ʻO ka maʻi ʻo Bassen-Kornzweig

ʻO ka maʻi ʻo Bassen-Kornzweig kahi maʻi maʻamau i hala i nā ʻohana. ʻAʻole hiki i ke kanaka ke komo piha i nā momona papaʻai ma o nā ʻōpū.

Hoʻokumu ʻia ʻo Bassen-Kornzweig syndrome e kahi kīnā i loko o kahi ʻāpana e haʻi i ke kino e hana i nā lipoproteins (nā mole o ka momona i hui pū ʻia me ka protein. He paʻakikī ka hemahema i ke kino e hoʻomoʻa pono i ka momona a me nā wikamina pono.

ʻO nā hōʻailona me:

• ʻO nā pilikia kaulike a me ka hoʻohui ʻana
• Ka piko o ka iwi kuamoʻo
• Hoemi i ka hihiʻo e ʻoi aku ana ka maikaʻi ma mua o ka manawa
• Hoʻolālā hoʻomohala
• ʻO ka holomua ʻole (ulu) i ka wā kamaliʻi
• Nāwaliwali ka ʻiʻo
• Hoʻohui maikaʻi ʻole nā ​​mākala maikaʻi ma hope o ka makahiki 10
• ʻŌpū ʻōpuʻu
• ʻLelo lohi
• ʻO nā mea ʻino o ka noho, me nā noho momona i ʻike ʻia ke mae i ke kala, nā noho huila, a me nā ʻala ʻaʻala maikaʻi ʻole.

Hiki paha ke hōʻino i ka retina o ka maka (retinitis pigmentosa).

Nā hoʻāʻo e hiki ke hana ʻia e kōkua i ke kuhi ʻana i kēia ʻano me:

• Hōʻike koko Apolipoprotein B
• Nānā ke koko e nānā no nā hemahema o ka wikamina (nā wikamina hiki ke hoʻōla ʻia ka momona, D, E, a me K)
• "Burr-cell" malformation o nā ʻulaʻula (acanthocytosis)
• Helu piha koko (CBC)
• Nā aʻo ʻana o Cholesterol
• Uila uila
• Hōʻike maka
• ʻO ka wikiwiki conduction nerve
• Nānā hāpana Stool

Loaʻa paha ka hoʻāʻo genetic no ka hoʻololi ʻana i ka MTP ʻāpana

Hoʻopili ka mālama ʻana i nā kaha he nui o nā mea hoʻoluʻu wikamina i loko o nā wikamina hiki ke hoʻoheheʻe ʻia ka momona (wikamina A, wikamina D, vitamini E, a me ka wikamina K).

Paipai pū ʻia nā mea kōkua linoleic acid.

Pono nā poʻe me kēia ʻano e kamaʻilio me kahi dietitian. Pono nā hoʻololi papaʻai e pale i nā pilikia o ka ʻōpū. Pili paha kēia i ka palena ʻana i ka lawe ʻana o kekahi ʻano momona.

Lawe ʻia nā mea hoʻohui o nā triglycerides kaulahao waena ma lalo o ka nānā ʻana a kahi kahu mālama ola. E hoʻohana ʻia lākou me ke akahele, no ka mea, he kumu paha lākou e hōʻino ai i ke ake.

Ma ke ʻano o ka hilinaʻi ʻana o ke kanaka i ka nui o nā pilikia o ka lolo a me nā ʻōnaehana.

Komo pū nā pilikia:

• Makapō
• Ka hōʻino noʻonoʻo
• Ka nalowale o ka hana o nā aʻa ākea, neʻeneʻe ʻole i hoʻohui ʻia (ataxia)

Kāhea i kāu mea hāʻawi inā loaʻa kāu pēpē a keiki paha i nā ʻōuli o kēia maʻi. Hiki i ke ʻōlelo aʻoaʻo genetic ke kōkua i ka ʻohana e hoʻomaopopo i ke ʻano a me nā pilikia o ka hoʻoilina ʻana iā ia, a aʻo pehea e mālama ai i ke kanaka.

ʻO nā mahele kiʻekiʻe o nā wikamina hiki ke hoʻoheheʻe ʻia ka momona e hoʻolohi i ka holomua o kekahi mau pilikia, e like me ka retina hōʻino a hoʻoliʻiliʻi ka ʻike.

Abetalipoproteinemia; Acanthocytosis; Ka nele o Apolipoprotein B

ʻO Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Nā kīnā i ka metabolism i ka lipids. 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 104.

ʻO Shamir R. Nā maʻi o ka malabsorption. 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 364.