Yawancin cututtuka da za'a iya gano su a lokacin ci gaban intrauterine ko nan da nan bayan haihuwa. Sashin ciwo, wanda aka fara bayanin da Harry Klinefelter da Fuller Albright, shine banda. Wannan cuta sau da yawa yana faruwa a kusan shekarun da suka wuce.
Klinefelter ta ciwo - mece ce?
Jima'i na yaron yana ƙaddara ta haɗuwa da jima'i na chromosomes. A cikin kwayoyin su ne kawai daga jinsin daya - X, mace. Spermatozoa na iya daukar nau'in chromosomes guda biyu, da kuma maza - Y. Idan aka hadu da kwan kwai tare da gamete X, za mu sami saitin XX, kuma za a haifa yarinya. Lokacin da spermatozoon tare da namijin namiji ya zama mafi sauri, an kafa XY kafa, kuma iyalin suna buƙatar yaron.
A wasu lokuta, ana kwashe X ko Y yuwuwar (har zuwa sau 3) kuma ana yin jigilar su zuwa ga ma'aurata. Mafi yawan bambancin juna na hadewa ita ce XXY - Klinefelter ciwo tare da irin wannan tsari a samari a cikin samari sau da yawa fiye da wasu nau'in. Matsayin da aka yi la'akari yana da muhimmanci a cikin yara maza guda, 'yan mata sun nuna rashin lafiya ba su da lafiya.
Karyotype, halayyar cutar ta Klinefelter
Kowane mutum yana da tsarin mutum guda na chromosomes, wanda ya kunshi nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau'i nau An kira shi karyotype. Na biyu na biyu (23) ke da alhakin ayyukan haifuwa da halaye na jima'i. Ga mai haƙuri da ciwo na Klinefelter, karyotype yana da halayyar tare da wadannan shafuka:
- XXY;
- XYY;
- XXXY;
- XYYY;
- XXYY;
- XXXXY;
- XXXYY.
Kwayar cuta da kuma tsananin bayyanar cututtuka sun dogara ne akan yawan abubuwa masu mahimmanci a cikin 23. Klinefelter ta ciwo tare da karyotypes, ciki har da 49 chromosomes, an dauke shi mafi tsananin nau'i na maye gurbi. Duk da haka akwai nau'in kwayoyin halitta, yayin da wasu kwayoyin suna da lambar kwayoyin halitta (46, XY), kuma kawai kaɗan daga cikinsu an lalace (47, XXY). A irin wannan yanayi, ilimin likita yana tare da alamun rashin ƙarfi kuma ya samu sauki fiye da sauran nau'in cutar.
Yanayin karuwar cutar Klinefelter
Maganar da aka bayyana ba abu ne wanda ba a sani ba, an gano shi a cikin maza na 0.2% na lokuta. Klinefelter ciwo yana faruwa a cikin ɗayan yara daga yara 500 masu lafiya. Bisa ga ganowar marigayi na cututtuka, wannan cutar ba wai kawai maye gurbin kwayoyin halittu ba, amma har ma daya daga cikin mummunan cututtukan endocrine a cikin maza.
Klinefelter ta ciwo - asali na
Bai riga ya kafa ba, dalilin da yasa wasu yara suna da karin ƙwayar cuta a cikin jima'i. Akwai hanyoyi kawai, wanda zai iya haifar da ciwo na Klinefelter - abubuwan da ke haifar da tsokanar mutum ne:
- maganin cututtuka;
- da wuri ko kuma marigayi ;
- dangantaka tsakanin dan uwan da uwa;
- ilimin halayyar ilimin halitta.
Klinefelter ta ciwo ba a gada ba. Kasancewar daya ko fiye da chromosomes a cikin jima'i a cikin mafi yawan lokuta yakan haifar da rashin haihuwa a cikin balaga. Mai haƙuri tare da wannan yanayin ba zai iya samun magada tare da maye gurbin kwayoyin halitta ba. Hakanan ƙwayar cuta zai iya samun iyaye biyu da kuma asalin uwa, amma a cikin mata an samo shi sau da yawa (67% na lokuta).
Klinefelter ta ciwo - bayyanar cututtuka
Wannan cututtuka ba ya bayyana kanta a lokacin cigaban intrauterine da kuma lokacin da ya fara. Kwayar cutar Klinefelter a cikin jarirai ba za'a iya gani ba, jaririn yana da siffar jiki na jiki (tsawo, nauyin nauyi, halayen kai) kuma ya haifar da genitalia daidai. Na farko alamun bayyanar cututtuka ana kiyaye su daga shekaru 5 zuwa 8, amma suna da wuyar ganewa da haɗuwa da maye gurbi:
- mai saukin kamuwa da cututtuka da kwayoyin cuta;
- kadan lag a cikin motar da ci gaban magana;
- dogon kafafu (idan aka kwatanta da akwati);
- babban kugu;
- sauyewa da saurin yanayi;
- gajiya;
- Harkokin rashin tausayi da rashin tunani;
- haɓaka zuwa halayyar zamantakewa.
Yayin da kuka girma, ƙwayar cutar ta Klinefelter ta ci gaba - alamun sun kara fadada a lokacin da suka fara balaga:
- raƙuman kafadu a cikin layi tare da tsummoki mai tsayi da kuma tsokoki.
- kiba;
- rashin isasshen gashi a fuskar da jiki;
- girma girma a kwatanta tare da takwarorina;
- ƙaddamar da glandon mammary (gynecomastia);
- low libido ;
- Girma mai girma na gashi mai launi;
- ƙananan ƙwararruci da azzakari (wani lokaci).
Ƙarin abubuwa masu banƙyama a cikin karyotype, yawancin ciwo na Klinefelter. A cikin yara maza da dikali biyu na chromosomes a cikin 23 suna akwai ƙarin alamun bayyanar:
- osteoporosis;
- lalatawar kirji;
- acrocyanosis;
- bradycardia;
- ciwon zuciya maras kyau ;
- kuskure ba daidai ba;
- astigmatism;
- ptosis na eyelids;
- strabismus ;
- nystagmus;
- karfi da ƙafafun ƙafa da dabino;
- ragawar tunani;
- yanayin manic-depressive;
- low IQ;
- lalatawa na kwayoyin;
- m hali;
- wani shinge mai tsayi da ɗakin hannu tare da tsalle-tsalle;
- babban baki;
- nesa da idanu;
- gaban m neoplasms;
- ciwon kai da kuma hare-hare na hauhawar jini;
- kwakwalwa ;
- cholelithiasis;
- ciwon sukari mellitus;
- kariya;
- rashin ƙarfi;
- rashin haihuwa;
- varicose veins;
- haɓaka ga jaraba, maye gurbin, liwadi.
Klinefelter ta ciwo - hanyoyin bincike
Nazarin ka'ida na 2-mataki na taimakawa wajen gane irin abubuwan da ke da la'akari da yanayin da ake ciki a lokacin daukar ciki. Duk hanyoyi guda biyu suna da muhimmanci idan anyi zaton cewa ciwo na Klinefelter yana da damuwa - ganewar asali ya kamata ya haɗa da hanzari da kuma hanyoyin da ba a kawo su ba. Sau da yawa, wannan cutar ta kasance ba a gane shi ba tun kafin haihuwa, saboda haka an samo shi tun yana tsufa ko kuma girma.
Klinefelter ta ciwo - ganewar ganewa
Mataki na farko na binciken ya shafi bincike game da jinin jini na mahaifiyar nan gaba, wanda yake a cikin mako 11-13 na gestation. Idan nau'in abu mai banƙyama na gonadotropin chorionic da furotin plasma A yana cikin rayayyun halittu, mace tana cikin ƙungiyar mata masu juna biyu da hadarin samun ciwo mara lafiya. A lokuta na gaba, kwayoyin halitta ko ruwa suna nazari (hanyoyin bincike na ruɗuwa):
- amniocentesis ;
- biopsy;
- cordocentesis.
Irin wannan fasaha ya yarda, tare da daidaito na 99.8%, don ƙin ko tabbatar da ciwo na Klinefelter - siffar mosaic da ke gudana a asirce, an tsara shi ta hanyar da aka tsara. Harkokin bincike mai zurfi na dogara ne akan fassarar fassarar karyotype na sel daga samfurori na samfurori masu samfurori, don haka suna da abin dogara kuma abin dogara ne sosai.
Klinefelter ta ciwo - gwaje-gwajen
Ana gano fasalin ilimin lissafi ta wurin alƙawari mai ƙwararren kwayoyin halitta, endocrinologist ko therologist. Klinefelter ta cutar taimaka gano wadannan dabaru:
- A smear daga mucous membrane na bakin;
- gwajin jini (biochemical, hormonal);
- Duban dan tayi na scrotum;
- biopsy testicular;
- nazarin zane akan yatsunsu;
- karyotyping.
Yaya za mu bi da ciwo na Klinefelter?
Kashe gaba daya anomaly wanda aka gabatar ba zai yiwu ba, sabili da haka farfadowa na nufin rage abubuwan bayyanarsa. Mutane dole su dakatar da ciwo na Klinefelter - magani yana buƙatar yin amfani da jima'i na jima'i na maza, tun daga farkon shekaru 11-12. Lissafin cikin gida ko injections na testosterone na inganta daidaituwa akan ci gaban tsarin haihuwa da kuma aiki.
Ƙarin hanyoyin da za a bi da cututtuka na Klinefelter suna buƙata don rage matsalolin matsalolin da ke haifar da cutar da aka bayyana. Wadannan sun haɗa da:
- hardening;
- rigakafin kamuwa da cuta;
- ilimi na jiki;
- shawara mai ilimin hanyoyin kwantar da hankali da kuma maganganun maganganu;
- sabuntawa na nauyin;
- mastectomy (idan ya cancanta);
- biyan kuɗi ga abincin abincin daidai.
Klinefelter ta ciwo - prognosis
Wannan cututtuka ba kisa bane, tare da dacewa da daidaitaccen farfadowa, hadarin rikitarwa abu ne kaɗan. Kyakkyawan kulawa yana inganta mahimmanci idan an gano cutar ciwon Klinefelter - yanayin rai na maza da wannan anomaly chromosomal daidai yake da mutane masu lafiya. Tare da amfani da ƙarin hanyoyin hanyoyin farfadowa, marasa lafiya suna daidaitawa a cikin al'umma kuma suna iya aiki sosai. Yara da cutar ta Klinefelter na iya bunkasa irin wannan ga abokan hulda mai kyau, babban abu shine fara amfani da testosterone a lokaci.
Ayyukan sabbin nasarorin da suka shafi aikin haihuwa suna taimakawa wajen magance matsala ta rashin haihuwa. Hanyar inganci mai amfani da in vitro ta hanyar yin amfani da hanyar ICSI (ingancin ƙwaƙwalwar jini) an riga an gwada marasa lafiya tare da alamun da aka bayyana. Sakamakon gwajin yana da tabbas - an haifi 'ya'ya masu lafiya.
Klinefelter ta ciwo - rigakafin
Saboda rashin cikakken bayani game da dalilai na cigaba da maye gurbin kwayoyin halitta, babu matakan da za su iya hana shi. Har ila yau, ba a iya hana Harry Klinefelter da ciwo ba a mataki na shirin yin ciki. Hanyar da ake bukata shine matakan ganewa. Idan yaron ya kamu da wannan cuta, yana da muhimmanci a hana rikitarwa. Hanyar da za a iya magance ƙwayar cutar Klinefelter shine hormones, wanda dole ne ka yi amfani da kullum.