Bassen-Kornzweig chirwere

Bassen-Kornzweig syndrome chirwere chisingawanzo pfuudzwa kuburikidza nemhuri. Munhu wacho haakwanise kutora zvakakwana mafuta echikafu kuburikidza nematumbu.

Bassen-Kornzweig syndrome inokonzerwa nehurema mune geni rinotaurira muviri kuti ugadzire lipoprotein (mamorekuru emafuta akabatanidzwa neprotein). Iko kuremara kunoita kuti zviomere muviri kunyatso kugaya mafuta uye akakosha mavitamini.

Zviratidzo zvinosanganisira:

• Kuenzanisa uye kubatana matambudziko
• Kutsemuka kwemuzongoza
• Kuderera kwemaonero kunowedzera kuwedzera nekufamba kwenguva
• Kubudirira kunonoka
• Kukundikana kubudirira (kukura) muhucheche
• Tsvina kushaya simba
• Urombo hwakabatana mhasuru iyo inowanzo kukura mushure memakore gumi
• Kubuda mudumbu
• Kutaura kwakadzikira
• Zvigaro zvisina kujairika, kusanganisira zvituru zvine mafuta zvinoita kunge zvakacheneruka muvara, zvigaro zvine tsvina, uye zvituru zvisina kunhuwa

Panogona kuve nekukuvara kune iro reziso reziso (retinitis pigmentosa).

Miedzo inogona kuitwa kubatsira kuongorora mamiriro aya inosanganisira:

• Apolipoprotein B kuongororwa kweropa
• Ropa bvunzo kuti utarise kushomeka kwevhitamini (mafuta-akanyungudika mavhitamini A, D, E, uye K)
• "Burr-cell" kukanganisa kwemasero matsvuku (acanthocytosis)
• Yakazara kuverenga ropa (CBC)
• Zvidzidzo zvecholesterol
• Electromyography
• Kuongorora kwemaziso
• Tsinga conduction velocity
• Stool sampuro yekuongorora

Genetic kuyedza kunogona kuwanikwa shanduko mu MTP geni.

Kurapa kunosanganisira kuwanda kwemavhitamini anowedzera ane mavhitamini ane mafuta (vhitamini A, vhitamini D, vhitamini E, uye vhitamini K).

Linoleic acid inowedzera zvakare inokurudzirwa.

Vanhu vane chirwere ichi vanofanirwa kutaura kuchikafu. Shanduko dzekudya dzinodiwa kudzivirira matambudziko emudumbu. Izvi zvinogona kusanganisira kudzikisira kudya kwemamwe marudzi emafuta.

Zvekuwedzeredza zvepakati-cheni triglycerides zvinotorwa pasi pekutarisirwa kwemubatsiri wezvehutano. Inofanira kushandiswa nekuchenjerera, nekuti inogona kukonzera kukuvara kwechiropa.

Kuita zvakanaka kwemunhu kunoenderana nehukuru hwehuropi uye nehurongwa hwehurongwa matambudziko.

Zvinetso zvinogona kusanganisira:

• Bofu
• Kuderera kwepfungwa
• Kurasikirwa kwekushanda kwemitsipa yenhengo, kusagadzikana kufamba (ataxia)

Fonera mupiki wako kana mwana wako kana mwana ane zviratidzo zvechirwere ichi. Kurairidzwa kwemajini kunogona kubatsira mhuri kunzwisisa mamiriro uye njodzi dzekugara nhaka, uye kudzidza maitiro ekuchengeta munhu wacho.

Kuwedzera kwemafuta emavhitaminzi ane mafuta anogona kudzora kufambira mberi kwemamwe matambudziko, sekukuvara kwetina uye kuderera kwemaonero.

Abetalipoproteinemia; Acanthocytosis; Apolipoprotein B kushomeka

Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Kukanganisa mune metabolism mune lipids. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 104.

Shamir R. Kukanganiswa kwemalabsorption. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chap 364.