Lefu la Bassen-Kornzweig

Bassen-Kornzweig syndrome ke lefu le sa tloaelehang le fetisoang ke malapa. Motho ha a khone ho monya mafura a phepo ka botlalo ka maleng.

Lefu la Bassen-Kornzweig le bakoa ke bofokoli ba lefutso bo bolellang 'mele ho etsa lipoprotein (limolek'hule tsa mafura tse kopantsoeng le protheine). Phoso e etsa hore ho be thata ho 'mele ho cheka mafura le livithamini tsa bohlokoa.

Matšoao a kenyelletsa:

• Mathata a ho leka-lekana le khokahano
• Mokokotlo oa mokokotlo
• Pono e fokotsehileng e mpefalang ha nako e ntse e feta
• Ho lieha ho ntlafatsa
• Ho hloleha ho atleha (hola) boseeng
• Bofokoli ba mesifa
• Khokahano e mpe ea mesifa e atisang ho hlaha kamora lilemo tse 10
• Mpa e tsoelang pele
• Puo e sa hlakang
• Litulo tse sa tloaelehang, ho kenyelletsa le litulo tse mafura tse shebahalang li soeufetse ka 'mala, litulo tse harelaneng le litulo tse nkhang hampe ka mokhoa o sa tloaelehang

Ho ka ba le tšenyo ho retina ea leihlo (retinitis pigmentosa).

Liteko tse ka etsoang ho thusa ho fumana boemo bona li kenyelletsa:

• Teko ea mali ea Apolipoprotein B
• Liteko tsa mali ho batla bofokoli ba vithamine (livithamini tse qhibilihang mafura A, D, E, le K)
• "Burr-cell" ho senyeha ha lisele tse khubelu (acanthocytosis)
• Palo e felletseng ea mali (CBC)
• Lithuto tsa k'holeseterole
• Electromyography
• Ho hlahloba mahlo
• Lebelo la ho khanna methapo
• Sampole ea tlhahlobo ea setuloana

Liteko tsa lefutso li ka ba teng bakeng sa liphetoho liphatseng tsa lefapha la MTP liphatsa tsa lefutso.

Kalafo e kenyelletsa litekanyo tse kholo tsa li-vithamine tse nang le livithamini tse nang le mafura (vithamine A, vithamine D, vithamine E le vithamine K).

Linoleic acid e boetse e khothalletsoa.

Batho ba nang le boemo bona ba lokela ho bua le setsebi sa phepo e nepahetseng. Liphetoho tsa lijo li hlokahala ho thibela mathata a mala. Sena se ka kenyelletsa ho fokotsa ho ja mefuta e meng ea mafura.

Lisebelisoa tsa li-triglycerides tse mahareng li nkuoa tlas'a taolo ea mofani oa tlhokomelo ea bophelo. Li lokela ho sebelisoa ka hloko, hobane li ka baka tšenyo ea sebete.

Hore na motho o sebetsa hantle hakae ho latela boholo ba mathata a boko le sistimi.

Mathata a ka kenyelletsa:

• Bofofu
• Ho senyeha ha kelello
• Ho lahleheloa ke mosebetsi oa methapo ea meriana, tsamaiso e sa lumellaneng (ataxia)

Bitsa mofani oa hau haeba lesea la hao kapa ngoana a e-na le matšoao a lefu lena. Keletso ea lefutso e ka thusa malapa ho utloisisa boemo le likotsi tsa ho bo rua, le ho ithuta ho hlokomela motho eo.

Tekanyo e phahameng ea livithamini tse qhibilihang mafura e ka liehisa kholo ea mathata a mang, joalo ka tšenyo ea "retina" le pono e fokotsehileng.

Abetalipoproteinemia; Acanthocytosis; Khaello ea Apolipoprotein B

Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Liphoso tsa metabolism ea lipids. 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 104.

Shamir R. Mathata a ho hloka malabsorption. 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 364.