Menene Patau Syndrome ko Trisomy 13

Menene trisomy 13?

La trisomy 13, kuma aka sani da Patau ciwo, wani yanayi ne mai tsanani (wato, yanzu tun daga haihuwa) yanayin da ke tattare da kasancewar kwafi uku na chromosome 13.

Chromosome 13

El chromosome 13 Wani nau'i ne na chromosome na autosomal kuma yana wakiltar 3,5-4% na jimillar DNA, wanda ke cikin dukkanin kwayoyin jikin mutum. Duk da cewa masu bincike sun dade suna nazarinsa, har yanzu ba su iya tantance ainihin adadin kwayoyin halittar da ke cikinsa ba: rabon ya bambanta tsakanin. 300 da 700 kwayoyin halitta.

A cikin mutanen da ke da trisomy 13, ƙarin chromosome 13 na iya zama cikakke (don haka gaba ɗaya yayi kama da na al'ada biyu) ko ɓarna (ma'ana wani sashi ya ɓace). Idan ya cika, ana kiran shi jimlar trisomy 13; idan ya kasance bangaranci, muna magana ne game da trisomy partial 13.

A mafi yawan masu ɗauke da ciwon Patau, duk sel a jiki suna da kwafin chromosome 13 guda uku; duk da haka, yana iya faruwa da wuya cewa trisomy yana iyakance ga wasu adadin sel. A cikin wannan lamari na biyu, masana kimiyyar kwayoyin halitta ma suna magana kwayoyin mosaicism.

Ta yaya Patau Syndrome ke bayyana?

Yawancin lokaci a lokacin daukar ciki, kwai (mace) da maniyyi (namiji) sun ƙunshi 23 chromosomes kowanne. Haɗin kan waɗannan abubuwa guda biyu yana haifar da samuwar kwai da aka haifa (embryo na gaba), wanda ya ƙunshi chromosomes 46 gabaɗaya. Trisomy kamar ciwo na Patau yawanci yana tasowa saboda ko dai kwai ko maniyyi yana da ƙarin chromosome.

El hadi kwai kuma amfrayo na gaba zai sami sel masu dauke da su 47 chromosomes kuma babu 46.

Abubuwan haɗari

La tsufa na uwa abu ne mai yuwuwar haɗarin cutar Patau. Wannan kuma ya shafi sauran nau'ikan trisomy na gama gari, kamar Down syndrome da cutar Edwards.

Alamu da rikitarwa

Hoton bayyanar cututtuka ya dogara da yawa akan tsanani da canjin chromosomal. Yawancin lokaci jaririn da abin ya shafa yana da daban-daban na waje da na ciki anomalies, wanda ya hada da:

• Karamin kai (microcephaly).
• Holoprosencephaly. Wannan shi ne yanayin yanayin cututtukan da ba a raba kwakwalwa zuwa hemispheres guda biyu, kamar yadda ya kamata ya kasance. Wannan yana haifar da matsalolin jijiya (jinkirin tunani) da lahani na fuska daban-daban.
• Espina bifida bude. Ita ce mafi girman nau'i na bifida na kashin baya, wanda kuma ya shafi kashin baya. A cikin mutanen da ke da wannan yanayin, maniyyi da kashin baya suna fitowa (wanda aka sani da hernia) daga gidajensu na kashin baya, suna samar da jakar da ke fitowa a matakin baya. Ko da yake an kiyaye ta da wani nau'in fata, wannan jakar tana fuskantar ta'addanci na waje kuma tana ci gaba da fuskantar haɗari mai tsanani kuma, a wasu lokuta, har ma da cututtuka masu mutuwa.
• Fadin hanci.
• Ƙananan kunnuwa masu siffar da ba a saba ba; kurma da ciwon kunnuwa mai tada hankali.
• Lalacewar ido iri-iri. Masu ɗaukar Trisomy 13 yawanci suna da ƙananan idanu sosai (microphthalmia) da kusanci da juna sosai (hypotelorism). A lokuta masu tsanani, suna da ido ɗaya kawai (anophthalmia) da / ko wahala ocular coloboma. Coloboma na ido shine lalacewar ido wanda zai iya shafar ruwan tabarau, iris, choroid, retina da / ko fatar ido. Wasu marasa lafiya suna da cikakkiyar ƙarancin ƙwayar ido. Babu shakka, a gaban ɗaya ko fiye na waɗannan sharuɗɗan, ikon gani yana shafar.
• Harelip da / ko tsinke baki. Sharadi na farko ya kunshi karyewa a lebe na sama, yayin da yanayi na biyu kuma shi ne karya a cikin baki.
• Aplasia na fata (ko aplasia fata). Kalmar likita ce ta rashin fata a wasu wuraren fatar kai. Masu dauke da ita suna saurin kamuwa da cututtuka da kuma ulcers. Bugu da ƙari, fata yana da aikin kariya daga ƙananan ƙwayoyin cuta (kwayoyin cuta, ƙwayoyin cuta, da dai sauransu).
• Polydactyly (o hyperdactyly) y camptodactyly. Kalma ta farko tana nufin samun yatsu sama da biyar da/ko yatsu. Kalma ta biyu tana nuna rashin lahani na hannaye biyu, wanda ke da alaƙa ta dindindin na haɗin gwiwa na interphalangeal.
• A cikin maza, sarzamari (kwayoyin da ba a kwance ba) da kuma rashin tsari na scrotum da al'aura (micropenis); a cikin mata, bicornuate mahaifa e clitoral hypertrophy.
• Wahalar numfashi da lahanin zuciya. Lalacewar zuciya da rashin daidaituwa sun haɗa da abin da ake kira interatrial da interventricular lahani, patent ductus arteriosus, cututtukan zuciya na valvular (musamman yana shafar bawul na aortic da na huhu), da dextrocardia (zuciya ta koma dama, maimakon dama). hagu).
• Koda tare da cysts. Siffar sa tana da kwatankwacin kodar mutanen da ke da cutar koda ta polycystic.
• Rashin al'ada na hanji.

Bayan wata daya na rayuwa

Idan jaririn ya kai wata guda na rayuwa, zai sami ƙarin cututtuka, ciki har da:

• Wahalar cin abinci yadda ya kamata.
• Maƙarƙashiya
• Gastroesophageal reflux.
• Yawan girma a hankali.
• Scoliosis.
• Halin fushi.
• Hankali ga hasken rana (photophobia).
• Rage sautin tsoka
• Hawan jini
• Sinusitis da cututtuka na urinary fili, idanu da kunnuwa.

Ciwon ciki

Likitoci na iya tantance ciwon Patau ko da kafin a haifi jariri. Gwaje-gwaje don gano cutar a cikin lokacin haihuwa sune: tayin duban dan tayi, amniocentesis (tarin transabdominal na karamin adadin ruwan amniotic, wanda aka yi a makonni 16 ko 18) da CVS (wanda aka yi a makonni 10 ko 12) . Yawancin lokaci ana yin shi tsakanin sati 16 da 18.

Idan saboda dalilai daban-daban ba zai yiwu a aiwatar da abubuwan sarrafawa da aka ambata ba, ganewar asali na trisomy 13 yana faruwa a lokacin haihuwa, ta hanyar madaidaicin gwajin jiki da nazarin chromosomal na samfurin jini.

Tratamiento

Patau ciwo ne a rashin lafiya mai warkewaTun da babu wani magani da zai iya mayar da al'ada abun da ke ciki na chromosome, ba a lokacin haihuwa ko bayan haihuwa.

Duk da haka, idan jaririn ya tsira, za a yi maganin bayyanar cututtuka. Za a magance abin da abin ya shafa.

Hasashen

Tsawon rayuwar mai ciwon Patau yana da iyaka sosai. Wani bincike na Anglo-Saxon ya bayar da rahoton cewa:

• • Matsakaicin adadin rayuwa shine kwanaki 2,5.
  • Kusan kashi 50% na jariran da abin ya shafa suna rayuwa sama da mako guda.
  • 5-10% na batutuwa tare da trisomy 13 suna rayuwa fiye da shekara guda.