Waardenburg chirwere

Waardenburg syndrome iboka remamiriro akapfuudzwa kuburikidza nemhuri. Iyo syndrome inosanganisira kusanzwa uye ganda rakachenuruka, bvudzi, uye ziso ruvara.

Waardenburg syndrome inowanzo kugara nhaka seyakanyanya autosomal hunhu. Izvi zvinoreva kuti mubereki mumwe chete ndiye anofanirwa kupfuudza jeni risiri iro kuti mwana akanganiswe.

Kune mana makuru marudzi eWaardenburg syndrome. Iwo akanyanya kujairika ndeye Type I uye Type II.

Type III (Klein-Waardenburg syndrome) uye mhando IV (Waardenburg-Shah syndrome) hazviwanzo.

Mhando dzakawanda dzechirwere ichi dzinokonzerwa nehurema mumajini akasiyana. Vazhinji vanhu vane chirwere ichi vane mubereki ane chirwere, asi zviratidzo zviri mubereki zvinogona kunge zvakatosiyana neizvo zviri mumwana.

Zviratidzo zvinogona kusanganisira:

• Cleft lip (zvisingawanzoitika)
• Kuzvimbirwa
• Matsi (yakajairika muchirwere chechipiri II)
• Yakanyanya kuchena maziso ebhuruu kana maziso eziso asingaenderane (heterochromia)
• Reruvara rweganda, bvudzi, uye maziso (kukwana albinism)
• Dambudziko rekugadzirisa zvakakwana majoini
• Zvinogona kuderera kuderera kwehungwaru basa
• Wide-set maziso (mune mhando I)
• Chena chigamba chebvudzi kana kutanga kuchena kwebvudzi

Pasina kujairika mhando dzechirwere ichi dzinogona kukonzera matambudziko nemaoko kana ura.

Miedzo inogona kusanganisira:

• Audiometry
• Bowel yekufambisa nguva
• Colon biopsy
• Kuongorora genetic

Iko hakuna chaiyo kurapwa. Zviratidzo zvicharapwa sekudikanwa. Kudya kwakakosha uye mishonga yekuchengetedza ura huchifamba kunyoreswa kune avo vanhu vane kuzvimbirwa. Kunzwa kunofanira kuongororwa zvakanyanya.

Kana matambudziko ekunzwa agadziriswa, vanhu vazhinji vane chirwere ichi vanofanirwa kurarama hupenyu hwakajairika. Ivo vane akasiyana mafomu eiyo syndrome vanogona kunge vaine zvimwe zvinonetsa.

Zvinetso zvinogona kusanganisira:

• Kuzvimbirwa kwakakomba zvakakwana zvekuti panoda kubviswa ura hukuru
• Kunzwa kurasikirwa
• Kuzvikoshesa matambudziko, kana mamwe matambudziko ane chekuita nechitarisiko
• Zvishoma zvakaderera kushanda kwehungwaru (zvinogoneka, zvisina kujairika)

Genetic counselling inogona kubatsira kana iwe uine nhoroondo yemhuri yeWaardenburg syndrome uye waronga kuita vana. Fonera wako mupi wehutano wekuyedzwa kwekunzwa kana iwe kana mwana wako aine matsi kana kudzikira kwekunzwa.

Klein-Waardenburg chirwere; Waardenburg-Shah chirwere

• Yakafara nasal bhiriji
• Kunzwa kwekunzwa

Cipriano SD, Nzvimbo JJ. Neurocutaneous chirwere. Mune: Callen JP, Jorizzo JL, Zone JJ, Piette WW, Rosenbach MA, Vleugels RA, eds. Dermatological Zviratidzo zveSystemic Chirwere. 5 ed. Philadelphia, PA: Elsevier; 2017: chitsiko 40.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Kukanganisa mune metabolism yemamino acids. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 103.

Milunsky JM. Waardenburg syndrome mhando I. GeneReviews. PMID: 20301703 www.ncbi.nlm.nih.gov/pubmed/20301703. Yakagadziridzwa May 4, 2017. Yakasvika muna Chikunguru 31, 2019.