Noonan syndrome: incazelo, izimpawu, ukwelashwa

Kunezindlela ezihlukahlukene kwasekuzalweni ezinganeni. Ezinye zazo abhekwa ezivamile ngempela. Kodwa kukhona isifo ezingavamile. nokudlanga yabo siphansi. Nokho, abaningi nemiphumela kuyindaba eqakathekileko. Enye yalezi pathologies kuyinto Noonan syndrome. Manje, ake sicabangele ke kabanzi. Lesi sihloko sichaza ukuthi kungani kubonakala Noonan syndrome. ukugula Photo uyophinde idluliselwe umbhalo.

Uhlolojikelele

Noonan syndrome yisimo zokugula sitholwa njengefa. PTPN11 isakhi sofuzo soguquko lwegciwane singalawuleka ngokugqoka abazali bakhe adluliselwa inzalo. Njengomthetho, amadoda kule ezingenalusizo. Ngakho-ke, isakhi sofuzo idluliselwa ngokusebenzisa umugqa kwabakhulelwe. Ngokuvamile imakwe uhlamvu walesi sifo emkhayeni wabo. Ezimweni ezingavamile non-ngofuzo, kodwa nazo eqoshiwe practice.

Imininingwane zomlando

Ngesinye isikhathi wayekwenza njengoba wenhliziyo, isazi sezifo zezingane Zhaklin Nunan, usebenza emtholampilo wase-University of Iowa, ngaqaphela ukuthi iqembu athile ezingane, eyayihlanganisa kokubili abafana namantombazane, okwadingeka stenosis yamaphaphu, ngokuvamile ebonakala ukukhula ongaphakeme, esilinganayo amehlo kakhulu, intamo leWebhu elise auricles ongaphakeme futhi ptosis. Ukuhlola inhlanganisela zokubonisa isifo senhliziyo nezinye kwezinso zentuthuko iziguli 833, udokotela wabhala isihloko 1962. Ngo umsebenzi akuchaza amacala ayisishiyagalolunye lapho ku isizinda inhliziyo isici uhlobo azalwa naso futhi izici isici ebusweni, esifubeni ukusonteka , futhi ubambezela. Ukugula itholiwe kokubili abantu owesilisa nowesifazane.

Noonan Syndrome: Izimpawu

Kunezindlela eziningana izici ukuthi ukuhlukanisa kusuka kwamanye egunjini lokuhlolwa kwezifo. Lezi zihlanganisa, ikakhulukazi:

• ukukhula okuphansi. Abesifazane - 1.53, ngoba amadoda -. 1.63 m ngesikhathi sokuzalwa njengoba obuphelele umzimba nesisindo ingane ngaphakathi kwemikhawulo evamile. Ubambezela iqala kusukela ngineminyaka engu-eminyakeni 2-3.
• Izinguquko nazo. Iziguli kutholakala ukuthi uphethwe yini Noonan syndrome, baye esilinganayo kabanzi amehlo alimondi ukuma. Ekhoneni kwangaphakathi emphecweni isikhumba likhona. Futhi waphawula ptosis (ijwabu leso ivinjelwe) ngenxa kahle imisipha umsebenzi, noma ngenxa enethiwekhi encane. Cishe izingxenye ezimbili kwezintathu zonke izingane iziyaluyalu kukhona thuthuva futhi sizibona ngokucacile. Lapho ptosis elinganiselwe emkhakheni buka futhi eba squint.
• ukwephulwa isakhiwo emihlathini. Upper ampofu, kukhona arcuate esibhakabhakeni okusezingeni eliphezulu. Bobabili emihlathini ngamazinyo interposition okungalungile.
• kuyanda okuphansi noma ukusonteka kwezindlebe. Ngenxa yalokhu anomaly abayizithulu.
• entanyeni iDemo nobubanzi.
• Isihlangu emise esifubeni anezingoni esilinganayo kabanzi.
• Deformation we bafike endololwaneni (azalwa naso).
• Flatfoot.
• iminwe iDemo.

Kombungu kwezitho zangaphakathi

Noonan sifo ngokuvamile ehambisana nobutha yokuphazamiseka yisimiso senhliziyo nemithambo yegazi. On the zokugula isizinda wembula olugcwele (stenosis) ebhuthini yamaphaphu, futhi isici kule septum interventricular. Indawo yesibili kuhlala kwezinso kohlelo genitourinary. Ngakho, izinso kwembula ukuthi wayenezinkinga ezifana hypoplasia (yokuntuleka izicubu) noma ukungabi khona omunye izinso. Ngokuphathelene nesikhathi sokuthomba ke kuhluka evamile engaphelele ngokuphelele. Girls ngokuvamile baphawula emva ukuqala kokuya esikhathini, kubafana - amasende noma cryptorchidism bengekho nhlobo. Futhi wathola kuphula umthetho we spermatogenesis. Kwezinye izimo, le spermatozoa bengekho nhlobo. Against ngemuva wemisebenzi Noonan syndrome zinenkinga i ukopha anda. Ezinye iziguli kungenzeka futhi ikubonise kwezinso of kwengqondo e abanomoya.

ukuma

Zimbili izinhlobo zokugula:

• ifomu kwamalungu omkhaya. It ahluke lezinceku uhlobo autosomal-evelele. Ngo abathwali asabekayo isakhi sofuzo inzalo avele nge egunjini lokuhlolwa kwezifo.
• Ifomu oqabukelayo. Kulokhu, lo kuguquka livela kusukela icala icala. Kulesi isici lezinceku ayivezi.

izizathu

Isici ezivamile ukuthi kuphakamisa zokugula iyona PTPN11 isakhi sofuzo wezakhi. Lokhu imbangela sitholakale 50% eziguli. Nokho, ngezinye kumaphesenti athile abantu yilesi sifo kuyisici zofuzo alucacile. zokugula Ifa yilesi sifo autosomal ngendlela evelele. Lesi sifo kungenziwa senziwa kuguquka entsha. Kule ke kulandela ukuthi abazali kanye isakhi sofuzo akudingeki esiningi ithuba ukuba babe nengane yesibili.

uphethwe

It is agibele amahhashi ngokuhambisana nobuntu izici zangaphandle (echazwe ngenhla). Futhi e uphethwe wafunda imingcele laboratory. Ikakhulukazi, kukhona ukwehla kwe-testosterone okuhlushwa, XII ekunqandeni isici. Kukhona futhi amathuluzi kanye nocwaningo. Aqokwe X-ray of the sternum, echocardiography, ECG. Ukusebenzisa lezi amasu wembula kwezinso yezitho zangaphakathi. Udokotela angase futhi linqume kokubonisana zofuzo wezokwelapha.

izinyathelo zokwelapha

Mayelana ukuphathwa syndrome kunqunywa zofuzo kuhloswe ngokuyinhloko at ekuqedeni izimpawu. Lapho eyohlinzwa inikezwa cryptorchidism. Phakathi amasende wakhe uyohlala endlini the scrotum. Nge wokwehla lokuhlushwa androgen yokwelapha i-hormone kunconywa. Ephambi kwezinduna ukwehluleka kwezinso, hemodialysis umiswa. Ngalo, ukususwa wenziwa kusukela umzimba nge imikhiqizo umzimba extrarenal igazi nokuhlanzwa.