Beckwith-Wiedemann maʻi

ʻO Beckwith-Wiedemann Syndrome kahi maʻi ulu e kumu i ka nui o ke kino, nā mea nui, a me nā ʻōuli ʻē aʻe. He kūlana hānau hānau ia, ʻo ia hoʻi aia ma ka wā hānau. ʻOkoʻa nā hōʻailona a me nā ʻōuli o ka maʻi mai ke keiki a ke keiki.

Hiki i ke pēpē ke lilo i manawa koʻikoʻi i nā pēpē me kēia ʻano no ka hiki o:

• Koko kōpaʻa haʻahaʻa
• ʻO kekahi ʻano hernia i kapa ʻia he omphalocele (ke loaʻa)
• He elelo hoʻonui ʻia (macroglossia)
• Hoʻonui ʻia ka helu o ka ulu ulu. ʻO nā ʻōpū Wilms a me nā maʻi heboblastomas nā tumors maʻamau i nā keiki me kēia maʻi.

Hoʻokumu ʻia ʻo Beckwith-Wiedemann Syndrome e kahi kīnā ma nā genes ma ka chromosome 11. Ma kahi o 10% o nā hihia i hiki ke hoʻoiho ʻia e nā ʻohana.

ʻO nā hōʻailona a me nā hōʻailona o Beckwith-Wiedemann maʻi pū kekahi:

• Ka nui nui no kahi keiki hānau
• Māka hānau ʻulaʻula ma ka lae a i ʻole nā ​​lihilihi (nevus flammeus)
• Kāʻeʻe i loko o nā lobes pepeiao
• Lelo nui (macroglossia)
• Koko kōpaʻa haʻahaʻa
• Hewa o ka paia ʻōpū (hernia umbilical a i ʻole omphalocele)
• Ka hoʻonui ʻana i kekahi o nā meaola
• ʻO ka ulu ʻana o kekahi ʻaoʻao o ke kino (hemihyperplasia / hemihypertrophy)
• ʻO ka ulu ulu, e like me nā tumo Wilms a me nā hepatoblastomas

E hana ka mea mālama ola i kahi hoʻokolohua kino e nānā i nā hōʻailona a me nā hōʻailona o Beckwith-Wiedemann maʻi maʻi. I ka manawa pinepine ua lawa kēia e hana i kahi hōʻailona.

ʻO nā hoʻāʻo no kēia maʻi ʻo:

• Nā ho'āʻo koko no ka kō kō kō haʻahaʻa
• Nā aʻo Chromosomal no nā mea kūpono ʻole ma chromosome 11
• Ultrasound o ka ʻōpū

Hiki ke mālama ʻia nā pēpē me ke kō kō haʻahaʻa me nā wai i hāʻawi ʻia ma o ke aa (intravenous, IV). Pono paha kekahi mau pēpē i ka lāʻau lapaʻau a i ʻole ka hoʻokele ʻē aʻe inā hoʻomau ke kō kō kō haʻahaʻa.

Pono e hoʻoponopono hou i nā hemahema i ka paia o ka ʻōpū. Inā paʻakikī ka hanu i ka hanu a me ka ʻai ʻana, pono paha ke ʻoki. ʻO nā keiki me ka ulu nui ma kekahi ʻaoʻao o ke kino e pono ke nānā ʻia no kahi iwi kuamoʻo (scoliosis). Pono e nānā pono ʻia ke keiki no ka ulu ʻana o nā tumors. ʻO ka nānā ʻana i ka Tumor nā hōʻike i ke koko a me nā ultrasounds o ka ʻōpū.

ʻO nā keiki me ka Beckwith-Wiedemann maʻi e alakaʻi maʻamau i nā ola maʻamau. Pono e aʻo hou e hoʻomohala i ka ʻike i ka wā lōʻihi.

Hiki ke hana i kēia mau pilikia:

• Hoʻolālā o nā tumors
• Hānai pilikia ma muli o ka hoʻonui ʻia o ke alelo
• Nā pilikia hanu ma muli o ka hoʻonui ʻia o ke alelo
• Scoliosis ma muli o hemihypertrophy

Inā he keiki kāu me Beckwith-Wiedemann Syndrome a hoʻomohala i nā ʻōuli worrisome, e kāhea koke aku i kāu pediatrician.

ʻAʻohe pale e ʻike ʻia no ka maʻi ʻo Beckwith-Wiedemann. He mea waiwai paha ke ʻolelo aʻoaʻo genetic no nā ʻohana e makemake e loaʻa hou he keiki.

• Beckwith-Wiedemann maʻi

ʻO Devaskar SU, Garg M. Nā maʻi o ka metabolism pākaha i ka neonate. I: Martin RJ, Fanaroff AA, Walsh MC, hua. ʻO Fanaroff lāua ʻo Martin's Neonatal-Perinatal Medicine. 10 o ka lā. Piladelapia, PA: Elsevier Saunders; 2015: chap 95.

ʻO Madan-Khetarpal S, ʻo Arnold G. Nā maʻi genetic a me nā kūlana dysmorphic. I: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Physical Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 1.

ʻO Sperling MA. Hypoglycemia. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 111.