Chromosomal cututtuka - Pathology, wanda ya dogara a kan maye gurbi

A zamani matakin na ci gaba magani ya tabbatar da cewa predisposition zuwa wasu cututtuka, ko da ya faru na cuta a kowane zamani zai iya zama saboda hereditary dalilai, ko da shan kashi na hereditary abu (chromosomes maye gurbi) iyaye. Don kwanan wata an tabbatar da cewa chromosomal cututtuka iya zama wani dalili na cuta a cikin daban-daban gabobin da kuma jiki tsarin, da kuma mai tsanani daga cuta dogara a kan al'amurra da dama.

Chromosomal cututtuka - "samaniya" Sakamakonsa, ko tasiri cikin yanayi?

A Sanadin wannan irin cututtuka suna cuta da tsarin mutum chromosomes ko canza su lambar. Maye gurbi cewa fararwa mutum chromosomal cuta na iya faruwa a cikin jam sel na iyaye (a cikin wannan harka da canje-canje za a iya gano a duk Kwayoyin na jiki zuriyar) ko a cikin sosai farkon matakai na amfrayo ci gaba. A wannan yanayin, da kayyade nazari canje-canje za a gano kawai a wasu daga cikin sel - mosaicism faruwa. A tsanani daga keta a mutunta mutane da yawa dogara a kan batu a cikinsa, akwai asarar iyayentaka chromosomes, da kuma yadda pronounced wannan canji.

Lahani chromosomes na iya faruwa a jima'i chromosomes da autosomes a, kuma a gaskiya, a lokuta biyu ne yiwu gyara (maye gurbi), kazalika da canji a cikin adadin - a rage ko karuwa a yawan yan dako na hereditary bayanai. Mafiya yawa na chromosomal cututtuka suna dukar asibiti bayyana, kuma akwai bambanci tsakanin cututtuka cewa suna hade da raunuka na autosomes da kuma jima'i chromosome canji. A cikin farko idan na asibiti hoto da cutar bayyanannu a cikin farkon zamanin rayuwa da jariri, yayin da Pathology na jima'i chromosomes iya vividly bayyana ne kawai a lokacin da yaron ta mafarki ba.

Sanadin chromosomal cututtuka

A mafi yawan lokuta, a cikin hanyar chromosomal maye gurbi zama mummunan sakamako na cutarwa muhalli dalilai a kan jam sel da kuma kayyade abu žunsa. Tareda žata dalilai iya zama ionizing radiation, high da kuma low zafin jiki, sinadaran jamiái, ciki har da kwayoyi, kwayar jamiái, da kuma canje-canje a cikin metabolism a kwayoyin iyaye.

Lokacin da karyotype wajibi ne?

An tabbatar da cewa canje-canje a cikin jam sel iya tara da shekaru, wanda shi ne dalilin da ya sa "shekaru" na iyaye a tsarin iyali, ko a lokacin da kallo a lokacin daukar ciki dole aiko domin kwayoyin shawara. Yana bukatar chromosome nazarin (karyotype nazarin nan gaba iyaye) a maras wata-wata abortions da stillbirths, kazalika da zama dole bincike a cikin al'amarin, idan likita ake zargi wani chromosomal munanan a cikin jariri.

A zamani matakin na ci gaba magani ya tabbatar da cewa daya da kuma guda chromosomal cututtuka iya sa a matsayin canji a cikin yawan chromosomes da chromosome rearrangements a wani musamman kungiyar. Irin cututtuka da farko da dangantaka Down ciwo, wanda za a iya kira kamar wata karuwa (trisomy 21 nau'i-nau'i daga chromosomes), da kuma attaching da "karin" 21 chromosome nau'i-nau'i ga sauran. A wannan yanayin, da nazari, a gaban yara a cikin iyali tare da wannan kayyade Pathology taimaka hango ko hasashen da alama na da lafiya baby.

Chromosomal cututtuka - shi ne zai yiwu in warkar?

Kowane likita, wanda ke magance duk wani chromosomal cuta, mai zafi tilasta yarda da cewa m magani na marasa lafiya ne ba zai yiwu. Wannan shi ne dalilin da ya sa da shan kashi na autosomes gudanar symptomatic magani, tsara kawai zuwa kananan har, rama tasowa cuta. A cikin wani hali, marasa lafiya da ake samu mahara lahani, ciki har da shafi tunanin mutum retardation, lahani na zuciya da jijiyoyin jini tsarin, babban canje-canje a cikin metabolism.

Kayar jima'i chromosomes, misali, trisomy na chromosome X, na iya bayyana kanta kawai a 'yan mata kan kai da shekaru balaga. Lokacin da cuta ne rare babban malformations da cuta da jima'i bambantawa faruwa ga wasu har za a iya cika hormonal kwayoyi. Dole ka fahimci cewa wannan far yana da wani sakamako a kan hereditary inji na cell (da chromosomes kansu), amma taimaka wajen jimre da sabawa cikin jiki da hankulansu matsayi na marasa lafiya.