Isifo seBassen-Kornzweig

I-Bassen-Kornzweig syndrome yisifo esingajwayelekile esidluliselwa emindenini. Umuntu akakwazi ukumunca ngokugcwele amafutha ekudleni ngamathumbu.

I-Bassen-Kornzweig syndrome ibangelwa ukukhubazeka kofuzo olutshela umzimba ukuthi wakhe ama-lipoprotein (ama-molecule wamafutha ahlanganiswe namaprotheni). Isici senza kube nzima emzimbeni ukugaya kahle amavithamini anamafutha abalulekile.

Izimpawu zifaka:

• Ubunzima bokulinganisa nokuxhumanisa
• Ukugoba komgogodla
• Ukwehla kombono okuya ngokuya kuba kubi ngokuhamba kwesikhathi
• Ukubambezeleka kwentuthuko
• Ukwehluleka ukukhula (ukukhula) ebuntwaneni
• Ubuthakathaka bemisipha
• Ukubumbana kwemisipha okungalungile okuvame ukukhula ngemuva kweminyaka eyi-10
• Isisu esiphumile
• Inkulumo eshisiwe
• Ukungahambi kahle kwesitulo, kufaka phakathi indle enamafutha ebonakala imbala ngombala, indle ebandayo, nezitulo ezinuka kabi ngokungavamile

Kungahle kube nomonakalo ku-retina yeso (i-retinitis pigmentosa).

Ukuhlolwa okungenziwa ukusiza ukuxilonga lesi simo kufaka:

• Ukuhlolwa kwegazi i-Apolipoprotein B
• Ukuhlolwa kwegazi ukubheka ukusweleka kwamavithamini (amavithamini ancibilikayo anamafutha A, D, E, noK)
• "Burr-cell" okungahambi kahle kwamangqamuzana abomvu (acanthocytosis)
• Qedela ukubalwa kwegazi (CBC)
• Izifundo ze-cholesterol
• I-Electromyography
• Ukuhlolwa kwamehlo
• Isivinini sokuqhuba imizwa
• Ukuhlaziywa kwesampula seStool

Ukuhlolwa kofuzo kungatholakalela ukuguquka kwesimo kufayela le- MTP isakhi sofuzo.

Ukwelashwa kubandakanya imithamo emikhulu yamavithamini anezithako ezinamavithamini ancibilika okunamafutha (uvithamini A, uvithamini D, uvithamini E novithamini K).

Ama-Linoleic acid supplements nawo anconywa.

Abantu abanalesi simo kufanele bakhulume nesazi sokudla. Izinguquko zokudla ziyadingeka ukuvimbela izinkinga zesisu. Lokhu kungabandakanya ukunciphisa ukunciphisa ezinye izinhlobo zamafutha.

Izithasiselo ze-triglycerides yamaketanga aphakathi nendawo zithathwa ngaphansi kweso lomhlinzeki wezokunakekelwa kwempilo. Kufanele zisetshenziswe ngokuqapha, ngoba zingadala ukulimala kwesibindi.

Ukuthi umuntu wenza kahle kangakanani kuncike enanini lezinkinga zobuchopho nezinhlelo zezinzwa.

Izinkinga zingafaka:

• Ubumpumputhe
• Ukuwohloka kwengqondo
• Ukulahleka komsebenzi wezinzwa zomzimba, ukunyakaza okungahambisani (ataxia)

Shayela umhlinzeki wakho uma usana lwakho noma ingane inezimpawu zalesi sifo. Ukwelulekwa ngofuzo kungasiza imindeni ukuthi iqonde isimo nobungozi bokuyithola njengefa, futhi ifunde nokuthi ingamnakekela kanjani lowo muntu.

Ukweqiwa okuphezulu kwamavithamini ancibilika ngamafutha kunganciphisa ukuqhubeka kwezinkinga ezithile, njengokulimala kwe-retina nokunciphisa ukubona.

Abetalipoproteinemia; I-Acanthocytosis; Ukushoda kwe-Apolipoprotein B

IKliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Amaphutha ku-metabolism kuma-lipids. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 104.

UShamir R. Ukuphazamiseka kokungenzi kahle kwe-malabsorption. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 364.