Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome yog qhov kev loj hlob uas ua rau lub cev loj, cov kabmob loj, thiab lwm cov tsos mob. Nws yog ib qho mob tau los ntshav, uas txhais tau tias nws yog thaum yug. Cov phiajcim thiab cov tsos mob ntawm tus mob tsis zoo sib txawv ntawm me nyuam mus rau lwm tus.

Menyuam mos yog lub sijhawm tseem ceeb rau cov menyuam yaus uas muaj tus mob no vim tias tseem muaj:

• Cov piam thaj hauv ntshav tsawg
• Hom qog hu ua omphalocele (thaum nyob tam sim no)
• Tus nplaig loj (macroglossia)
• Kev nce nqi ntawm cov qog ntau dua. Wilms hlav thiab hepatoblastomas yog cov hlav tshaj rau cov menyuam yaus uas muaj tus mob no.

Beckwith-Wiedemann syndrome yog tshwm sim los ntawm kev ua tsis zoo ntawm cov caj ces ntawm chromosome 11. Li ntawm 10% ntawm kis tau tus mob mus rau hauv tsev neeg.

Cov tsos mob thiab tsos mob ntawm Beckwith-Wiedemann syndrome suav nrog:

• Loj loj rau ib tus menyuam mos
• Cim yug liab los ntawm lub hauv pliaj lossis tawv muag (nevus flammeus)
• Tsim nyob rau hauv pob ntseg lobes
• Tus nplaig loj (macroglossia)
• Cov piam thaj hauv ntshav tsawg
• Mob rau ntawm phab ntsa tsis zoo (hnoos qeev lossis omphalocele)
• Kev nthuav dav ntawm qee cov kabmob
• Overgrowth ntawm ib sab ntawm lub cev (hemihyperplasia / hemihypertrophy)
• Tumor kev loj hlob, xws li Wilms hlav thiab hepatoblastomas

Tus kws saib xyuas kev noj qab haus huv yuav tshuaj xyuas lub cev kom saib cov cim thiab tsos mob ntawm Beckwith-Wiedemann syndrome. Feem ntau qhov no txaus los ua kev kuaj mob.

Kev kuaj mob rau qhov puas yog suav nrog:

• Kev kuaj ntshav rau cov ntshav qab zib tsawg
• Kev tshawb nrhiav ntawm chromosome rau kev txawv txav hauv chromosome 11
• Ultrasound ntawm plab

Cov menyuam mos uas muaj ntshav qab zib tsawg yuav raug kho nrog kua dej los ntawm txoj hlab ntshav ntshav (tso ntshav raws ntshav, IV). Qee tus menyuam mos yuav xav noj tshuaj lossis lwm yam kev tswj hwm yog tias muaj ntshav qab zib tsis txaus txuas ntxiv.

Qhov tsis zoo hauv lub plab phab ntsa tej zaum yuav tsum tau kho. Yog tias tus nplaig loj ua rau nws ua pa nyuaj lossis tsis noj mov, yuav tsum muaj kev phais mob. Cov menyuam yaus uas loj dhau ntawm ib sab ntawm lub cev yuav tsum tau saib xyuas tus txha caj qaum (scoliosis). Cov menyuam tseem yuav tsum tau saib xyuas ze ntawm kev txhim kho cov qog. Kev kuaj mob nqaij hlav suav nrog kuaj ntshav thiab kuaj plab.

Cov menyuam yaus uas muaj tus mob Beckwith-Wiedemann syndrome feem ntau ua rau lub neej zoo li qub. Kev kawm ntxiv yog xav tau los tsim cov ntaub ntawv taug qab mus ntev.

Cov teeb meem no tuaj yeem tshwm sim:

• Kev loj hlob ntawm cov qog
• Noj teeb meem vim qhov muaj tus nplaig
• Cov teeb meem ua pa rau vim muaj tus nplaig
• Tus mob Scoliosis vim yog hemihypertrophy

Yog tias koj muaj menyuam yaus nrog Beckwith-Wiedemann syndrome thiab kev mob tshwm sim uas txhawj xeeb, hu rau koj tus kws kho mob tam sim.

Tsis muaj ib qho kev paub tiv thaiv tus mob Beckwith-Wiedemann syndrome. Kev qhuab ntuas caj ces yog qhov muaj txiaj ntsig rau cov tsev neeg uas xav tau me nyuam ntxiv.

• Beckwith-Wiedemann syndrome

Devaskar SU, Garg M. Kev cuam tshuam ntawm cov metabolism carbohydrate hauv cov neonate. Hauv: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff thiab Martin's Neonatal-Perinatal TshuajCov. 10 tus ed. Philadelphia, PA: Elsevier Saunders; Xyoo 2015: chap 95.

S Madan-Khetarpal S, Arnold G. Kev qhia tshuaj rau caj ces tsis zoo thiab lub cev mob. Hauv: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli thiab Davis 'Atlas Kev Kuaj Mob Rau Menyuam yausCov. 7 tus ed. Philadelphia, PA: Elsevier; 2018: chap 1.

Sperling MA. Kev ntshav siab. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 111.