Tay-Sachs cuta. A rare hereditary cuta

Tay-Sachs cuta - wata cuta da cewa an gaji, shi ne halin sosai m ci gaba da tsakiya m tsarin raunuka, kuma da yaron ta kwakwalwa.

Cutar da aka fara bayyana ta Birtaniya ophthalmologist Warren Tay da American neurologist Bernard Sachs a cikin XIX karni. Wadannan fice masana kimiyya sun sanya wani invaluable taimako ga nazarin wannan cuta. Tay-Sachs cuta - shi ne mai rare cuta. Predisposed to shi wasu kabilun. Sau da yawa da wannan cuta da azãba mai yawan Quebec da Louisiana Faransa a Canada, kazalika da Yahudawan da suke a Gabashin Turai. A general, a cikin duniya da abin da ya faru na cuta 1: 250,000.

A Sanadin cutar

Tay-Sachs cuta ya auku a cikin mutane suke gãdon mutant gene daga iyaye biyu. A cikin akwati inda wani m na gene ne kawai daya daga cikin iyaye, da yaro zai iya ba samun lafiya. Amma, bi da bi, ya zama m da cutar a 50% na lokuta.

A gaban modified gene na jikin mutum ta dakatar da samar da wata takamaiman enzyme - hexosaminidase A, wanda shi ne alhakin tsagawa na halitta hadaddun lipids a cikin sel (gangliosides). Samu wadannan abubuwa daga jiki ba zai yiwu. Su jari take kaiwa zuwa tarewa na kwakwalwa da kuma jijiya cell lalacewa. Wannan sa Tay-Sachs cuta. Photos of lokuta za a iya gani a cikin wannan labarin.

bincikowa da

Kamar sauran hereditary cuta da jariri, wannan cutar za a iya bincikar lafiya a wani wuri mataki. Idan iyaye zargin cewa su baby yana fama da Tay-Sachs ciwo, to, kana bukatar agajin gaggawa shawarci likitan ido. Bayan duk, na farko alamar wannan mummunan cuta ne ceri-ja tabo, wanda aka lura a cikin binciken na da fundus na yaro. Spot taso saboda gangliosides jari a retinal Kwayoyin.

Sa'an nan da za'ayi karatu kamar nunawa gwajin (wani m jini gwajin) da kuma microscopic bincike na neurons. Nunawa gwajin ya nuna ko samar da sunadarai auku Hexosaminidase irin A. Analysis na neurons bayyana, idan wani daga cikinsu gangliosides.

Idan iyaye sani a gaba da suke da dako da cutarwa kwayoyin halitta, kuma dole ne a wuce a nunawa gwajin, wanda aka gudanar a 12 makonni na gestation. A cikin binciken, jini da aka dauka daga mahaifa. A gwajin sakamakon zai zama share ko yaro ya gaji genes mutated daga iyayensu. Wannan gwajin da aka gudanar a ma matasa da kuma manya da bayyanar kama da cututtuka da kuma wani mummunan gadar hali.

A ci gaba da cuta

Jariri wahala daga Tay-Sachs ciwo, zahiri da ya kama dukan yara, da kuma alama quite lafiya. A saba abu, lokacin da irin wannan rare cututtuka ne ba nan da nan, kuma a cikin akwati na da cuta a cikin tambaya kawai na tsawon watanni shida. Har zuwa 6 watanni, da yaro behaves a cikin wannan hanya kamar yadda ya takwarorina. Wannan ne da riko da kansa a hannunsa abubuwa, wallafa wasu sauti da iya fara ja jiki.

Tun gangliosides a Kwayoyin suna ba farfashe, suka tara Yã isa zama yawan tabbatar da cewa baby rasa samu basira. The yaro bai amsa ga mutanen da ke kewaye da su, ya ganinsu directed a guda batu, akwai apathy. Bayan wani lokaci tasowa makanta. Daga baya, da yaro ta fuskar zama kamar yar tsana. Yawanci, yara da m cututtuka da cewa suna hade da shafi tunanin mutum retardation, kada dade ba. A cikin hali na Tay-Sachs baby zama guragu da wuya tsira bayan shekaru 5.

Alamun a jarirai da cutar:

• A 3-6 watanni da yaro ya fara zuwa rasa lamba tare da waje duniya. Wannan yana bayyana a gaskiyar cewa bai gane shi ba Ƙaunatattunka, iya amsa kawai zuwa m noises, ba zai iya mayar da hankali a kan batun hangen nesa, ido fizge, hangen nesa tabarbarewa.Idan daga baya.
• A cikin watanni 10 da jariri aiki rage-rage. Yana zama da wuya ga matsawa (zauna, ja jiki, mirgine kan). Vision kuma ji blunted tasowa apathy. Iya kara da shugaban size (macrocephaly).
• Bayan watanni 12, da cutar ne samun lokacinta. Ya zama na fili da shafi tunanin mutum retardation na yaro, ya sauri ya fara rasa ji, hangen nesa, tsoka aiki worsens, matsaloli a numfashi, seizures bayyana.
• A watanni 18, da yaro da aka gaba daya hana ji da gani, akwai convulsions, spastic ƙungiyoyi, kowa yana da inna. A ƴan ba su amsa zuwa ga haske, kuma fadada. Bugu da ari decerebrate rigidity tasowa saboda kwakwalwa lalacewa.
• Bayan 24 months, jariri shan wahala bronchopneumonia kuma sau da yawa mutu kafin su isa 5 shekaru. Idan yaro ne iya rayuwa ba, ya tasowa daidaito cuta ragi a cikin daban-daban kungiyoyin na tsokoki (ataxia) da kuma inda hakan motor wanda progresses tsakanin 2 da 8 da shekaru.

Tay-Sachs cutar da sauran siffofin gabatar.

Na yara gazawar hexosaminidase A

Wannan nau'i na cutar fara bayyana kanta a yara shekaru 2 zuwa 5 shekaru. Ci gaba da cutar da sannu sannu fiye da a jarirai. Saboda haka, bayyanar cututtuka da wannan hereditary cuta ba nan da nan bayyane. Akwai yanayi swings, clumsiness na motsi. Shi ke ba musamman kusantar da hankalin manya.

Next, da wadannan na faruwa:

• akwai tsoka rauni.
• kananan seizures.
• slurred magana da wani take hakkin da tunani matakai.

Da cutar a wannan shekara ma take kaiwa zuwa tawaya. A yaron ya mutu kafin 15-16 shekaru.

Amovroticheskaya yaro idiocy

Haka kuma cutar ta fara don ci gaba a 6-14 shekaru. Yana yana mai rauni kwarara, amma yana yiwuwa samun lafiya makanta, gigin-tsufa, tsoka rauni, zai yiwu inna daga cikin wata gabar jiki. Bayan zaune tare da wannan cuta, ko da 'yan shekaru, da yara mutu a Jihar hauka.

A kullum irin hexosaminidase rashi

Yawancin lokaci bayyana a cikin mutanen da suka rayu shekaru 30. Da cutar a wannan tsari ne mai jinkirin Hakika, mafi yawanci shi ne m. Akwai yanayi swings, slurred magana, clumsiness, rage m, halayya munanan, tsoka rauni, seizures. Tay-Sachs ciwo a kullum fom da aka bude gwada da kwanan nan, da kuma hasashen nan gaba ba ze yiwu. Amma a fili yake cewa cutar zai lalle kai ga tawaya.

Jiyya na Tay-Sachs cuta

Wannan cuta, kazalika da dukan iko da idiocy ba tukuna da jiyya. Marasa lafiya a kan tabbatarwa far da kuma reno da kulawa. Yawanci, da kwayoyi da aka wajabta a kan cramps, ba su shafi. Tun da jariran ba hadiya reflex kuma sau da yawa suna ciyar da su ta hanyar wani bututu. Kebantattun na wani rashin lafiya yaro ne sosai rauni, don haka dole ka yi wa co-morbidities. Yawancin lokaci, yara ana kashe saboda wani kwayar cutar.

Rigakafin wannan cuta ne wani binciken da na ma'aurata, da nufin gano maye gurbi a cikin kwayoyin halittu da cewa characterizes Tay-Sachs cuta. Idan wani, ya kamata a bada shawarar ba da ƙoƙarin da yara.

Idan yaro ne m

Lokacin gida kula wajibi ne don koyi yadda za a yi postural magudanun ruwa da kuma nasogastric tsammãni. Ciyar da jariri ta tube da kuma tabbatar da cewa, da fata ba bayyana bedsores.

Idan kana da wasu yara masu lafiya, to, kana bukatar ya bincika su ga gaban da mutant gene.