Isifo se-Beckwith-Wiedemann

Isifo i-Beckwith-Wiedemann sisifo sokukhula esibangela ubungakanani obukhulu bomzimba, amalungu amakhulu kunye nezinye iimpawu. Yimeko yokuzalwa, oko kuthetha ukuba ikhona ekuzalweni. Iimpawu kunye neempawu zokuphazamiseka ziyahluka ngandlel 'ithile ukusuka emntwaneni kuye emntwaneni.

Ubuntwana kunokuba lixesha elibalulekileyo kwiintsana ezinale meko ngenxa yokuba kunokwenzeka:

• Iswekile esezantsi yegazi
• Uhlobo lwe-hernia ebizwa ngokuba yi-omphalocele (xa ikho)
• Ulwimi olwandisiweyo (macroglossia)
• Inqanaba elonyukayo lokukhula kwethumba. Izilonda ze-Wilms kunye ne-hepatoblastomas zezona zilonda zixhaphakileyo kubantwana abanesi sifo.

Isifo se-Beckwith-Wiedemann sibangelwa sisiphene kwimfuza kwi-chromosome 11. Malunga ne-10% yamatyala anokugqithiswa kwiintsapho.

Iimpawu kunye neempawu ze-Beckwith-Wiedemann syndrome zibandakanya:

• Ubukhulu obukhulu bosana olusandul 'ukuzalwa
• Uphawu olubomvu lokuzalwa ebunzini okanye kwiinkophe (nevus flammeus)
• Ukudala kwindlebe yeendlebe
• Ulwimi olukhulu (macroglossia)
• Iswekile esezantsi yegazi
• Isiphene sedonga lesisu (umbilical hernia okanye i-omphalocele)
• Ukwandiswa kwamanye amalungu
• Ukwanda kwelinye icala lomzimba (hemihyperplasia / hemihypertrophy)
• Ukukhula kwesisu, ezinje ngeWilms tumors kunye nehepatoblastomas

Umboneleli wezempilo uya kwenza uvavanyo lomzimba ukukhangela iimpawu kunye neempawu zesifo se-Beckwith-Wiedemann. Rhoqo oko kwanele ukwenza isifo.

Uvavanyo lokuphazamiseka lubandakanya:

• Uvavanyo lwegazi kwiswekile esezantsi yegazi
• Izifundo zeChromosomal zokungaqhelekanga kwi-chromosome 11
• I-Ultrasound yesisu

Iintsana ezineswekile esezantsi yegazi zinokunyangwa ngeencindi ezinikezelwa ngomthambo (nge-intravenous, IV). Abanye abantwana banokufuna amayeza okanye olunye ulawulo ukuba iswekile esezantsi yegazi iyaqhubeka.

Iziphene eludongeni lwesisu zisenokufuna ukulungiswa. Ukuba ulwimi olwandisiweyo lwenza ukuba kubenzima ukuphefumla okanye ukutya, kunokufuneka kwenziwe utyando. Abantwana abagqithisileyo kwelinye icala lomzimba kufuneka bajongwe umqolo ogobileyo (scoliosis). Umntwana kufuneka abekwe iliso elibukhali kuphuhliso lwamathumba. Ukuhlolwa kwesisu kubandakanya uvavanyo lwegazi kunye ne-ultrasound yesisu.

Abantwana abane-Beckwith-Wiedemann syndrome bahlala bephila ubomi obuqhelekileyo. Ukuqhubeka kokufunda kuyafuneka ukuphuhlisa ulwazi lokulandela ixesha elide.

Ezi ngxaki zinokwenzeka:

• Uphuhliso yamathumba
• Iingxaki zokutya ngenxa yolwimi olwandisiweyo
• Iingxaki zokuphefumla ngenxa yolwandiso lolwimi
• I-Scoliosis ngenxa ye-hemihypertrophy

Ukuba unomntwana onesifo se-Beckwith-Wiedemann kunye neempawu ezothusayo ezikhulayo, tsalela umnxeba ugqirha wabantwana ngoko nangoko.

Akukho sithintelo saziwayo se-Beckwith-Wiedemann syndrome. Ukucebisa ngemfuza kunokuba luncedo kwiintsapho ezingathanda ukuba nabantwana abaninzi.

• Isifo se-Beckwith-Wiedemann

I-Devaskar SU, Garg M. Ukuphazamiseka kwemetabolism ye-carbohydrate kwi-neonate. Ku: UMartin RJ, uFanaroff AA, uWalsh MC, ii-eds. UFanaroff kunye noMartin's Neonatal-Perinatal Medicine. Ngomhla we-10. IPhiladelphia, PA: Elsevier Saunders; 2015: isahluko 95.

UMadan-Khetarpal S, uArnold G.Ukuphazamiseka kwemfuza kunye neemeko zedysmorphic. Ku: Zitelli, BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 1.

Ukutsala MA. Hypoglycemia. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 111.