Zellweger syndrome: incazelo, izimbangela, izimpawu kanye nezici ukwelashwa

Kunezindlela eziningana ngofuzo izifo umzimba, mayelana nokuthi iziphi izinhlelo ezimbalwa abantu bazi. Phela, ezinye zalezi pathologies ezingajwayelekile kakhulu. Ngeshwa, iningi izifo lezinceku kakhudlwana futhi ezinzima akasabeli ukwelashwa. Ngokuvamile, benza bona wazizwa eminyakeni yokuqala yokuphila. Omunye izifo ezifana kubhekwa Zellweger syndrome (Bove isifo). It is phetho izinguquko isimiso sezakhi zofuzo. Lesi sifo namanje obumba esibelethweni. Ngeshwa, zokugula kubhekwa ezingavamile kangangokuba akuvamile kutholakala ukuthi uphethwe yini ngesikhathi ukhulelwe. idatha eqondile nobuningi nesenzakalo lesi sifo abafana namantombazane ayitholakali.

Zellweger syndrome: incazelo zokugula

Kuyaziwa ukuthi isifo kungokwalabo iziyaluyalu iqembu peroxisomal. Enye igama sifo - kuyinto "tserebrogepatorenalny syndrome." Ngesisekelo leli gama ukuqonda lapho izitho iyathinteka nalesi sifo. Kuyini Zellweger syndrome ne kungani kwenzeka? Izimpendulo zale mibuzo alazi ososayensi. It is, eyaziwa kuphela ingxenye ezincane zolwazi olumayelana kwezinso ezinjalo. Ngempela, izigameko zalesi sifo amancane ukuze akunakwenzeka ukuhlola ngokugcwele. Ngeshwa, ngalesi sikhathi onalesi sifo isifo enjalo iyadumaza. Izingane ezizalwe kokutshelwa ngokukhubazeka kwengane, kuyaqabukela ephile iminyaka enyakeni 1. Lokhu kungenxa izimpawu ezinamandla zokugula. Phakathi kwabo - nokubambezeleka of lengqondo nokuthuthukiswa ngokomzimba, izinso kanye yokwehluleka kwesibindi. Ngaphezu kwalokho, Zellweger syndrome ivame ukuhlotshaniswa nezinye anomalies. Ezinye kombungu aluhambisani nawo ekuphileni. Okwamanje akukho idatha okunokwethenjelwa ngokuphathelene nakho ngabe anomalies zibangelwa asanele noma peroxisome bona ziyaphuma zokugula njengochwepheshe abazimele. ukuphathwa Etiological yalesi sifo engekho.

Zellweger syndrome: izimbangela zezifo

Tserebrogepatorenalny syndrome ngenxa ukwehluleka organelles yeselula - peroxisome. Ziyakwazi ezidingekile redox izinqubo. Uma peroxisomes bengekho, ukuthuthukisa thuthuva kwamakhemikhali. Imbangela Zellweger syndrome kubhekwa burdened nga ngalindelekile ufuzo. Kuyaziwa ukuthi lesi sifo sesidlule kubazali i mfanelo autosomal esikhubazayo. ukuhluleka Cell elihlobene ne ukuguquka kwezakhi zofuzo 1, 2, 3, 5, 6, 12 peroksinov zofuzo. Naphezu kweqiniso lokuthi ososayensi bathole ukuthi yini izinguquko zenzeka emzimbeni lapho tserebrogepatorenalnom syndrome, kungani uthuthukisa, ayikaziwa. Mhlawumbe, ngaphezu umlando womndeni, ukuvela pathologies kuthinte trigger. Phakathi kwabo - emiphumeleni elimazayo zamakhemikhali emzimbeni nokuthumba owesifazane owayezithwele, engumlutha wotshwala nezidakamizwa. Futhi, zofuzo ingaqala ngenxa ukucindezeleka.

Lwasemtholampilo isithombe Zellweger syndrome

Zellweger syndrome (Bove isifo) libhekene izinguquko zobuchopho, izinso kanye esibindini. zokugula okusolwayo kungaba ngokushesha emva kokuzalwa. Izingane nalesi sifo, ozalwa isisindo ongaphakeme futhi wazwakalisa dysmorphia Yekhanda. Le ndawo frontal ephawulwe iqhubu, fontanelle encane anda ubukhulu. izimpawu Kubhekiwe ezifana "ulwanga gothic", iphimbo, aba occipital. inombolo enkulu imibimbi ebonwe intamo kuzalwa.

Ezinyangeni zokuqala zokuphila kutholwa zokugula wokugaya ukudla. Phakathi kwabo - lesi sifo ka cholestasis, jaundice, hepatomegaly. Kwezinye izimo ama-adrenal yoma. Ekuhloleni izinhlumba isibindi nezinso ezitholiwe (ngaso sonke isikhathi). Ngaphezu kwalokho, okuphawulekayo ezibukwayo ukungakhuli. Phakathi kwabo, - cataract azalwa naso, ukufiphala kwamehlo ingaphazamisi corneal samehlo. Kwezinye izimo, le-optic disk yoma. Ngokusekelwe kulezi zimpawu, singaphetha ngokuthi isiguli Zellweger syndrome. Ngaphezu lokhu kubonakaliswa avamise waphawula anomalies inhliziyo, ezithweni zangasese.

iziyaluyalu zezinzwa

Ngokwezinga elikhulu abathintekayo isimiso sezinzwa nge Zellweger syndrome. Kusukela zikhathi yokuqala yokuphila kwengane kungathola imisipha hypotonia, ukungabi khona ingqondo. Ngenxa yobuthakathaka imisipha ingane ayikwazi ncela ebeleni likanina. On luhlolo, ke imakwe nystagmus zamazwe amabili. Esisodwa sokuphazamiseka zezinzwa kuyinto Ukudlikizela, okungase kubangele ukufa. ukuthuthukiswa lengqondo wengane ayihambisani yobudala bakhe. + Lapho ingqondo luhlolo wembula ekuqongeleleni ngokweqile cerebrospinal fluid (gidrotsefiliya) olubushelelezi convolutions futhi imisele.

ukuhlola

Sifo "Zellweger syndrome" kusethelwe ngesisekelo emitholampilo izimpawu idatha viscera survey. Naphezu kweqiniso lokuthi lesi sifo singumbulali inhlanganisela ezingavamile kakhulu izimpawu umonakalo kwengqondo, isibindi nezinso ivumela ukusola kwakhe. izici Clinical yilezi: ugebhezi dysmorphia, hypotonia futhi areflexia. On luhlolo Kutholwe i-jaundice, ukuwaphendula ukukhanyisa futhi umsindo. Imiphumela yaloku kuhlola okungenhla kungenzeka ngaphezulu ngemva Ukuhlolwa amehlo. On ultrasound esiswini wembula ukuqina Bile syndrome, hepatomegaly, yoma of nezindlala adrenal, izinhlumba. Phakathi wokubhoboza, isibindi cystic kutholwa. aphansi esitho amathambo esimweni lembula dysplasia, nedolo hip. Ngaphezu kwalokho, kungase kube kwezinso of inhliziyo, izinso kanye Izitho zokuzala.

Imiphumela yaloku kuhlola okungenhla yokugcina isethwe emva igazi oyisazi samakhemikhali ezinto eziphilayo. Ukuba khona isifo kungashiwo ngokunemba emazingeni aphezulu ku-plasma peroxysomal acid. Futhi wenziwa uphethwe zofuzo.

Izinkinga peroxisome pathologies

Zellweger syndrome yezinkinga ziyabulala. Zingase kuhlotshaniswa angahlangani kwezitho zangaphakathi noma ubuchopho. yezinkinga ezinzima zihlanganisa acute esingamahlalakhona hepatic futhi kwezinso, ukuquleka generalized, iphimbo. Kwezinye izimo ukuthuthukisa ezinzima nemiphumela kubangelwa inhliziyo kwezinso. Phakathi kwabo - uzwakalise ukwehluleka kwegazi, umfutho wegazi ophakeme yamaphaphu. Ukuwohloka Progressive ngenxa hypotension, njengoba kukhona ubuthakathaka imisipha zokuphefumula. ukuphathwa isifo - lingaze. Lokhu kuhlanganisa - umsoco parenteral, ukuphatha izidakamizwa anticonvulsant (nomuthi "Seduxen", "Phenobarbital"), uma kunesidingo - le mpilo.

Onalesi sifo izifo peroxisome

Zellweger syndrome - isifo, ukwelashwa okwamanje athuthukile. Ngeshwa, onalesi sifo yalesi sifo okungekuhle. Ezimweni eziningi, izingane ngeke zilunge ukwenza unyaka 1. umphumela Lethal kwenzeka ngenxa kwezinso ezinzima yezitho zangaphakathi noma yezinkinga lesi sifo.