Isifo se-von Gierke

Isifo seVon Gierke yimeko apho umzimba ungenakho ukophula i-glycogen. IGlycogen luhlobo lweswekile (iswekile) egcinwa esibindini nakwizihlunu. Ihlala yaphulwe ibe yiglucose ukuze ikunike amandla ngakumbi xa uyidinga.

Isifo seVon Gierke sikwabizwa ngokuba sisifo sokuGcina i-glycogen (GSD I).

Isifo seVon Gierke senzeka xa umzimba ungenayo iprotein (enzyme) ekhupha iswekile kwi-glycogen. Oku kubangela inani elingaqhelekanga le-glycogen ukwakha kwizicubu ezithile. Xa i-glycogen ingaphulwanga ngokufanelekileyo, ikhokelela kwiswekile esezantsi yegazi.

Isifo iVon Gierke sizuzwa njengelifa, oko kuthetha ukuba sidluliselwa kwiintsapho. Ukuba bobabini abazali baphethe ikopi engasebenziyo yemfuza enxulumene nale meko, umntwana ngamnye kubo une-25% (1 in 4) ithuba lokuphuhlisa esi sifo.

Ezi ziimpawu zesifo se-von Gierke:

• Ukulamba rhoqo kunye nesidingo sokutya rhoqo
• Ukutyumka ngokulula kunye nokuphuma kweempumlo
• Ukudinwa
• Ukucaphuka
• Izidlele ezikhukhumeleyo, isifuba esibhityileyo kunye nemilenze, kunye nesisu esidumbileyo

Umboneleli wakho wezempilo uya kwenza uvavanyo lomzimba.

Uviwo lunokubonisa iimpawu zoku:

• Ukulibaziseka kokufikisa
• Ukwandiswa kwesibindi
• Igawuthi
• Ukudumba kwesifo
• Amathumba wesibindi
• Iswekile esezantsi yegazi
• Ukukhula okumileyo okanye ukusilela ukukhula

Abantwana abanale meko bahlala bechongwa ngaphambi kweminyaka eyi-1.

Uvavanyo olunokwenziwa lunokubandakanya:

• I-Biopsy yesibindi okanye yezintso
• Uvavanyo lweswekile yegazi
• Uvavanyo lwemfuzo
• Uvavanyo lwegazi lweLactic acid
• Inqanaba leTriglyceride
• Uric acid uvavanyo lwegazi

Ukuba umntu unesi sifo, iziphumo zovavanyo ziya kubonisa iswekile esezantsi yegazi kunye namanqanaba aphezulu e-lactate (eveliswe kwi-asidi ye-lactic), amafutha egazi (lipids), kunye ne-uric acid.

Injongo yonyango kukuphepha iswekile esezantsi yegazi. Yitya rhoqo emini, ngakumbi ukutya okuneecarbohydrate (isitatshi). Abantwana abadala kunye nabantu abadala banokuthatha i-cornstarch ngomlomo ukwandisa i-carbohydrate intake.

Abanye abantwana, ityhubhu yokondla ibekwa ngeempumlo zabo esiswini ubusuku bonke ukubonelela ngeeswekile okanye isitatshi sombona esingavuthwanga. Umbhobho ungakhutshwa ntsasa nganye. Ngenye indlela, ityhubhu ye-gastrostomy (G-tube) inokubekwa ukuhambisa ukutya ngqo kwisisu ubusuku bonke.

Iyeza linokuthoba i-uric acid egazini kunye nokunciphisa umngcipheko wokuhlaselwa yintsholongwane. Umboneleli wakho unokumisela amayeza ukunyanga isifo sezintso, lipids ephezulu, kunye nokonyusa iiseli ezilwa nosulelo.

Abantu abanesifo se-von Gierke abanakusiphula ngokufanelekileyo isiqhamo okanye ubisi iswekile. Kungcono uziphephe ezi mveliso.

Umbutho weSifo seGlycogen sokuGcina- www.agsdus.org

Ngonyango, ukukhula, ukufikisa, kunye nomgangatho wobomi kuphuculwe kubantu abanesifo se-von Gierke. Abo bachongiweyo kwaye baphathwa ngononophelo besebancinci banokuhlala ebudaleni.

Unyango lwakwangoko lukwanciphisa inqanaba leengxaki ezinje ngezi:

• Igawuthi
• Ukungaphumeleli kwezintso
• Isoyikiso sobomi esongela ubomi
• Amathumba wesibindi

Ezi ngxaki zinokwenzeka:

• Rhoqo usulelo
• Igawuthi
• Ukungaphumeleli kwezintso
• Amathumba wesibindi
• I-Osteoporosis (ukunciphisa amathambo)
• Ukuxhuzula, ukonqena, ukudideka ngenxa yeswekile esezantsi yegazi
• Ukuphakama okufutshane
• Iimpawu zesondo ezingaphuhliswanga zesini (amabele, iinwele zasesidlangalaleni)
• Izilonda zomlomo okanye zesisu

Tsalela umnikezeli wakho ukuba unembali yosapho yokugcinwa kwesifo se-glycogen okanye ukusweleka kwentsana kwangoko ngenxa yeswekile esezantsi yegazi.

Akukho ndlela elula yokuthintela isifo sokugcina isifo se-glycogen.

Abantu abatshatileyo abanqwenela ukuba nosana banokufuna ingcebiso ngemfuza kunye nokuvavanywa ukumisela umngcipheko wokudlula kwisifo se-von Gierke.

Chwetheza isifo sokugcina glycogen

IBonnardeaux A, iBichet DG. Ukuphazamiseka okuzelwe njengelifa kwisifo sezintso. Ku: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, ii-eds. Brenner kunye noMphathi weZintso. Ngomhla we-10. IPhiladelphia, PA: Elsevier; 2016: isahluko 45.

IKishnani PS, u-Chen YT. Iziphene kwimetabolism ye-carbohydrate. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahl. 105.

ISantos BL, iSouza CF, iShuler-Faccini L, okqhubekayo. Uhlobo lwesifo 1 sokugcina isifo seGlycogen: iprofayile yeklinikhi kunye nelabhoratri. J IPediatra (iRio J). Ngo-2014; 90 (6): 572-579. IINKCUKACHA: 25019649 www.ncbi.nlm.nih.gov/pubmed/25019649.