Lefu la Beckwith-Wiedemann

Beckwith-Wiedemann syndrome ke lefu la kholo le bakang boholo ba 'mele, litho tse kholo le matšoao a mang. Ke boemo ba tlhaho, bo bolelang hore bo teng nakong ea tsoalo. Matšoao a lefu lena a fapana hanyane ho tloha ho ngoana ho ea ho ngoana.

Bosea e ka ba nako e mahlonoko ho masea a nang le boemo bona ka lebaka la monyetla oa ho:

• Tsoekere e tlase maling
• Mofuta oa hernia o bitsoang omphalocele (ha o le teng)
• Leleme le atolositsoeng (macroglossia)
• Sekhahla se eketsehang sa kholo ea hlahala. Lihlahala tsa Wilms le hepatoblastomas ke lihlahala tse atileng haholo ho bana ba nang le lefu lena.

Beckwith-Wiedemann syndrome e bakoa ke ho holofala liphatseng tsa lefutso chromosome 11. Hoo e ka bang 10% ea linyeoe li ka fetisoa ka malapa.

Matšoao a lefu la Beckwith-Wiedemann a kenyelletsa:

• Boholo ba lesea le sa tsoa tsoaloa
• Letšoao le khubelu la tsoalo phatleng kapa linthong (nevus flammeus)
• E theha li-lobes tsa tsebe
• Leleme le leholo (macroglossia)
• Tsoekere e tlase maling
• Phoso ea mpeng ea mpa (umbilical hernia kapa omphalocele)
• Ho holisa litho tse ling
• Ho eketseha ha lehlakore le leng la 'mele (hemihyperplasia / hemihypertrophy)
• Khōlo ea hlahala, joalo ka lihlahala tsa Wilms le hepatoblastomas

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele ho sheba matšoao a Beckwith-Wiedemann syndrome. Hangata hona ho lekane ho etsa hore motho a hlahlojoe.

Liteko tsa lefu lena li kenyelletsa:

• Liteko tsa mali bakeng sa tsoekere e tlase maling
• Lithuto tsa Chromosomal bakeng sa ho se tloaelehe ha chromosome 11
• Ultrasound ea mpa

Masea a nang le tsoekere e tlase maling a ka phekoloa ka maro a tsoang mothapong (intravenous, IV). Masea a mang a ka hloka meriana kapa tsamaiso e 'ngoe haeba tsoekere e tlase maling e ntse e tsoela pele.

Mefokolo leboteng la mpa e ka hloka ho lokisoa. Haeba leleme le atolositsoeng le etsa hore ho be thata ho hema kapa ho ja, ho ka hlokahala opereishene. Bana ba nang le botenya bo feteletseng ka lehlakoreng le leng la 'mele ba lokela ho shebeloa mokokotlo o kobehileng (scoliosis). Ngoana le eena o lokela ho beoa leihlo haufi-ufi bakeng sa nts'etsopele ea lihlahala. Ho hlahloba hlahala ho kenyelletsa liteko tsa mali le maqhubu a mpeng.

Bana ba nang le lefu la Beckwith-Wiedemann hangata ba phela bophelo bo tloaelehileng. Boithuto bo tsoelang pele boa hlokahala ho nts'etsapele tlhaiso-leseling e latelang ea nako e telele.

Mathata ana a ka hlaha:

• Ntshetsopele ya lihlahala
• Mathata a ho fepa ka lebaka la leleme le atolositsoeng
• Mathata a ho hema ka lebaka la leleme le atolositsoeng
• Scoliosis ka lebaka la hemihypertrophy

Haeba u e-na le ngoana ea nang le lefu la Beckwith-Wiedemann 'me matšoao a tšoenyang a hlaha, letsetsa ngaka ea bana hang-hang.

Ha ho na thibelo e tsebahalang ea lefu la Beckwith-Wiedemann. Tlhabollo ea lefutso e ka ba ea bohlokoa ho malapa a ka ratang ho ba le bana ba bangata.

• Lefu la Beckwith-Wiedemann

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Madan-Khetarpal S, Mathata a liphatsa tsa lefutso a Arnold G. le maemo a dysmorphic. Ka: Zitelli, BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Physical Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 1.

Ho khothaletsa MA. Hypoglycemia. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 111.