Matenda a Hartnup

Matenda a Hartnup ndi chibadwa chomwe chimakhala ndi vuto pakunyamula ma amino acid (monga tryptophan ndi histidine) ndimatumbo ndi impso zazing'ono.

Matenda a Hartnup ndimayendedwe amtundu wama amino acid. Ndi mkhalidwe wobadwa nawo. Izi zimachitika chifukwa cha kusintha kwa SLC6A19 jini. Mwana ayenera kulandira cholowa cholakwika kuchokera kwa makolo onse kuti amkhudzidwe kwambiri.

Matendawa amapezeka zaka zapakati pa 3 mpaka 9.

Anthu ambiri sawonetsa zisonyezo. Ngati zizindikiro zimachitika, nthawi zambiri zimawoneka ali mwana ndipo zimatha kuphatikiza:

• Kutsekula m'mimba
• Khalidwe limasintha
• Mavuto amitsempha (neurologic), monga kamvekedwe kachilendo ndi mayendedwe osagwirizana
• Kutupa kofiyira khungu, nthawi zambiri khungu likakhala padzuwa
• Kuzindikira kuwala (photosensitivity)
• Msinkhu waufupi

Wopereka chithandizo chamankhwala adzaitanitsa mayeso amkodzo kuti aone ngati mulibe amino acid ambiri. Magawo amino acid ena akhoza kukhala abwinobwino.

Wothandizira wanu akhoza kuyesa mtundu wa jini womwe umayambitsa vutoli. Mayeso achilengedwe amathanso kulamulidwa.

Mankhwalawa ndi awa:

• Pewani kuwonetseredwa ndi dzuwa povala zovala zoteteza komanso kugwiritsa ntchito zotchingira dzuwa ndi zoteteza 15 kapena kupitilira apo
• Kudya zakudya zamapuloteni
• Kutenga zowonjezera zomwe zili ndi nicotinamide
• Kulandira chithandizo chamankhwala amisala, monga kumwa mankhwala opanikizika kapena kupatsa mphamvu, ngati kusinthasintha kwamaganizidwe kapena mavuto ena amisala

Anthu ambiri omwe ali ndi vutoli amatha kuyembekezera kukhala moyo wabwino wopanda chilema. Nthawi zambiri, pakhala pali malipoti a matenda akulu amanjenje komanso kufa kwamabanja omwe ali ndi vutoli.

Nthawi zambiri, palibe zovuta. Zovuta zikachitika zingaphatikizepo:

• Kusintha kwa khungu komwe kumakhala kosatha
• Matenda amisala
• Kutupa
• Kusagwirizana kosagwirizana

Zizindikiro zamanjenje nthawi zambiri zimasinthidwa. Komabe, nthawi zina amatha kukhala owopsa kapena owopseza moyo.

Funsani wothandizira wanu ngati muli ndi zodabwitsazi, makamaka ngati muli ndi mbiri ya banja la matenda a Hartnup. Upangiri wa chibadwa umalimbikitsidwa ngati muli ndi banja lomwe lili ndi vutoli ndipo mukukonzekera kukhala ndi pakati.

Upangiri wa chibadwa musanalowe m'banja ndi pakati ungathandize kupewa milandu ina. Kudya zakudya zamapuloteni kwambiri kumatha kuteteza kuperewera kwa amino acid komwe kumayambitsa matenda.

Bhutia YD, Ganapathy V. Mapuloteni chimbudzi ndi kuyamwa. Mu: Anati HM, mkonzi. Physiology ya Gawo la M'mimba. Lachisanu ndi chimodzi. Philadelphia, PA: Elsevier; 2018: mutu 47.

Gibson KM, Pearl PL. Kubadwa zolakwa kagayidwe ndi mantha dongosolo. Mu: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, olemba. Neurology ya Bradley mu Kuchita Zachipatala. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2016: chap 91.

Kliegman RM, Stanton BF, St. Geme JW, ndi al. Zofooka zamagetsi zama amino acid. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 103.