Noonan chirwere

Noonan syndrome chirwere chiripo kubva pakuberekwa (kuberekwa) chinokonzeresa zvikamu zvakawanda zvemuviri kukura zvisina kujairika. Mune zvimwe zviitiko inopfuudzwa kuburikidza nemhuri (nhaka).

Noonan syndrome inosanganisirwa nehurema mumageneti akati wandei. Muzhinji, mamwe mapuroteni anobatanidzwa mukukura uye kukura anozonyanya kushomeka semhedzisiro yeiyi geni shanduko.

Noonan syndrome ndeye autosomal yakanyanya mamiriro. Izvi zvinoreva kuti mubereki mumwe chete ndiye anofanirwa kupfuudza iro risingashande geni kuti mwana ave nechirwere. Nekudaro, zvimwe zviitiko zvinogona kunge zvisina kugarwa nhaka.

Zviratidzo zvinosanganisira:

• Kunonoka kuyaruka
• Kudzika-kutsvedza kana kupamhama-akaisa maziso
• Kunzwa kurasikirwa (zvinosiyana)
• Nzeve-dzakadzika kana nzeve dzakaumbwa zvisina kujairika
• Kuremara kwepfungwa hurema (chete mune ingangoita 25% yematambudziko)
• Kugunzva maziso (ptosis)
• Pfupi chimiro
• Mboro diki
• Machende asina kudzikiswa
• Unusual chest shape (kazhinji chifuva chakanyura chinonzi pectus excavatum)
• Webbed uye mutsipa-unooneka mutsipa

Anopa hutano anoita bvunzo dzepanyama. Izvi zvinogona kuratidza zviratidzo zvematambudziko emoyo mucheche kubva pakuzvarwa. Izvi zvinogona kusanganisira pulmonary stenosis uye atrial septal defect.

Miedzo inoenderana nezviratidzo, asi inogona kusanganisira:

• Platelet kuverenga
• Ropa rinovhara chinhu chinhu bvunzo
• ECG, chifuva x-ray, kana echocardiogram
• Kunzwa bvunzo
• Kukura kwemahormone

Kuongorora genetic kunogona kubatsira kuongorora iyi syndrome.

Iko hakuna chaiyo kurapwa. Wako mupi anozopa kurapwa kurapwa kubvisa kana kugadzirisa zviratidzo. Kukura kwehomoni kwave kuchishandiswa zvinobudirira kurapa kukwirira kupfupi kune vamwe vanhu vane Noonan syndrome.

Iyo Noonan Syndrome Foundation inzvimbo iyo vanhu vanobata neichi chiitiko vanogona kuwana ruzivo uye zviwanikwa.

Zvinetso zvinogona kusanganisira:

• Kubuda ropa zvisina kujairika kana kupwanya
• Kuvaka kwemvura mumatumbu emuviri (lymphedema, cystic hygroma)
• Kukundikana kubudirira muvacheche
• Leukemia nedzimwe gomarara
• Kuzvitarisira pasi
• Kusabereka mune vanhurume kana ese ma testes asina kukosheswa
• Matambudziko nemaitiro emoyo
• Kureba kupfupi
• Zvinetso zvemagariro nekuda kwezviratidzo zvemuviri

Aya mamiriro anogona kuwanikwa panguva yekutanga kwevana bvunzo. A geneticist inowanzodiwa kuti iongorore Noonan syndrome.

Vakaroorana vane nhoroondo yemhuri yeNoonan syndrome vangangoda kufunga nezveyemazano kuraira vasati vaita vana.

• Pectus excavatum

Cooke DW, Divall SA, Radovick S. Zvakajairwa uye zvinokanganisa kukura muvana. Mune: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Chinyorwa cheEndocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020: chitsiko 25.

Madan-Khetarpal S, Arnold G. Matambudziko eGenetic uye mamiriro edysmorphic. Mune: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Panyama Kuongorora. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 1.

Mitchell AL. Kuberekwa kusakanganiswa. Mune: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff naMartin's Neonatal-Perinatal Mushonga. 11th ed. Philadelphia, PA: Elsevier; 2020: chits.