Isifo seBassen-Kornzweig

Isifo seBassen-Kornzweig sisifo esinqabileyo esidluliswa ziintsapho. Umntu akakwazi ukufunxa ngokupheleleyo amanqatha okutya ngokusebenzisa amathumbu.

Isifo seBassen-Kornzweig sibangelwa sisiphene kwimfuza exelela umzimba ukuba wenze ii-lipoproteins (iimolekyuli zamafutha zidityaniswe neprotein). Isiphene senza ukuba kubenzima emzimbeni ukucola ukutya okunamafutha kunye neevithamini eziyimfuneko.

Iimpawu zibandakanya:

• Ibhalansi kunye nokulungelelanisa ubunzima
• Ukugoba komqolo
• Ukwehla kombono oba mandundu ngokuhamba kwexesha
• Ukulibaziseka kophuhliso
• Ukusilela ukukhula (ukukhula) ebusaneni
• Ubuthathaka bemisipha
• Ukulungelelaniswa okungalunganga kwemisipha okuhlala kukhula emva kweminyaka eyi-10
• Isisu esiphumayo
• Intetho egudileyo
• Isitulo esingaqhelekanga, kubandakanya ilindle elinamafutha elibonakala limhlophe ngombala, izitulo ezinqabileyo, kunye nezihlalo ezinukayo ngokungaqhelekanga

Kunokubakho ukonakala kwi-retina yeliso (i-retinitis pigmentosa).

Iimvavanyo ezinokuthi zenziwe ukunceda ukufumanisa le meko zibandakanya:

• Uvavanyo lwegazi lwe-Apolipoprotein B
• Uvavanyo lwegazi ukujonga ukusilela kweevithamini (iivithamini ezinyibilikayo ezinamafutha A, D, E, kunye noK)
• "I-Burr-cell" malformation yeeseli ezibomvu (acanthocytosis)
• Gcwalisa ubalo lwegazi (CBC)
• Izifundo zeCholesterol
• Umbane wombane
• Uvavanyo lwamehlo
• Isantya sokuqhuba kwemithambo
• Uhlalutyo lwesampulu yestool

Ukuvavanywa kwemfuza kungafumaneka kutshintsho kwifayile ye- MTP Uhlobo.

Unyango lubandakanya amathamo amakhulu eevithamini ezinavithamini ezinamafutha (ivithamin A, ivithamin D, ivithamin E, kunye novithamini K).

Izongezo zeLinoleic acid ziyacetyiswa.

Abantu abakule meko kufuneka bathethe nomntu otya ukutya. Ukutshintsha kokutya kuyafuneka ukuthintela iingxaki zesisu. Oku kunokubandakanya ukunciphisa ukunciphisa ezinye iintlobo zamafutha.

Izongezo zee-triglycerides eziphakathi zithathwa phantsi kweliso lomboneleli wezempilo. Kufuneka zisetyenziswe ngononophelo, kuba zinokubangela ukonakala kwesibindi.

Ukusebenza kakuhle komntu kuxhomekeke kubungakanani bengqondo kunye nenkqubo yeengxaki.

Iingxaki zinokubandakanya:

• Ubumfama
• Ukonakala kwengqondo
• Ukuphulukana nomsebenzi wee-neripheral nerves, intshukumo engahambelaniyo (ataxia)

Tsalela umnikezeli wakho ukuba usana lwakho okanye umntwana uneempawu zesi sifo. Iingcebiso ngemfuzo zinokunceda iintsapho ziqonde imeko kunye nobungozi bokuyifumana, kwaye zifunde nokukhathalela umntu.

Amanani aphezulu eevithamini ezinyibilikayo ezinamafutha zinokucothisa ukuqhubela phambili kweengxaki ezithile, ezinjengomonakalo weretina kunye nokwehla kombono.

I-Abetalipoproteinemia; Acanthocytosis; Ukusilela kwe-Apolipoprotein B

IKliegman RM, iSt Geme JW, iBlum NJ, i-Shah SS, iTasker RC, uWilson KM. Iziphene kwimetabolism kwi-lipids. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 104.

UShamir R. Ukuphazamiseka kwendlela engalunganga. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 364.