Galactosemia

Galactosemia wani yanayi ne wanda jiki ba zai iya amfani da shi ba (maye gurbin) galactose mai sauƙin suga.

Galactosemia cuta ce ta gado. Wannan yana nufin an wuce ta cikin iyalai. Idan iyaye biyu suna ɗauke da kwafin kwayar halitta da ba ya aiki wanda zai iya haifar da galactosemia, ɗayan yaransu na da damar 25% (1 cikin 4) na cutar da su.

Akwai nau'ikan 3 na cutar:

• Galactose-1 phosphate uridyl transferase (GALT) rashi: Galactosemia na yau da kullun, mafi yawan yanayi kuma mafi tsanani
• Dearancin galactose kinase (GALK)
• Dearancin galactose-6-phosphate epimerase (GALE)

Mutanen da ke da galactosemia ba za su iya lalata cikakken galactose na sukari ba. Galactose yana yin rabin lactose, sukarin da ake samu a madara.

Idan an ba jariri da galactosemia madara, abubuwan da aka yi daga galactose suna ginawa a cikin tsarin jarirai. Wadannan abubuwa suna lalata hanta, kwakwalwa, koda, da idanu.

Mutanen da ke da galactosemia ba za su iya jure wa kowane nau'i na madara ba (mutum ko dabba). Dole ne su yi hankali game da cin sauran abincin da ke dauke da galactose.

Yaran da ke da galactosemia na iya nuna alamun a cikin ofan kwanakin farko na rayuwarsu idan suka ci abinci ko madara nono wanda ya ƙunshi lactose. Alamomin na iya kasancewa saboda mummunan kamuwa da jini da kwayoyin cuta E coli.

Kwayar cutar galactosemia sune:

• Vunƙwasawa
• Rashin fushi
• Rashin nutsuwa
• Rashin ciyarwa - jariri ya ƙi cin abinci wanda ke ɗauke da madara
• Rashin nauyin nauyi
• Fata mai launin rawaya da fararen idanu (jaundice)
• Amai

Gwaje-gwajen don bincika galactosemia sun haɗa da:

• Al'adun jini don kamuwa da ƙwayoyin cuta (E coli sepsis)
• Ayyukan enzyme a cikin jajayen ƙwayoyin jini
• Ketones a cikin fitsari
• Ganowar ciki ta hanyar auna madaidaicin enzyme galactose-1-phosphate uridyl transferase
• "Rage abubuwa" a cikin fitsarin jariri, da kuma al'ada ko ƙaramar sikarin jini yayin da ake shayar da jaririn nono ko kuma wani tsari wanda ya ƙunshi lactose

Gwajin gwajin haihuwa da aka yi a jihohi da yawa suna bincika galactosemia.

Sakamakon gwaji na iya nuna:

• Amino acid a cikin fitsari ko jinin jini
• Liverara hanta
• Ruwa a cikin ciki
• Sugararancin sukarin jini

Mutanen da ke cikin wannan yanayin dole ne su guji duk madara, kayayyakin da ke ɗauke da madara (gami da busasshiyar madara), da sauran abinci masu ɗauke da galactose, har tsawon rayuwa. Karanta alamomin samfura don tabbatar kai ko yaronka da ke cikin yanayin ba ku cin abincin da ke ɗauke da galactose.

Za a iya ciyar da jarirai:

• Tsarin waken soya
• Wani tsari wanda ba shi da lactose
• Tsarin nama ko Nutramigen (furotin hydrolyzate dabara)

Ana ba da shawarar karin ƙwayoyin calcium.

Gidauniyar Galactosemia - www.galactosemia.org

Mutanen da aka bincikar lafiya da wuri kuma suka guji samfuran madara na iya rayuwa daidai da ta yau da kullun. Koyaya, rashin lahani na hankali na iya bunkasa, koda a cikin mutanen da ke guje wa galactose.

Wadannan rikitarwa na iya bunkasa:

• Ciwon ido
• Ciwan hanta
• Ci gaban magana
• Halin al'ada na al'ada, rage aikin ovaries wanda ke haifar da gazawar ovarian da rashin haihuwa
• Rashin hankali
• Mai tsananin kamuwa da kwayoyin cuta (E coli sepsis)
• Girgizar ƙasa (girgiza) da ayyukan motar da ba za a iya sarrafawa ba
• Mutuwa (idan akwai galactose a cikin abincin)

Kira mai ba da sabis na kiwon lafiya idan:

• Yaranku suna da alamun galactosemia
• Kuna da tarihin iyali na galactosemia kuma kuna la'akari da samun yara

Yana da amfani sanin tarihin iyalinka. Idan kuna da tarihin iyali na galactosemia kuma kuna son samun yara, shawara kan kwayar halitta za ta taimaka muku yanke shawara game da ciki da gwajin haihuwa. Da zarar an gano asalin cutar ta galactosemia, ana ba da shawarar shawarwarin kwayoyin halitta ga sauran 'yan uwa.

Jihohi da yawa suna yin gwajin dukkan jarirai don galactosemia. Idan gwajin sabon haihuwa ya nuna yiwuwar galactosemia, ya kamata su daina baiwa jariransu kayayyakin madara yanzun nan kuma su tambayi mai samar dasu game da gwajin jinin da za'a yi don tabbatar da cutar ta galactosemia.

Galactose-1-phosphate karancin transferase uridyl; Rashin galactokinase; Galactose-6-phosphate karancin epimerase; GALT; GASKIYA; GALE; Galactosemia rashi na Epimerase; Rashin GALE; Galactosemia nau'in III; UDP-galactose-4; Bambancin Duarte

• Galactosemia

Berry GT. Galatosemia na gargajiya da bambancin galactosemia na asibiti. 2000 Feb 4 [Updated 2017 Mar 9]. A cikin: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Intanet]. Seattle (WA): Jami'ar Washington, Seattle; 1993-2019. PMID: 20301691 www.ncbi.nlm.nih.gov/pubmed/20301691.

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.

Broomfield A, Brain C, Grunewald S. Galactosaemia: ganewar asali, gudanarwa da sakamako na dogon lokaci. Ilimin yara da lafiyar yara. 2015: 25 (3); 113-118. www.paediatricsandchildhealthjournal.co.uk/article/S1751-7222(14)00279-0/pdf.

Gibson KM, Lu'u-lu'u PL. Kuskuren da aka haifa na metabolism da tsarin juyayi. A cikin: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL. Bradley's Neurology a cikin Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016: babi na 91.

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.

Maitra A. Cututtukan yara da yara. A cikin: Kumar V, Abbas AK, Aster JC, eds. Robbins da Cotran Pathologic Tushen Cutar. 9th ed. Philadelphia, PA: Elsevier Saunders; 2015: babi na 10.