Mene ne wani Wolf-Hirschhorn ciwo? Wolf-Hirschhorn ciwo Mene ne m?

Akwai da yawa cututtuka cewa mutane fuskanci ne musamman rare. Wannan shi ne dalilin da ya sa gare su ba, mutane kadan sani. Wadannan matsaloli sun hada da Wolf-Hirschhorn ciwo. Abin da shi ne, ko shi ne mai hadarin gaske cuta da kuma wani kintace a kan rayuwar wadannan marasa lafiya - duk wannan zai kara da shi.

Takaitacciyar

Da farko, ya kamata a lura da cewa irin wannan kwayoyin cuta, kamar yadda wani Wolf-Hirschhorn ciwo, aka bayyana a matsayin kwanan nan a matsayin shekarar 1965. Shin da shi a lokaci guda a yawan Jamus jinsi. Dalili na wannan matsala ne a shafewa (takamaiman chromosomal rearrangements, a lokacin da wani ɓangare na wani chromosome ne kawai rasa) na gajeren hannu na chromosome 4. Wannan shi ne saboda wasu kwayoyin canje-canje a cikin mutane shi ne ba wani ɓangare na sama 4-chromosome, wadda take kaiwa zuwa ciki da waje canje-canje. Da farko, matsalar da aka sani da 4p-ciwo. Daga baya Pathology fara kira a kan sunayen masana kimiyya suka dauki bangare a ta bude.

wasu statistics

Wolf-Hirschhorn ciwo ne in mun gwada rare. A abin da ya faru da cutar: daya hali na chromosomal canje-canje ta hanyar game da mutum ɗari da dubu yara masu lafiya. Idan muka yi magana game da jima'i, da mafi kusantar 4r- ciwo da aka samu a 'yan mata fiye da a boys. Idan ka lilo a gwargwado, sa'an nan 75 marasa lafiya da 'yan mata lissafin kudi don game da 50 namiji yara da cutar. Ya kamata a lura cewa da bayani ga wannan al'amari, masana kimiyya ba su ba. Duk da haka, wadannan Manuniya ne da muhimmanci sosai ga duniya na kimiyya, da kuma masana sun dade da aka aiki a kan gano da babban Sanadin chromosomal rearrangement. Ya kamata kuma a lura da cewa zuwa ranar, aka bayyana a cikin daki-daki, 130 lokuta da wannan cuta, wanda shi ne isa zuwa ga karatu da matsala.

Game da Sanadin ciwo a yara

Kwatanta irin wannan matsalar kamar yadda Wolf-Hirschhorn ciwo, ta haddasawa ne muhimmanci a yi la'akari da fari. Da farko, ya kamata a lura da cewa share waje haddasawa, kamar: miyagun halaye ko mahaukaci kari na rayuwa daga cikin iyaye, masana kimiyya ba za a iya kira. A wannan yanayin, duk abin da yake mafi rikitarwa.

Da farko, dole ne a ce wannan ciwo ne mai hadarin gaske ga marasa lafiya da suke da matsaloli tare da ƙungiyar autosomes (guda biyu chromosomes, waxanda suke da wannan a cikin mutane, ko da kuwa su jinsi ainihi, da bambanci ga jima'i chromosomes). Kadan zurfi a cikin magani. Bincikensa jayayya da cewa wannan Pathology faruwa a lokacin kashi hasãra ne 4r16 (asarar 4r12-4r15 barbashi tsokani quite daban-daban canje-canje a cikin bayyanar da kayan ciki). Yana da muhimmanci a lura da cewa a cikin wannan harka da babbar rawa da gadar hali. Saboda haka, dako na data rearrangement dole ya uwayensu ko ubanninsu na yara tare da wannan ganewar asali.

Abu na gaba da ya kamata a lura: cikin hanyar da ciwo iya zama 4r- zobe chromosomes (a cikin wannan harka, ba su rarraba longitudinally, kamar yadda ya kamata, da kuma mai gangara). Nan da nan dole ne in ce cewa a cikin wannan labari a cikin matasa marasa lafiya kasaftawa more ƙarin cututtuka da suke ba halayyar ga tsabta deletions 4r-.

Babban asibiti ãyã

Kamar yadda zahiri dubi Wolf-Hirschhorn ciwo? Alamun cewa faruwa tare da wannan matsala, kuma suna da alaqa da wani ganewar asali, ne daban-daban. Duk da haka, a cikin wani dunƙule, sa'an nan, domin wannan Pathology ne halin da jinkiri ba kawai jiki, amma kuma da psychomotor ci gaba da jariri. Wannan shi ne babban asibiti alama na matsalar.

cututtuka

Ya kamata ka shakka gaya abin da cututtuka bi da Wolf-Hirschhorn ciwo. Alal misali, suna iya zaɓar wani fanni. Duk da haka, ya kamata a lura da cewa shi ma ya faru da cewa yaro ta Pathology ne kusan imperceptible, da kuma gagarumin canje-canje da aka lura a cikin external bayyanar. Babban fasali na ciwo sun hada da:

• Uncharacteristic tsarin da kwanyar, ko abin da ake kira "warrior kwalkwali". The yaro za a iya beaked hanci siffar. Kunnuwa ne manya-manyan, ottopyrivayutsya. Yana kuma iya zama hypertelorism, a lokacin da ƙaruwa ga m size na nesa tsakanin idanu. Sami eyeballs kuma iya zama daidai ba inganta.
• Microcephaly, a lokacin da rashin lafiya yaro ta kwanyar ne da yawa karami a size fiye da lafiya. Haka kuma an rage a cikin size da kuma kwakwalwa.
• Convulsions, cewa shi ne maras takamaiman amsa da yaron ya daban-daban na waje samuwar kasashe. A wannan lokaci, da jariri zai iya har ya mutu.
• Palate, harshe ko babba lebe ba zai iya zama overgrown, wani lokacin su kafa crevices.

ciki gabobin

Wani lokaci yana daukan wani Wolf-Hirschhorn ciwo ba tare da lalacewar kayan ciki. Duk da haka, mafi sau da yawa su ma canza saboda ba daidai ba chromosome division. To, menene zai kasance?

1. Mafi sau da yawa ya sha wuya daga zuciya, akwai dukan mũnãnan ayyuka na jiki.
2. Zai yiwu ci gaban Pathology a koda. Sau da yawa cystic dysplasia (a lokacin da samuwar zai lalace koda parenchyma) hypoplasia (underdevelopment ko jiki a matsayin dukan, ko a masana'anta). Da wuya lura agenesis koda, polycystic (a koda nama suna kafa mahara cysts), pelvic dystopia koda da kuma sauran cututtuka a ci gaba na jiki.
3. Sau da yawa shan wahala da kuma gastrointestinal fili. Daga cikin matsalolin da ke zama ruwan dare aplasia na gallbladder (a nakasar rashin daga gare ta), hernia na kananan hanji, da motsi na da cecum.
4. Har ila yau maras kyau giciye-coccygeal yankin inda mazurari za a iya kafa ko irregularly dimbin yawa kogo.

Ya kamata kuma a lura da cewa tare da wannan ciwo yaro an haifi tare da kafofin yada low jiki nauyi. Kuma wannan duk da cewa uwar Bears baby cikakken lokaci, 40 makonni.

shafi tunanin mutum da ci gaban

A wani alama na Wolf-Hirschhorn ciwo? Karyotype, watau wani sa na chromosomes, bai cika ba, maras kyau. A sakamakon haka ne cewa, ban da nakasassu, akwai kuma shafi tunanin mutum retardation. Yana iya zama m, matsakaici ko matsananci digiri. Ya kamata a lura cewa gefe pathologies har yanzu ba kyau gane, masana kimiyya suna har yanzu aiki a cikin wannan shugabanci. Amma akwai shaida cewa zai ci gaba hypoplasia na cerebellum ko tarin rubuce-rubuce callosum, wanda rinjayar da al'ada aiki na kwakwalwa. A daidai wannan lokaci, za mu lura cewa, wani lokacin marasa lafiya da sosai m shafi tunanin mutum retardation, don haka da cewa wadannan yara iya rayuwa tare quite cikakken a cikin al'umma, to socialize.

ganewar asali

Yaya za ka iya sanin ko Wolf-Hirschhorn ciwo? Dalili na shakkun cewa wani abu ba daidai ba ne da likitoci da yawa. Abu na farko da cewa fa, tã hankalin da obstetrician - shi ne haihuwa nauyi. Yara da suka sami wannan ganewar asali daga baya, an haife tare da kafofin yada low jiki nauyi, har zuwa 2 kg. Har ila yau, dalilin shakka al'ada ci gaba da jariri ne bayyanar da wani jariri. Idan muka magana game da ganewar asali, to, shi ne bambanta a layi daya da ganewar asali Patau ciwo (gaban a sel karin 13th chromosome da cewa yana sa irin wannan bayyanar cututtuka). Duk da haka, a cikin wannan harka za a mai da muhimmanci sosai fifiko, kamar yadda, misali, gaban takamaiman alamu a kan fata, da ake kira a magani Dermatoglyphics.

na nazarin

Domin ganewar asali yi cytogenetic nazari, a lokacin da ma'anar da take hakkin chromosomes. A wannan yanayin, da ganewar asali aka tabbatar a game da 60% na lokuta. Subspecies nazari ne da ake kira Hanyar kĩfi, alõkacin da likitoci ƙayyade ba takamaiman chromosomal matsayi a cikin DNA.

Wani nazarin kuma iya sanya kawai don gane take hakki na kayan ciki, da Pathology a su ci gaba. Saboda haka, domin wannan zai iya bukatar wani electrocardiogram da echocardiography, duban dan tayi, X-ray, CT ko MRI.

magani

Bugu da ari, idan akai la'akari da Wolf-Hirschhorn ciwo. Jiyya wannan matsala - wannan shi ne abin bukatar a gaya. Kamar yadda ta bayyana, shi ne wani nakasar kwayoyin cuta, mu jimre wa wanda ba gaba daya cin nasara. Kamar yadda irin wannan magani ba ya wanzu. Duk da haka, likitoci symptomatic far, directing nuna goyon baya da al'ada aiki na lalace gabobin. Har ila yau a cikin wannan batun ya nuna kwayoyin shawara. A lokaci guda ya duba da uwarsa da ubansa a baby haƙuri. Wani lokaci yana iya nuna tiyata ga daidaita kuskure samo asali kayan ciki.

Kintace na marasa lafiya a kan rayuwar

Ta yaya kawo hadari ne mai Wolf-Hirschhorn ciwo? Photo da marasa lafiya tare da wannan ganewar asali da shawara cewa yara tare da wannan matsala sau da yawa ya dubi daban-daban daga talakawa mutane. Yana taka wata babbar rawar a socialization na wani hali. Duk da haka, sau da yawa mutane tare da wannan ganewar asali a sakamakon ne sosai aiki membobin al'umma. Ya kamata a lura da cewa mafi girman hadarin mutuwa yara - a cikin shekarar farko ta rayuwa. Wannan Gaskiya ne, idan akwai lalacewar da zuciya. Don kwanan wata, kasar mu rubuta hali na tsawon rai tare da wannan Pathology. Wannan mutumin ya iya isa shekaru 25 da haihuwa. Duk da haka, irin haka ne musamman rare. Likitoci suka ce cewa wasu daga cikin marasa lafiya (jariri jariran) mutu kafin kiwon irin wannan ganewar asali. Saboda haka cewa mace-mace a cikin shekarar farko na rayuwa, yara za su iya zama mafi girma tare da wannan Pathology fiye da sa ran a yau.