Hartnup kusagadzikana

Hartnup kusagadzikana chimiro chemajini umo mune hurema mukutakura kwevamwe amino acids (senge tryptophan uye histidine) nemukati mudumbu neitsvo.

Hartnup kusagadzikana chimiro chemagetsi chinosanganisira amino acids. Iyo inzvimbo yekugara nhaka. Aya mamiriro anoitika nekuda kwekuchinja mune SLC6A19 geni. Mwana anofanirwa kugara nhaka kopi yeakaremara jeni kubva kuvabereki vese kuitira kuti anyanye kukanganiswa.

Mamiriro acho anowanzoonekwa pakati pemakore matatu kusvika pamakore mapfumbamwe.

Vanhu vazhinji havaratidze zviratidzo. Kana zviratidzo zvikaitika, zvinowanzoonekwa muhudiki uye zvinogona kusanganisira:

• Manyoka
• Maitiro anochinja
• Nervous system (neurologic) matambudziko, senge asina kujairika mhasuru toni uye zvisina kufambiswa mafambiro
• Dzvuku, ine ganda rinoputika ganda, kazhinji apo ganda rinoratidzwa kune chezuva
• Kunzwisisa kuchiedza (photosensitivity)
• Pfupi chimiro

Anopa hutano anopa kuraira weti kuti aongorore huwandu hwakawanda hweasina kwayakarerekera amino acids. Iwo mazinga emamwe amino acids anogona kunge akajairwa.

Wako mupi anogona kuyedza geni rinokonzeresa mamiriro aya. Biochemical bvunzo dzinogona zvakare kurairwa.

Mishonga inosanganisira:

• Kudzivirira kuratidzwa kwezuva nekupfeka mbatya dzekudzivirira uye kushandisa girazi rezuva rine chinhu chekudzivirira chegumi neshanu kana kupfuura
• Kudya kwepamusoro-protein chikafu
• Kutora zvinowedzera zvine nicotinamide
• Kuita kurapwa kwehutano hwepfungwa, sekutora mishonga yekudzvinyirira kana kusimbisa mafungiro, kana mafungiro kana zvimwe zvinetso zvehutano hwepfungwa zvichiitika

Vazhinji vanhu vane chirwere ichi vanogona kutarisira kurarama hupenyu hwakajairika vasina hurema. Kazhinji, pakave nemishumo yechirwere chetsinga chakakomba uye kunyangwe kufa mumhuri dzine chirwere ichi.

Muzviitiko zvakawanda, hapana matambudziko. Zvinetso pazvinoitika zvinogona kusanganisira:

• Shanduko muvara rweganda dzinogara zvachose
• Matambudziko ehutano hwepfungwa
• Mapundu
• Kufambisa kusingaenderane

Kutya system zviratidzo zvinowanzo shandurwa. Zvisinei, muzviitiko zvisingawanzoitiki vanogona kunge vakaoma kana kutyisidzira hupenyu.

Fonera mupi wako kana iwe uine zviratidzo zveichi chiitiko, kunyanya kana iwe uine nhoroondo yemhuri yeHartnup kusagadzikana. Genetic counselling inokurudzirwa kana iwe uine mhuri nhoroondo yeichi chiitiko uye urikuronga nhumbu.

Kurairidzwa kwetsika usati waroora kana kubata pamuviri kunogona kubatsira kudzivirira zvimwe zviitiko. Kudya kwepamusoro-protein chikafu kunogona kudzivirira amino acid kushomeka kunokonzera zviratidzo.

Bhutia YD, Ganapathy V. Mapuroteni kugaya uye kutora. Mune: Akadaro HM, ed. Physiology yeGastrointestinal Tract. 6th ed. Philadelphia, PA: Elsevier; 2018: chits. 47.

Gibson KM, Pearl PL. Inborn zvikanganiso zvemetabolism uye tsinga system. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chits 91.

Kliegman RM, Stanton BF, St. Geme JW, uye al. Kukanganisa mune metabolism yemamino acids. 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. 103.