先天性葡萄糖-半乳糖吸收不良症1例临床及基因分析
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摘要
目的分析1例先天性葡萄糖-半乳糖吸收不良症患儿的临床和SLC5A1基因突变特点。方法收集2016年11月诊治的1例先天性葡萄糖-半乳糖吸收不良症患儿的临床资料,应用家系单基因病全外显子组测序分析方法进行SLC5A1基因突变检测。结果男性患儿,生后第3天开始出现腹泻,黄色稀水样便,伴发热,无寒战;多次电解质检查提示血钠明显升高,最高162 mmol/L。全基因外显子检查发现SLC5A1基因2个与葡萄糖-半乳糖吸收不良症(OMIM:606824)相关性较高的变异,c. 406(外显子5) delT、c. 92 T>A(外显子1),患儿父母亲表型均正常,母亲c. 92 T>A杂合。行葡萄糖、果糖激发试验,提示糖吸收不良,确诊葡萄糖-半乳糖吸收不良症。10月龄予去碳水化合物液态奶及果糖喂养,半天后患儿大便即转成形便,随访情况良好。结论先天性葡萄糖-半乳糖吸收不良症是临床罕见的常染色体隐性遗传性疾病,出生早期出现持续水样腹泻,基因分析可明确诊断。早期诊断及去碳水化合物液态奶及果糖喂养对预后至关重要。
Objective To analyze the clinical features and SLC5 A1 gene mutation of congenital glucose-galactose malabsorption(CGGM) in a child. Method The clinical data of a child with CGGM diagnosed and treated in November 2016 were collected. The mutation of SLC5 A1 gene was detected by exome sequencing of single gene disease(family). Results The boy began to have diarrhea on the third day after birth, stools being yellow watery, having fever but no chills. Multiple electrolyte tests showed a significant increase in blood sodium with the highest value at 162 mmol/L. Two variants of SLC5 A1 gene, c.406(exon 5) delT and c.92 T>A(exon 1), were found to be highly correlated with glucose-galactose malabsorption disorder(OMIM:606824) by whole-gene exon examination. Parents of the boy had normal phenotype and his mother had heterozygous C. 92 T> A. The results of glucose and fructose provocation tests suggested that the boy had sugar malabsorption and the diagnosis of glucose-galactose malabsorption was confirmed. Therefore, the children were fed with carbohydrate free liquid milk and fructose.In half a day, the child's stool turns into solid. And the child was discharged at the age of 10 months and the condition of the patient was good at follow-up. Conclusion CGGM is a rare autosomal recessive hereditary disease. Persistent watery diarrhea occurs soon after birth. Gene analysis can confirm the diagnosis. Early diagnosis and carbohydrate free liquid milk and fructose feeding are important for prognosis.
Objective To analyze the clinical features and SLC5 A1 gene mutation of congenital glucose-galactose malabsorption(CGGM) in a child. Method The clinical data of a child with CGGM diagnosed and treated in November 2016 were collected. The mutation of SLC5 A1 gene was detected by exome sequencing of single gene disease(family). Results The boy began to have diarrhea on the third day after birth, stools being yellow watery, having fever but no chills. Multiple electrolyte tests showed a significant increase in blood sodium with the highest value at 162 mmol/L. Two variants of SLC5 A1 gene, c.406(exon 5) delT and c.92 T>A(exon 1), were found to be highly correlated with glucose-galactose malabsorption disorder(OMIM:606824) by whole-gene exon examination. Parents of the boy had normal phenotype and his mother had heterozygous C. 92 T> A. The results of glucose and fructose provocation tests suggested that the boy had sugar malabsorption and the diagnosis of glucose-galactose malabsorption was confirmed. Therefore, the children were fed with carbohydrate free liquid milk and fructose.In half a day, the child's stool turns into solid. And the child was discharged at the age of 10 months and the condition of the patient was good at follow-up. Conclusion CGGM is a rare autosomal recessive hereditary disease. Persistent watery diarrhea occurs soon after birth. Gene analysis can confirm the diagnosis. Early diagnosis and carbohydrate free liquid milk and fructose feeding are important for prognosis.
引文
[1]Vallaeys L,Van Biervliet S,De Bruyn G,et al.Congenital glucose-galactose malabsorption:a novel deletion within the SLC5A1 gene[J].Eur J Pediatr,2013,172(3):409-11.
[2]Wright EM,Loo DD,Hirayama BA.Biology of human sodium glucose transporters[J].Physiol Rev,2011,91(2):733-794.
[3]Lindquist B,Meeuwisse GW.Chronic diarrhoea caused by monosaccharide malabsorption[J].Acta Paediatr Scand,1962,51:674-685.
[4]Laplane R,Polonovsksi C,Etienne M,et al.L'intolerance aux sucres a transfert intestinal actif:ses rapports avec l'intolerance au lactosc et le syndrome coeliaque[J].Arch Fr Pediatr,1962,19:895-944.
[5]Pode-Shakked B,Reish O,Aktuglu-Zeybek C,et al.Bitterness of glucose/galactose:novel mutations in the SLC5A1 gene[J].J Pediatr Gastroenterol Nutr,2014,58(1):57-60.
[6]Kianifar HR,Talebi S,Talebi S,et al.D28G mutation in congenital glucose-galactose malabsorption[J].Arch Iran Med,2007,10(4):514-518.
[7]Wright EM,Turk E.The sodium/glucose cotransport family SLC5[J].Pflugers Arch,2004,447(5):510-518.
[8]Turk E,Zabel B,Mundlos S,et al.Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter[J].Nature,1991,28,350(6316):354-356.
[9]Lee WS,Tay CG,Nazrul N,et al.A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption[J].Med J Malaysia,2009,64(1):83-85.
[10]Saadah OI,Alghamdi SA,Sindi HH,et al.Conginital glucose-galactose malabsorption:a descriptive study of clinical characteristics and outcome frome Western Saudi Arabia[J].Arab J Gastroenterol,2014,15(1):21-23.
[11]Al-Lawati T,Vargees T.Glucose galactose malabsorption complicated with rickets and nephrogenic diabetes insipidus[J].Oman Med J,2008,23(3):197-198.
[2]Wright EM,Loo DD,Hirayama BA.Biology of human sodium glucose transporters[J].Physiol Rev,2011,91(2):733-794.
[3]Lindquist B,Meeuwisse GW.Chronic diarrhoea caused by monosaccharide malabsorption[J].Acta Paediatr Scand,1962,51:674-685.
[4]Laplane R,Polonovsksi C,Etienne M,et al.L'intolerance aux sucres a transfert intestinal actif:ses rapports avec l'intolerance au lactosc et le syndrome coeliaque[J].Arch Fr Pediatr,1962,19:895-944.
[5]Pode-Shakked B,Reish O,Aktuglu-Zeybek C,et al.Bitterness of glucose/galactose:novel mutations in the SLC5A1 gene[J].J Pediatr Gastroenterol Nutr,2014,58(1):57-60.
[6]Kianifar HR,Talebi S,Talebi S,et al.D28G mutation in congenital glucose-galactose malabsorption[J].Arch Iran Med,2007,10(4):514-518.
[7]Wright EM,Turk E.The sodium/glucose cotransport family SLC5[J].Pflugers Arch,2004,447(5):510-518.
[8]Turk E,Zabel B,Mundlos S,et al.Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter[J].Nature,1991,28,350(6316):354-356.
[9]Lee WS,Tay CG,Nazrul N,et al.A case of neonatal diarrhoea caused by congenital glucose-galactose malabsorption[J].Med J Malaysia,2009,64(1):83-85.
[10]Saadah OI,Alghamdi SA,Sindi HH,et al.Conginital glucose-galactose malabsorption:a descriptive study of clinical characteristics and outcome frome Western Saudi Arabia[J].Arab J Gastroenterol,2014,15(1):21-23.
[11]Al-Lawati T,Vargees T.Glucose galactose malabsorption complicated with rickets and nephrogenic diabetes insipidus[J].Oman Med J,2008,23(3):197-198.