von Gierke cuta

Cutar Von Gierke yanayi ne wanda jiki ba zai iya rusa glycogen ba. Glycogen wani nau'i ne na sukari (glucose) wanda aka adana a cikin hanta da tsokoki. Kullum ya rabu zuwa glucose don ba ku ƙarin ƙarfi lokacin da kuke buƙatar shi.

Von Gierke kuma ana kiranta Cutar I glycogen ajiyar cuta (GSD I).

Cutar Von Gierke na faruwa ne lokacin da jiki ya rasa furotin (enzyme) wanda ke fitar da glucose daga glycogen. Wannan yana haifar da yawan ƙwayar glycogen a cikin wasu kayan kyallen takarda. Lokacin da glycogen bai lalace yadda ya kamata ba, yakan haifar da karancin suga a cikin jini.

Cutar Von Gierke ta gaji, wanda ke nufin ana yada ta cikin dangi. Idan iyaye biyu suna dauke da kwayar halittar da ba ta aiki ba dangane da wannan yanayin, kowane ɗayansu na da damar 25% (1 cikin 4) na cutar.

Waɗannan su ne alamun cutar von Gierke:

• Jin yunwa koyaushe kuma kuna buƙatar cin abinci sau da yawa
• Barami mai sauƙi da hanci
• Gajiya
• Rashin fushi
• Cheekan kumbura, siririn kirji da gabobi, da kumbura ciki

Mai ba da lafiyar ku zai yi gwajin jiki.

Jarrabawar na iya nuna alamun:

• Balaga da aka jinkirta
• Liverara hanta
• Gout
• Ciwon hanji mai kumburi
• Ciwan hanta
• Mai tsananin ƙarancin sukari a cikin jini
• Tsanani girma ko rashin girma

Yaran da ke da wannan yanayin yawanci akan gano su kafin su kai shekara 1.

Gwajin da za a iya yi sun hada da:

• Biopsy na hanta ko koda
• Gwajin sukarin jini
• Gwajin kwayoyin halitta
• Gwajin jinin lactic acid
• Matakan Triglyceride
• Gwajin jini na Uric acid

Idan mutum yana da wannan cutar, sakamakon gwajin zai nuna ƙananan sukarin jini da yawan lactate (wanda aka samar daga lactic acid), kitse na jini (lipids), da uric acid.

Manufar magani ita ce a guji rage yawan sikari a cikin jini. Ka yawaita cin abinci da rana, musamman abincin da ke dauke da sinadarin ‘carbohydrates’ (sitaci). Manya yara da manya na iya ɗaukar masar mashi da baki don ƙara yawan kuzarin da suke sha.

A wasu yara, ana sanya bututun ciyarwa ta hancinsu cikin ciki tsawon dare don samar da sugars ko masarar da ba a dafa ba. Ana iya fitar da bututun a kowace safiya. A madadin, ana iya sanya bututun ciki (G-tube) don isar da abinci kai tsaye zuwa cikin ciki da daddare.

Ana iya ba da magani don rage uric acid a cikin jini da rage haɗarin gout. Mai ba ku sabis zai iya ba da umarnin magunguna don magance cututtukan koda, babban lipids, da ƙara ƙwayoyin da ke yaƙi da kamuwa da cuta.

Mutanen da ke da cutar von Gierke ba za su iya rarraba 'ya'yan itace ko sukarin madara yadda ya kamata ba. Zai fi kyau a guji waɗannan samfuran.

Forungiyar Cutar Cututtukan Glycogen - www.agsdus.org

Tare da magani, girma, balaga, da ingancin rayuwa sun inganta ga mutane masu cutar von Gierke. Wadanda aka gano kuma aka kula dasu da kyau tun suna ƙuruciya zasu iya rayuwa cikin girma.

Kulawa da wuri kuma yana rage raunin manyan matsaloli kamar:

• Gout
• Rashin koda
• Rashin barazanar sukarin jini mai barazanar rai
• Ciwan hanta

Wadannan rikitarwa na iya faruwa:

• Yawaitar cuta
• Gout
• Rashin koda
• Ciwan hanta
• Osteoporosis (ƙananan ƙasusuwa)
• Rashin ƙarfi, kasala, rikicewa saboda ƙarancin sukari a cikin jini
• Gajeren gajere
• Characteristicsananan halayen halayen jima'i (ƙirji, gashin gashi)
• Ulcer ta baki ko ta hanji

Kira mai ba ku sabis idan kuna da tarihin iyali na cututtukan glycogen ko mutuwar jarirai da wuri saboda ƙarancin sukari a cikin jini.

Babu wata hanya mai sauƙi don hana cutar ajiyar glycogen.

Ma'auratan da ke son haihuwar jariri na iya neman shawara da gwajin kwayar halitta don sanin haɗarinsu na wucewa daga cutar von Gierke.

Rubuta I cutar glycogen

Bonnardeaux A, Bichet DG. Rikicin gado na koda tubule. A cikin: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner da Rector na Koda. 10 ed. Philadelphia, PA: Elsevier; 2016: babi na 45.

Kishnani PS, Chen Y-T. Laifi a cikin metabolism na carbohydrates. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 105.

Santos BL, Souza CF, Schuler-Faccini L, et al. Nau'in 1 cutar cututtukan Glycogen: asibiti da kuma dakin gwaje-gwaje. J Pediatra (Rio J). 2014; 90 (6): 572-579. PMID: 25019649 www.ncbi.nlm.nih.gov/pubmed/25019649.