Noonan syndrome ine akawanda malenzi

Noonan syndrome ine akawanda malenji (NSML) chirwere chisingawanzo kuwanikwa nhaka. Vanhu vane chirwere ichi vane matambudziko neganda, musoro uye kumeso, nzeve yemukati, uye nemoyo. Nhengo dzepabonde dzinogonawo kukanganiswa.

Noonan syndrome yaimbozivikanwa seLEOPARD syndrome.

NSLM inogarwa senhengo huru ye autosomal. Izvi zvinoreva kuti munhu anongoda geni risina kujairika kubva kune mumwe mubereki kuti agare nhaka chirwere.

Iri raimbove zita re NSML ye LEOPARD inomiririra matambudziko akasiyana (zviratidzo nezviratidzo) zvechirwere ichi:

• Lentigines - hombe nhamba yebrown kana nhema nhema-yakaita seganda mamaki ayo anonyanya kukanganisa mutsipa nechepamusoro chifuva asi anogona kuoneka muviri wese
• Electrocardiograph kuitisa zvisina kufanira - matambudziko nemagetsi uye kupomba mabasa emoyo
• Ocular hypertelorism - maziso akapatsanurwa akaparadzana
• Pulmonary vharafu stenosis- kudzikira kwepulmonary moyo vharuvhu, zvichikonzera kushomeka kweropa kuyerera mumapapu uye zvichikonzera kupfupika kwemweya
• Akusagadzikana kwenhengo dzesikarudzi - senge machende asina kukodzera
• Retardation yekukura (kunonoka kukura) - kusanganisira mapfupa ekukura matambudziko echipfuva uye musana
• Deafness - kurasikirwa kwekunzwa kunogona kusiyana pakati penyoro uye zvakanyanya

NSML yakafanana neNoonan syndrome. Nekudaro, chiratidzo chikuru chinotaurira zvakasiyana mamiriro acho maviri ndechekuti vanhu vane NSML vane malenji.

Anopa hutano anoita bvunzo dzepanyama uye anoteerera moyo ne stethoscope.

Miedzo inogona kuitwa inosanganisira:

• ECG uye echocardiogram kutarisa moyo
• Kunzwa bvunzo
• CT scan yehuropi
• Dehenya x-ray
• EEG kutarisa mashandiro ehuropi
• Kuongororwa kweropa kutarisa mamwe mahormone
• Kubvisa hushoma hweganda kuongororwa (ganda biopsy)

Zviratidzo zvinorapwa sezvakakodzera. Rubatsiro rwekunzwa runogona kudikanwa. Kurapwa kweHormone kunogona kudikanwa panguva inotarisirwa yekuyaruka kukonzera shanduko yakajairika kuti iitike.

Laser, cryosurgery (kutonhora), kana machenesa mafuta anogona kubatsira kudzikisira mamwe emavara akasviba paganda.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve LEOPARD syndrome:

• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/leopard-syndrome
• NIH Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines

Zvinetso zvinosiyana uye zvinosanganisira:

• Matsi
• Kunonoka kuyaruka
• Zvinetso zvemwoyo
• Kushaya mbereko

Fonera mupiki wako kana paine zviratidzo zvechirwere ichi.

Sheedza musangano pamwe nemupi wako kana uine nhoroondo yemhuri yechirwere ichi uye waronga kuita vana.

Genetic counselling inokurudzirwa kune vanhu vane nhoroondo yemhuri ye NSLM vanoda kuita vana.

Akawanda lentigines syndrome; LEOPARD chirwere; NSML

James WD, Elston DM, Bata JR, Rosenbach MA, Neuhaus IM. Melanocytic nevi uye neoplasms. Muna: James WD, Elston DM, Bata JR, Rosenbach MA, Neuhaus IM, eds. Andrews ’Zvirwere zveGanda. 13 ed. Philadelphia, PA: Elsevier; 2020: chits.

Paller AS, Mancini AJ. Kushungurudzika kwemavara. Mune: Paller AS, Mancini AJ, eds. Hurwitz Clinical Pediatric Dermatology. 5 ed. Philadelphia, PA: Elsevier; 2016: chits. 11.