Isifo se-Beckwith-Wiedemann

I-Beckwith-Wiedemann syndrome yisifo sokukhula esidala usayizi omkhulu womzimba, izitho ezinkulu, nezinye izimpawu. Kuyisimo sokuzalwa, okusho ukuthi sikhona ngesikhathi sokuzalwa. Izimpawu nezimpawu zalesi sifo ziyahlukahluka kuye ngengane.

Izinsana zingaba yisikhathi esibucayi ezinganeni ezinalesi simo ngenxa yokuthi kungenzeka:

• Ushukela wegazi ophansi
• Uhlobo lwe-hernia olubizwa nge-omphalocele (uma likhona)
• Ulimi olukhulisiwe (macroglossia)
• Izinga elikhulile lokukhula kwesimila. Izicubu ze-Wilms kanye ne-hepatoblastomas yizona izicubu ezivame kakhulu ezinganeni ezinalesi sifo.

I-Beckwith-Wiedemann syndrome ibangelwa ukukhubazeka kuzakhi zofuzo ezikwi-chromosome 11. Cishe i-10% lamacala angadluliselwa emindenini.

Izimpawu nezimpawu ze-Beckwith-Wiedemann syndrome zifaka:

• Usayizi omkhulu wosana olusanda kuzalwa
• Uphawu olubomvu lokuzalwa esiphongweni noma kumajwabu amehlo (i-nevus flammeus)
• Idala kuma-lobes endlebe
• Ulimi olukhulu (macroglossia)
• Ushukela wegazi ophansi
• Isici sodonga lwesisu (i-umbilical hernia noma i-omphalocele)
• Ukwandiswa kwezinye izitho
• Ukwanda kolunye uhlangothi lomzimba (hemihyperplasia / hemihypertrophy)
• Ukukhula kwesimila, okufana nezicubu zeWilms kanye ne-hepatoblastomas

Umhlinzeki wezokunakekelwa kwempilo uzokwenza ukuhlolwa komzimba ukuze abheke izimpawu nezimpawu ze-Beckwith-Wiedemann syndrome. Ngokuvamile lokhu kwanele ukwenza ukuxilongwa.

Ukuhlolwa kwalesi sifo kufaka:

• Ukuhlolwa kwegazi ngoshukela ophansi wegazi
• Ucwaningo lweChromosomal lokungajwayelekile ku-chromosome 11
• I-Ultrasound yesisu

Izinsana ezinoshukela wegazi ophansi zingalashwa nguketshezi olunikezwa ngomthambo (ngemithambo, IV). Ezinye izingane zingadinga umuthi noma okunye ukuphathwa uma ushukela ophansi wegazi uqhubeka.

Amaphutha odongeni lwesisu kungadinga ukulungiswa. Uma ulimi olukhulisiwe lukwenza kube nzima ukuphefumula noma ukudla, kungadingeka ukuhlinzwa. Izingane ezinokugcwala ngokweqile ohlangothini olulodwa lomzimba kufanele zibhekwe umgogodla ogobile (scoliosis). Ingane nayo kufanele ibhekwe ngeso lokhozi ukuze ithuthukise izicubu. Ukuhlolwa kwesimila kufaka ukuhlolwa kwegazi kanye nama-ultrasound esiswini.

Izingane ezine-Beckwith-Wiedemann syndrome ngokuvamile ziphila impilo ejwayelekile. Ukuqhubeka nokufunda kuyadingeka ukuthuthukisa imininingwane yokulandelela yesikhathi eside.

Lezi zinkinga zingenzeka:

• Ukuthuthukiswa kwezicubu
• Izinkinga zokondla ngenxa yolimi olukhulisiwe
• Izinkinga zokuphefumula ngenxa yolimi olukhulisiwe
• I-Scoliosis ngenxa ye-hemihypertrophy

Uma unengane ene-Beckwith-Wiedemann syndrome futhi iba nezimpawu ezikhathazayo, shayela udokotela wezingane ngokushesha.

Akukho ukuvimbela okwaziwayo kwe-Beckwith-Wiedemann syndrome. Ukwelulekwa ngofuzo kungaba lusizo emindenini engathanda ukuthola izingane eziningi.

• Isifo se-Beckwith-Wiedemann

I-Devaskar SU, i-Garg M. Ukuphazamiseka kwe-carbohydrate metabolism ku-neonate. Ku: Martin RJ, Fanaroff AA, Walsh MC, ama-eds. UFanaroff kanye neMithi kaMartin's Neonatal-Perinatal Medicine. Umhlaka 10. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 95.

IMadan-Khetarpal S, i-Arnold G.Izinkinga zofuzo nezimo ze-dysmorphic. Ku: Zitelli, BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 1.

I-Sperling MA. I-Hypoglycemia. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 111.