isifo se-von Gierke

Isifo iVon Gierke yisimo lapho umzimba ungeke ukwazi ukudiliza i-glycogen. IGlycogen uhlobo lukashukela (ushukela) olugcinwa esibindini nasemisipha. Imvamisa yehlukaniswa ibe yi-glucose ukukunika amandla amaningi lapho uwadinga.

Isifo iVon Gierke sibizwa nangokuthi Uhlobo Lwe-glycogen storage disease (GSD I).

Isifo iVon Gierke senzeka lapho umzimba untula iprotheni (i-enzyme) ekhipha ushukela ku-glycogen. Lokhu kubangela inani elingajwayelekile le-glycogen ukuthi lakheke ezicutshini ezithile. Lapho i-glycogen ingaphulwanga kahle, iholela kushukela ophansi wegazi.

Isifo iVon Gierke sizuzwe njengefa, okusho ukuthi sidluliselwa ngemindeni. Uma bobabili abazali bephethe ikhophi engasebenziyo yofuzo oluhlobene nalesi simo, ingane ngayinye inethuba lama-25% (1 koku-4) lokuthola lesi sifo.

Lezi yizimpawu zesifo se-von Gierke:

• Ukulamba njalo nesidingo sokudla kaningi
• Ukulimala okulula nokopha kwamakhala
• Ukukhathala
• Ukuthukuthela
• Izihlathi ezidumbile, isifuba esincanyana nezitho zomzimba, nesisu esivuvukile

Umhlinzeki wakho wokunakekelwa kwezempilo uzokwenza ukuhlolwa komzimba.

Ukuhlolwa kungakhombisa izimpawu ze:

• Ukuthomba okulibazisekile
• Isibindi esandisiwe
• Gout
• Isifo samathumbu esivuthayo
• Izimila zesibindi
• Ishukela eliphansi kakhulu legazi
• Ukukhula okumile noma ukwehluleka ukukhula

Izingane ezinalesi sifo zivame ukutholakala ngaphambi kweminyaka yobudala engu-1.

Ukuhlolwa okungenziwa kufaka phakathi:

• Ukuvuthwa kwesibindi noma izinso
• Ukuhlolwa kukashukela egazini
• Ukuhlolwa kofuzo
• Ukuhlolwa kwegazi le-Lactic acid
• Izinga le-Triglyceride
• Uric acid ukuhlolwa kwegazi

Uma umuntu enalesi sifo, imiphumela yokuhlolwa izokhombisa ushukela wegazi ophansi namazinga aphezulu e-lactate (akhiqizwa nge-lactic acid), amafutha egazi (lipids), ne-uric acid.

Inhloso yokwelashwa ukugwema ushukela ophansi wegazi. Yidla njalo emini, ikakhulukazi ukudla okuqukethe ama-carbohydrate (isitashi). Izingane ezindala nabantu abadala bangathatha i-cornstarch ngomlomo ukuze bandise ukudla kwabo kwe-carbohydrate.

Kwezinye izingane, kufakwa ishubhu lokondla ngamakhala alo esiswini ubusuku bonke ukuhlinzeka ngoshukela noma isitashi sommbila esingavuthiwe. Ishubhu lingakhishwa njalo ekuseni. Ngenye indlela, ithubhu le-gastrostomy (G-tube) lingabekwa ukuletha ukudla ngqo esiswini ubusuku bonke.

Kungabekwa umuthi wokwehlisa i-uric acid egazini nokwehlisa ubungozi be-gout. Umhlinzeki wakho angaphinde anikeze imithi yokwelapha isifo sezinso, ama-lipids aphezulu, nokwandisa amangqamuzana alwa nokutheleleka.

Abantu abanesifo i-von Gierke abakwazi ukuphula kahle izithelo noma ubisi ushukela. Kungcono ukugwema le mikhiqizo.

Inhlangano Yezifo Zokulondolozwa KweGlycogen - www.agsdus.org

Ngokwelashwa, ukukhula, ukuthomba, kanye nekhwalithi yempilo sekuthuthukile kubantu abanesifo i-von Gierke. Labo abakhonjwayo futhi baphathwe ngokucophelela besebancane bangaphila babe ngabantu abadala.

Ukwelashwa kusenesikhathi kunciphisa nezinga lezinkinga ezinzima njenge:

• Gout
• Ukuhluleka kwezinso
• Ushukela wegazi ophansi osongela impilo
• Izimila zesibindi

Lezi zinkinga zingenzeka:

• Ukutheleleka njalo
• Gout
• Ukuhluleka kwezinso
• Izimila zesibindi
• I-osteoporosis (ukunciphisa amathambo)
• Ukudlikizela, ukukhathala, ukudideka ngenxa kashukela ophansi wegazi
• Ukuphakama okufushane
• Izici zobulili zesibili ezingathuthukisiwe (amabele, izinwele ze-pubic)
• Izilonda zomlomo noma zamathumbu

Shayela umhlinzeki wakho uma unomlando womndeni wesifo sokugcina se-glycogen noma ukufa kwezinsana kusenesikhathi ngenxa kashukela ophansi wegazi.

Ayikho indlela elula yokuvimbela isifo sokugcina se-glycogen.

Imibhangqwana efisa ukuba nengane ingafuna ukwelulekwa nokuhlolwa ngezakhi zofuzo ukuthola ukuthi ingcuphe yokwedlulisa isifo i-von Gierke.

Thayipha isifo sokugcina i-glycogen

UBonnardeaux A, uBichet DG. Ukuphazamiseka okuzuzwe njenge-tubula yezinso. Ku: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, ama-eds. IBrenner neRector's The Kidney. Umhlaka 10. IPhiladelphia, PA: Elsevier; 2016: isahluko 45.

IKishnani PS, Chen YT. Amaphutha ku-metabolism ye-carbohydrate. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 105.

ISantos BL, iSouza CF, iSchuler-Faccini L, et al. Uhlobo lwesifo sokugcina se-Glycogen 1: iphrofayli yomtholampilo neyelebhu UJ Pediatra (Rio J). 2014; 90 (6): 572-579. I-PMID: 25019649 www.ncbi.nlm.nih.gov/pubmed/25019649.