Beckwith-Wiedemann chirwere

Beckwith-Wiedemann syndrome chirwere chekukura chinokonzera kukura kwemuviri mukuru, nhengo hombe, uye zvimwe zviratidzo. Icho chiitiko chekuzvarwa, zvinoreva kuti chiripo pakuzvarwa. Zviratidzo uye zviratidzo zvechirwere zvinosiyana zvakati kubva kumwana kuenda kumwana.

Hucheche inogona kuve yakaoma nguva muvacheche vane mamiriro aya nekuda kwekugona kwe:

• Shuga shoma yeropa
• Rudzi rwehernia runonzi omphalocele (kana uripo)
• Rurimi rwakawedzerwa (macroglossia)
• Yakawedzera mwero wekukura kwemota. Matumbo eWilms uye hepatoblastomas ndiwo anowanzo bundu muvana vane chirwere ichi.

Beckwith-Wiedemann syndrome inokonzerwa nehurema mumageneti echromosome 11. Inenge gumi muzana yematambudziko anogona kupfuudzwa kuburikidza nemhuri.

Zviratidzo nezviratidzo zve Beckwith-Wiedemann syndrome zvinosanganisira:

• Kukura kukuru kwemwana achangozvarwa
• Tsvuku yekuzvarwa mucherechedzo pahuma kana maziso (nevus flammeus)
• Inogadzira munzeve dzemakutu
• Rurimi rukuru (macroglossia)
• Shuga shoma yeropa
• Abdominal madziro kuremara (umbilical hernia kana omphalocele)
• Kuwedzera kwezvimwe nhengo
• Kukura kwerutivi rumwe rwemuviri (hemihyperplasia / hemihypertrophy)
• Kumhanyisa kukura, kwakadai seWilms tumamota uye hepatoblastomas

Anopa hutano anozoongorora muviri kuti aone zviratidzo nezviratidzo zve Beckwith-Wiedemann syndrome. Kazhinji izvi zvinokwana kuita kuongororwa.

Miedzo yechirwere ichi inosanganisira:

• Ropa kuongororwa kweshuga yakaderera muropa
• Chromosomal zvidzidzo zvekusagadzikana mu chromosome 11
• Ultrasound yemudumbu

Vacheche vane shuga yakaderera muropa vanogona kurapwa nemvura dzinopihwa kuburikidza netsinga (intravenous, IV). Vamwe vacheche vangangoda mushonga kana kumwe manejimendi kana shuga shoma yeropa ichienderera.

Kukanganisa mumadziro emudumbu kunogona kuda kugadziriswa. Kana rurimi rwakawedzerwa ruchiita kuti zvive zvakaoma kufema kana kudya, kuvhiya kungangodikanwa. Vana vane kuwanda kune rumwe rutivi rwemuviri vanofanirwa kutariswa kumusana wakakombama (scoliosis). Mwana zvakare anofanirwa kutariswa zvakanyanya kuvandudza mamota. Kumhanyisa kuongorora kunosanganisira kuongororwa kweropa uye mudumbu ultrasound.

Vana vane Beckwith-Wiedemann syndrome vanowanzo rarama hupenyu hwakajairika. Kuenderera mberi nekudzidza kunodikanwa kukudziridza kwenguva refu-yekutevera ruzivo.

Aya matambudziko anogona kuitika:

• Kubudirira kwemamota
• Matambudziko ekudyisa nekuda kwerurimi rwakawedzerwa
• Matambudziko ekufema nekuda kwekuwedzera kwerurimi
• Scoliosis nekuda kwehemihypertrophy

Kana iwe uine mwana ane Beckwith-Wiedemann syndrome uye zviratidzo zvinoshungurudza zvinokura, daidza chiremba wevana ipapo ipapo.

Iko hakuna kuzivikanwa kudzivirira kweBeckwith-Wiedemann syndrome. Genetic counselling inogona kuve yakakosha kumhuri dzinoda kuve nevamwe vana.

• Beckwith-Wiedemann chirwere

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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.

Sperling MA. Hypoglycemia. 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. 111.