Cockayne ciwo: a kayyade hanyar, photos

Cockayne ciwo ne mai rare kayyade Pathology, ko cuta da ake kira Neal Dingwall. A da ginshikin - shi ne wani anomaly na juyayi tsarin cewa halin da bai kai ba tsufa na mutum wada, fata raunuka, illa wahayi da kuma ji.

definition

Cockayne ciwo - shi ne wani autosomal recessive neurodegenerative cuta, wanda ya bayyana saboda take hakkin DNA gyara inji. Irin wannan marasa lafiya ne da rauni, su ne m zuwa ga haske saboda gani analyzer Pathology ne cuta na juyayi tsarin, kazalika da raya ci gaban cuta na daya ko duka na ciki gabobin. Irin wannan canje-canje ne saboda m da m ƙasƙanci farin m.

Yara tare da wannan cuta sukan rayuwa game da shekaru goma, amma an rajista rare lokuta da suka isa} uruciyarsa. Masana kimiyya iya gane abin da takamaiman canje-canje a cikin kayyade kayan lura a wannan ciwo, amma dangantakar da lalacewa da kuma na asibiti manifestations da ya rage wani asiri.

Tarihi da binciken

Cockayne ciwo ne mai suna bayan da Turanci likita wanda ya rayu a karni na ashirin, Edward Cockayne. Ya farko ci karo da bayyana cutar a 1936. Shekaru goma da daga baya ya zo da wani daga cikin articles kishin wannan Pathology.

Na biyu sunan cuta samu ta hanyar aiki da wasu mata biyu: Marii Dinguoll da Ketrin Nill, wanda wallafa lura da tagwaye da cututtuka kama da marasa lafiya Cockayne. Bugu da ƙari kuma, su da za'ayi a layi daya da juna nosology - progeria, waxanda suke da halayyar irin na asibiti manifestations.

dalilai

Ta yaya za a iya kimiyya bayyana bayyanar da irin wannan cututtuka kamar Cockayne ciwo? A dalilan karya a lalace loci na biyu genes - CSA da CSB. Su suke da alhakin tsarin da enzymes hannu a gyara lalace DNA shafukan.

Akwai ka'idar bisa ga abin da lahani shafi gyara kawai aiki genes kawai. Wannan bayani za a iya bayyana ta da cewa, duk da babban ji na ƙwarai to UV haske, mutane tare da wannan cuta ba wahala daga fata ciwon daji.

Ware ma gauraye siffofin da cuta, a lokacin da lalacewa ne har yanzu a wuri HRW (D ko G). Sa'an nan zuwa ga babban manifestations na ciwo shiga neurological bayyanar cututtuka.

siffar

Cockayne ta ciwo, dangane da yanayi da kuma sarrafawa kwayoyin halitta rauni za a iya raba hudu iri.

1. Nau'i na farko, ko classic. Yana halin morphologically al'ada yaro haihuwa. Bayyananen da cutar bayyana a farko 'yan shekaru na rayuwa. Ji da gani tabarbarewa.Idan, ya fara sha farko na gefe sa'an nan tsakiya m tsarin, har ya zuwa atrophy na cerebral bawo, ko da yake ba kamar yadda m kamar yadda a wasu siffofin. Mutum ya mutu kafin kai da shekaru ashirin.
2. Nau'i na biyu na Pathology za a iya bincikar lafiya a haihuwa. Neonatologist bayyana a sosai rauni ci gaba da juyayi tsarin, babu m reflexes da kuma halayen wa samuwar kasashe. Yara kashe har zuwa shekaru bakwai. Wannan nau'i aka sanshi a matsayin Pena Shokeyr ciwo. Marasa lafiya lura karu a cikin kudi na myelination da calcification na juyayi tsarin.
3. The uku irin cuta cututtuka su ne duk yawa weaker, kuma su halarta a karon akwai daga baya fiye da na farko ko na biyu da irin. Bugu da kari, mutane da wannan bambance-bambancen raunuka iya tsira ga mafi ƙarfinsa.
4. A hade Cockayne ciwo. A kayyade hanyar wannan yanayin ne ya sa ta cewa a Bugu da kari ga lalacewar gyara enzymes, da yaro ne ba asibitin xeroderma pigmentosum.

asibitin

Ta yaya za a iya gani bayyana symptomatically da Cockayne ciwo? Photos of yara iya kũtsa a cikin bugu sosai impressionable mata, kuma ba duk likitoci su kyauta kalla su. The yaro tsumburai har wada take hakki na rabbai tsakanin jiki da kuma wata gabar jiki. Kodadde fata, tun da hasken rana ne cutarwa ga irin wannan marasa lafiya, shi yake faruwa a wrinkles da folds bayyana farkon hyperpigmentation, scars da sauran alamun tsufa. A lokaci guda su ne isasshe resistant zuwa high yanayin zafi, blisters da konewa kusan gaba daya gwada.

Eyes ne manyan, sunken, akwai wani take hakkin saboda degenerative canje-canje a cikin akan tantanin ido (a cikin nau'i na gishiri da barkono) da kuma na gani jijiya atrophy. A wasu lokuta, zai yiwu detachment na akan tantanin ido a periphery. A eyelids an rufe incompletely. Zai yiwu nystagmus, watau, involuntary ido motsi daga gefe zuwa goyi ko sama zuwa kasa. Bugu da kari, akwai sau da yawa inna na masauki, a lokacin da ƴan ba su canja diamita. Yaro wanda shi ne kurãme ne kuma yana da tafka magudi a cikin tsarin guringuntsi kunnuwa.

Kwakwalwar ɓangare na kwanyar da aka talauci da dabarun, da babba muƙamuƙi ne m. A gidajen abinci suna kafa lankwashewa contractures, da kuma sauran neurological cuta. The yaro ~ uka komai, a ilimi ci gaba.

bincikowa da

Modern magani ba zai iya amsa wannan tambaya: wanda Cockayne ciwo sau da yawa bayyana a matsayin batu maye gurbi da predisposition zuwa gare shi ne kawai zai iya zama, idan iyali ya riga ya sadu da wani irin Pathology. Amma kamar yadda mai mulkin, da iyaye na wani proband ba su san irin wannan misalai.

Don tabbatar da yin awon kuma instrumental bincikowa. A general bincike na fitsari za a iya gani low abun ciki na gina jiki a cikin jini zai ragu a thymic hormone alhakin ci gaban da kuma ci gaban da yaro. X-haskoki na kwanyar zai zama a bayyane calcification a cikin al'amarin na kwakwalwa.

Daga nazarin yin amfani da takamaiman sural jijiya biopsy, a cikin abin da take hakkin da aka gano da myelination. Bayan sakawa a iska mai guba da ultraviolet haƙuri Kwayoyin akwai aka ƙara ji na ƙwarai to ta effects. A binciken da na DNA da RNA dawo da kudi bayan rauni, za a iya samar da wata bayarda hoto da cutar.

Domin perinatal bincikowa da ya dace da yin amfani da PCR don gane m Tsarin na genome.

mugun jin haltta

Akwai takamaiman Pathology na ciki gabobin, wanda za a iya ƙaddara a kan sashe na Cockayne ciwo. A Sanadin wadannan canje-canje suna hade da illa na tsarin jijiya tube ci gaba a utero da kuma halakar da juyayi tsarin bayan haihuwa.

Sani akan cututtuka a autopsy bayyana a disproportionately kananan kwakwalwa, wanda tasoshin atherosclerotic raunuka, kazalika da thickening na tsokoki saboda da impregnation na alli lu'ulu'u da fibrin. Hemisphere bayyana blotchy saboda da canji na launi a kan demyelinated yankunan. A gefe juyayi tsarin, kamar yadda akwai halayyar canje-canje a cikin nau'i na madugu cuta, pathological glia cell sprouting.

magani

Specific jiyya ga wannan rukuni na marasa lafiya ba a ci gaba. Domin kauce wa da ciwon yaro da irin wannan Pathology, ma'aurata suka yi hadarin dalilai ya kamata sha kwayoyin shawara kafin daukar ciki. Bugu da kari, shi ne zai yiwu a farkon watanni uku na gestation yi amniocentesis zama daidai tabbata daga cikin baby ta kiwon lafiya.

Yana isa ya irradiate Kwayoyin samu a cikin ruwar, kashi na ultraviolet radiation. Idan awon detects wuce kima ji na ƙwarai da tsawo na dawo da lokaci, shi ne shaida a cikin ni'imar Cockayne ciwo.