von chirwere cheGierke

Von Gierke chirwere chiitiko umo muviri usingakwanise kuputsa glycogen. Glycogen chimiro cheshuga (glucose) iyo inochengetwa muchiropa uye mhasuru. Iyo inowanzo kuputswa kuita glucose kuti ikupe iwe yakawanda simba kana iwe uchiida iyo.

Von Gierke chirwere chinonziwo Type I glycogen kuchengetedza chirwere (GSD I).

Von Gierke chirwere chinoitika apo muviri unoshaya protein (enzyme) inoburitsa glucose kubva glycogen. Izvi zvinokonzera huwandu husina kujairika hweglycogen kuvaka mune mamwe matukisi. Kana glycogen isina kuputswa zvakanaka, inotungamira kune yakaderera ropa shuga.

Von Gierke chirwere chakagarwa nhaka, zvinoreva kuti inopfuudzwa kuburikidza nemhuri. Kana ivo vaviri vabereki vakatakura kopi isingashande yegene inoenderana nemamiriro aya, mumwe nemumwe wevana vavo ane 25% (1 mu4) mukana wekuvandudza chirwere.

Izvi zviratidzo zvehosha yeG vonke:

• Nguva dzose nzara uye inoda kudya kazhinji
• Kupwanya kuri nyore uye kubuda ropa mumhino
• Kuneta
• Kushatirwa
• Puffy matama, chipfuva chakaonda uye mitezo, uye kuzvimba dumbu

Mutapi wako wezvehutano achaita bvunzo dzepanyama.

Bvunzo dzinogona kuratidza zviratidzo zve:

• Kunonoka kuyaruka
• Yakawedzera chiropa
• Gout
• Chirwere chekuputira ura
• Chiropa tumota
• Yakanyanya yakaderera ropa shuga
• Kudzikira kukura kana kutadza kukura

Vana vane chirwere ichi vanowanzoonekwa vasati vava nemakore 1.

Miedzo inogona kuitwa inosanganisira:

• Biopsy yechiropa kana itsvo
• Ropa shuga bvunzo
• Kuongorora genetic
• Lactic acid ropa bvunzo
• Triglyceride nhanho
• Uric acid yeropa bvunzo

Kana munhu aine chirwere ichi, bvunzo dzinozoratidza yakaderera ropa shuga uye huwandu hwakanyanya hwe lactate (inogadzirwa kubva kune lactic acid), mafuta eropa (lipids), uye uric acid.

Chinangwa chekurapa ndechekudzivirira yakaderera ropa shuga. Idya kazhinji mukati mezuva, kunyanya chikafu chine makabhohaidhiretsi (sitachi). Vana vakura nevakuru vanogona kutora chibage chegorosi nemuromo kuti vawedzere kudya kwavo kwehydrohydrate.

Mune vamwe vana, chubhu yekudyisa inoiswa kuburikidza nemhuno mumudumbu usiku hwese kuti ipe shuga kana chibage chisina kubikwa. Iyo chubhu inogona kuburitswa mangwanani ega ega. Neimwe nzira, gastrostomy tube (G-tube) inogona kuiswa kuti iendese chikafu yakanangana mudumbu husiku hwese.

Mushonga wekudzikisa uric acid muropa uye nekudzora njodzi yegout inogona kupihwa. Wako mupi anogona zvakare kupa mishonga yekurapa chirwere cheitsvo, yakakwira lipids, uye kuwedzera maseru anorwisa hutachiona.

Vanhu vane chirwere cheVon Gierke havagone kuputsa chibereko kana mukaka shuga. Zvakanaka kudzivisa izvi zvigadzirwa.

Sangano reGlycogen Kuchengetedza Zvirwere - www.agsdus.org

Nokurapwa, kukura, kuyaruka, uye hupenyu hwehupenyu hwave nani kune vanhu vane von Gierke chirwere. Avo vanozivikanwa uye vakanyatso kurapwa pazera diki vanogona kurarama mukukura.

Kurapa kwekutanga zvakare kunoderedza mwero wezvinetso zvakakomba se:

• Gout
• Itsvo kutadza
• Hupenyu-hunotyisidzira yakaderera ropa shuga
• Chiropa tumota

Aya matambudziko anogona kuitika:

• Kakawanda hutachiona
• Gout
• Itsvo kutadza
• Chiropa tumota
• Osteoporosis (kuonda mapfupa)
• Kufenda, kuneta, kuvhiringidzika nekuda kweshuga yeropa shoma
• Kureba kupfupi
• Asina kusimukira echipiri epabonde maitiro (mazamu, pubic vhudzi)
• Maronda emukanwa kana ura

Fonera mupi wako kana iwe uine nhoroondo yemhuri yechirwere chekuchengetedza glycogen kana kufa kwekutanga kwevana nekuda kweshuga yeropa shoma.

Iko hakuna yakapusa nzira yekudzivirira glycogen kuchengetedza chirwere.

Vakaroorana vanoshuvira kuve nemwana vangatsvage kurairwa kwemajini uye kuyedzwa kuti vaone njodzi yavo yekupfuudza chirwere cheVon Gierke.

Tora I glycogen kuchengetedza chirwere

Bonnardeaux A, Bichet DG. Nhaka kusagadzikana kweiyo renal tubule. Mune: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner uye Rector Iyo Itsvo. 10th ed. Philadelphia, PA: Elsevier; 2016: chits.

Kishnani PS, Chen YT. Kukanganisa mune metabolism yemakabohydrate. 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. 105.

Santos BL, Souza CF, Schuler-Faccini L, uye al. Glycogen kuchengetedza chirwere mhando 1: kiriniki uye murabhoritari chimiro. J Pediatra (Rio J). 2014; 90 (6): 572-579. PMID: 25019649 www.ncbi.nlm.nih.gov/pubmed/25019649.