaron ke ciki. A cikin irin waɗannan yara, an canza kwanyar - yana ɗaukar nau'in jirgin ruwa, wanda ake kira scaphocephaly, hanci mai haske, ƙanshi mai laushi, babban harshe, goshi mai tsayi, wuyan wuyansa da halayen fuskar mutum. Outwardly, shi da gaske kama hanyar dace mythological Gargoyles.

Har ila yau, suna da katangar gajarta, ƙananan ƙwayoyin ƙasa, akwai alamomi na kyphosis, ɗakunan (musamman yatsun hannu da yatsun) suna aiki, akwai ƙwayar cuta da zafin jiki. Nails iya ɗauka nau'i na gilashin agogon, gashi ya zama m da bushe, murya - m da husky. Kwanciyar kurari ko ma kururuwa. Magunguna sukan sha wahala daga ciwon hakori, wanda ke haifar da ciwo na Hurler.

Kwayoyin cututtuka sun hada da cututtuka na numfashi, saboda wannan yaron yana numfashi bakinsa, yana da adenoids, yana da alaka da cututtukan cututtuka. Bayan lokaci, ya ci gaba da matsaloli na mucopolysaccharidosis da hanta tare da hanta da kuma yaduwa (sakamakon haka, an ci gaba da ciki), lalata.

Girman girma ya kasance dwarfish. Saboda jiki mara kyau da nakasa daga kashin baya, marasa lafiya suna tafiya a kan kafafu na hamsin, a kan kusurwa.

Ciwo na mai sauri na Hurler yana da wani ci gaba mai zurfi, saboda haka rashin lafiyar marasa lafiya yana da sauri. Mutane da yawa ba su rayu har shekaru 10 ba.

Diagnostics

Mai haƙuri ya buƙaci gudanar da aikin asibiti, radiologic, biochemical, genealogical, da kwayoyin halitta. Binciken ganewa yana dogara ne akan bayyanuwar cutar ta asibiti, bisa tushen X-ray da kuma aikin gaggawa, wanda ke ƙayyade ayyukan enzymes da ƙwaƙwalwar glycosaminoglycans.

Jiyya na mucopolysaccharidosis

Idan wanda aka samu lafiya ya kamu da cutar "Hurler's syndrome", ya kamata ya kamata a lura da lafiyar. Ana lura da marasa lafiya a cikin kothopedist, likita mai fiɗa, likitancin, likitan kwararru, neurosurgeon, masanin ophthalmologist da neurologist. Mai haƙuri yana shawo kan gyaran ƙwayoyin cuta, ya kawar da hernias, yana shawo kan cututtukan cututtuka a cikin marasa lafiya, jijiyar ji, otitis, sinusitis. Har ila yau a karkashin kallo shi ne tsarin kwakwalwa.

Magunguna masu amfani da sinadarai waɗanda ke inganta yanayin lafiyar dan lokaci:

• Glucocorticoids,
• Corticotropin,
• Thyroidin.

Bugu da ƙari, an nuna alamar bitamin A, dextran 70, wanda ya inganta yanayin kwanciyar hankali na dan lokaci. Sakamakon ingantaccen lokaci a cikin transfusion na shirye-shiryen plasma jini.

A cikin yanayin Gurler na ciwo, za a iya ba da magani ga likitanci: Lidase electrophoresis a kan yanki mai kwakwalwa, fatar laser, magnetotherapy, aikace-aikace na paraffin. Ana kuma bada shawarar cewa marasa lafiya su shiga cikin farjin jiki, wanda ɗayan su ya shafi shafuka da kashin baya. Sakamakon kyakkyawan sakamako yakan ba da tausa.

Tun da marasa lafiya da Gurler sun kamu da cutar cututtuka, yana da muhimmanci a san lokacin da ya kamu da cututtuka a baki da nasopharynx.

Don lura da irin nau'in mucopolysaccharidosis 1, anyi amfani da tsoma-tsakin tsoma baki-gyare-gyare na jiki da gyara gyaran ƙwayar valvular da nakasa. A kasa da kasa yi, ban da symptomatic magani da kwayoyi, physiotherapy ko tiyata amfani da enzyme far da kuma kara cell dasawa.

Idan ya cancanta, da haƙuri da aka kwashe gryzheissecheniya, adenoidectomy, antiglaucomatous aiki, tracheostomy,} afar roba hip gidajen abinci, hydrocephalus shunt, da dai sauransu ..

Hasashen

Mahimmancin ya zama mara kyau ga duka ciwon Hurler da sauran siffofin da ke da mucopolysaccharidosis. Ciwo na Hurler shi ne mafi kuskure. Canje-canje a cikin kwarangwal yana karuwa a kowace shekara, saboda sakamakon abin da kwayoyin da tsarin ke fuskanta da manyan ƙetare. Idan yaron bai mutu ba daga ciwon huhu a lokacin da ya fara, tun yana da shekaru 7-12, an rigaya ya ci gaba da jiki. Har sai matashi yana rayuwa kaɗan.

Rigakafin

Ba shi yiwuwa a hana wannan cuta. Amma zaka iya samun shi a farkon mataki - tare da ganewar ganewa. A saboda wannan dalili, an yi nazarin kwayoyin amniotic don raunin enzyme (a cikin yanayin kasancewa mai kyau, zubar da ciki yana da shawarar).

Saboda samin asali da wuri da kuma kulawa da kwanciyar hankali na ciwon ƙwayar ƙwayar katako, ana iya kaucewa lalacewar jijiyar rashin lafiyar. Domin prophylaxis, shawara na kwayoyin likita yana da muhimmanci.

Fahimtarwar jiyya

Duk da matsalolin da ake fuskanta game da maganin ciwo na Gurler, an yi amfani da ƙwayar launuka na kashi a kasashe da dama da suka ci gaba a cikin shekaru 20 da suka wuce, wanda hakan ya inganta ingantaccen rayuwar marasa lafiya. Domin fiye da shekaru 10, an yi amfani da magungunan maganin maganin duk wani bayyanar da mucopolysaccharidosis da ba'a ba.