Noonan ciwo: description, cututtuka, magani

Akwai da dama daga haihuwa lahani a yara. Wasu daga cikin su suna dauke su quite na kowa. Amma akwai wani m cutar. Su ruwan dare ne low. Duk da haka, mutane da yawa sun quite tsanani sakamakon. Daya daga cikin wadannan pathologies ne Noonan ciwo. Next, bari mu yi la'akari da shi a cikin mafi daki-daki. Wannan labarin ya bayyana yadda kuma me ya sa akwai bayyana Noonan ciwo. Photo rashin lafiya ma za a gabatar a cikin rubutu.

Overview

Noonan ciwo ne a hereditary Pathology. PTPN11 gene mutated ta saka mahaifansa biyu daukar kwayar cutar zuwa zuriya. Kamar yadda mai mulkin, maza a cikin wannan ɓãci. Saboda haka, gene yana daukar kwayar cutar ta hanyar da masu juna biyu line. Yawancin lokaci alama iyali harafin da cutar. Rare ararrakin da ba-hereditary, amma su ma a rubuce a yi.

tarihi bayanai

A lokaci daya aikata a matsayin likitan zuciyar, pediatrician Zhaklin Nunan, aiki a asibitin na Jami'ar Iowa, na lura cewa a wasu rukuni na yara, wanda kunshi duka biyu maza da mata, wanda ya na huhu stenosis, sau da yawa halin low girma, spaced idanu fadi, webbed wuyansa located low auricles da ptosis. Nazarin hade da bayyananen cututtukan zuciya da sauran raya ci gaban munanan a 833 marasa lafiya, likita ya rubuta a cikin wani 1962 labarin. A cikin aikin ta bayyana tara lokuta a wadda a kan bango na da zuciya lahani nakasar iri da kuma halayyar fuska fasali, kirji nakasawa , da kuma stunting. The rashin lafiya aka gano biyu a cikin mutanen da namiji da mace.

Noonan Syndrome: Alamun

Akwai da dama daga halaye da cewa rarrabe daga sauran Pathology. Wadannan sun hada da, musamman:

• Low girma. Mata - 1,53, ga maza -. 1,63 m a lokacin haihuwa kamar yadda jiki tsawon kuma nauyi na yaro ne a cikin al'ada iyaka. Stunting fara daga shekara 2-3 shekaru.
• Canje-canje fuska. Marasa lafiya kamu Noonan ciwo, sun yadu spaced idanu almond siffar. A ciki kusurwa na fata Musulunci ne ba. Kuma lura ptosis (fatar ido tsallake) saboda illa tsoka aiki, ko dai saboda kananan kwasfa. Aƙalla kashi biyu cikin uku na dukan yara da cuta ne disturbances hangen nesa. Lokacin da ptosis iyaka filin ra'ayi da kuma tasowa a squint.
• gini keta jaws. Upper underdeveloped, akwai arcuate high sama. Dukansu jaws da hakora interposition ba daidai ba.
• Low Yunƙurin ko nakasawa daga cikin kunnuwa. A sakamakon wannan anomaly an ji sosai.
• Short da m wuyansa.
• Garkuwa-dimbin yawa kirji tare da yadu spaced nonna.
• Nakasawa da gwiwar hannu (nakasar).
• Flatfoot.
• Short yatsunsu.

Malformations na ciki gabobin

Noonan ciwo ne sau da yawa tare da disturbances a cikin zuciya da jijiyoyin jini tsarin. A kan bango Pathology saukar takaita (stenosis) a cikin huhu akwati, da kuma aibi a cikin interventricular septum. Na biyu wuri ne shagaltar da munanan na genitourinary tsarin. Saboda haka, kodan saukar lahani kamar hypoplasia (rashin nama) ko babu daya koda. Game da mafarki, shi dabam daga al'ada zuwa gaba daya m. Girls sau da yawa lura bayan farko na haila, a boys - golaye ko cryptorchidism ne gaba daya fakowa ba. Har ila yau samu wani take hakkin spermatogenesis. A wasu lokuta, da ma'ana ne gaba daya fakowa ba. Kan bango na ayyukan for Noonan ciwo da wani ƙara zub da jini. Wasu marasa lafiya da kuma iya nuna munanan shafi tunanin mutum raya a cikin m.

siffar

Akwai iri biyu Pathology:

• Iyalinmu form. Ya bambanta hereditary autosomal-rinjaye irin. A dako na mutant gene zuriyata ya bayyana tare da Pathology.
• A harben form. A wannan yanayin, da maye gurbi bayyana daga al'amarin zuwa harka. A wannan hereditary factor ne ba a saukar.

dalilai

Mafi na kowa factor cewa tsokani da Pathology ne PTPN11 gene maye gurbi. Wannan dalili ne kamu a 50% da marasa lafiya. Duk da haka, a wani yawan mutane tare da wannan ciwo ne a kayyade factor ne m. Gādo Pathology auku a wani autosomal rinjaye hanya. A ciwo za a iya jawo da wani sabon maye gurbi. Daga wannan shi ya bi da cewa iyaye da gene ba su da yawa na da damar da wani yaro.

ganewar asali

An saka daidai da halayyar waje siffofin (aka bayyana a sama). Har ila yau a cikin ganewar asali karatu awon sigogi. A musamman, akwai wani karu na testosterone taro, XII clotting factor. Akwai kuma kayan aikin da gudanar da bincike. Nada ta X-ray na sternum, echocardiography, ECG. Amfani da wadannan dabaru saukar munanan na ciki gabobin. Likita na iya ma rubũta shawara na likita itatuwa aure.

warkewa matakan

A dangane da genetically m ciwo magani ne da nufin farko a kawar da cututtuka. Lokacin da wani aiki da ake sa cryptorchidism. A lokacin da ta golaye motsa a cikin Kwalatai (Scrotum). Tare da rage daga cikin taro na androgen hormone far shi bada shawarar. A gaban na koda gazawar, hemodialysis da aka nada. Tare da shi, da kau ne da za'ayi daga jiki via rayuwa kayayyakin extrarenal jini tsarkakewa.