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蔗糖酶-异麦芽糖酶缺乏症。一份随访报告。

Sucrase-isomaltase deficiency. A follow-up report.

作者信息

Kilby A, Burgess E A, Wigglesworth S, Walker-Smith J A

出版信息

Arch Dis Child. 1978 Aug;53(8):677-9. doi: 10.1136/adc.53.8.677.

DOI:10.1136/adc.53.8.677
PMID:708108
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1545065/
Abstract

Nine children with sucrase-isomaltase deficiency were assessed up to 10 years after diagnosis. All children continued to have episodes of diarrhoea associated with sucrose ingestion. Sucrose tolerance tests showed that malabsorption of sucrose persists into adolescence. Three older patients were unaware of their condition and were eating normal diets with unrestricted amounts of sucrose. They complained of gastrointestinal symptoms which improved after sucrose restriction.

摘要

9名蔗糖酶-异麦芽糖酶缺乏症患儿在确诊后长达10年的时间里接受了评估。所有患儿摄入蔗糖后仍会出现腹泻症状。蔗糖耐量试验表明,蔗糖吸收不良一直持续到青春期。3名年龄较大的患者未意识到自己的病情,食用含蔗糖量不受限制的正常饮食。他们诉说有胃肠道症状,在限制蔗糖摄入后症状有所改善。

相似文献

1
Sucrase-isomaltase deficiency. A follow-up report.蔗糖酶-异麦芽糖酶缺乏症。一份随访报告。
Arch Dis Child. 1978 Aug;53(8):677-9. doi: 10.1136/adc.53.8.677.
2
[Congenital sucrase-isomaltase deficiency: a rare cause of chronic or recurrent diarrhea in children].先天性蔗糖酶-异麦芽糖酶缺乏症:儿童慢性或复发性腹泻的罕见病因
Rev Med Suisse Romande. 1980 May;100(5):441-2.
3
Sucrose tolerance test in children with diarrhoea.腹泻儿童的蔗糖耐量试验。
Paediatr Indones. 1982 Jul-Aug;22(7-8):126-31.
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Breath hydrogen test and sucrase isomaltase deficiency.呼气氢试验与蔗糖酶异麦芽糖酶缺乏症
Arch Dis Child. 1983 Aug;58(8):595-7. doi: 10.1136/adc.58.8.595.
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Primary sucrase-isomaltase deficiency: importance of clinical judgment.原发性蔗糖酶-异麦芽糖酶缺乏症:临床判断的重要性。
Lancet. 1985 Jul 20;2(8447):164-5. doi: 10.1016/s0140-6736(85)90279-x.
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[Peripheral gangrene in a congenital sucrase isomaltase deficiency (author's transl)].先天性蔗糖酶异麦芽糖酶缺乏症中的周围性坏疽(作者译)
An Esp Pediatr. 1980 Aug;13(8):720-5.
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Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency.先天性蔗糖酶-异麦芽糖酶缺乏症采用酿酒酵母进行酶替代治疗。
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Maltase-glucoamylase and residual isomaltase in sucrose intolerant patients.蔗糖不耐受患者中的麦芽糖酶-葡萄糖淀粉酶和残余异麦芽糖酶
J Pediatr Gastroenterol Nutr. 1986 May-Jun;5(3):365-71. doi: 10.1097/00005176-198605000-00005.
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Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy.先天性蔗糖酶-异麦芽糖酶缺乏症:诊断挑战及对酶替代疗法的反应
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Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme.人类蔗糖酶-异麦芽糖酶缺乏症。不同的突变会破坏一种肠刷状缘酶的细胞内运输、加工和功能。
J Clin Invest. 1988 Aug;82(2):667-79. doi: 10.1172/JCI113646.

引用本文的文献

1
Routine disaccharidase testing: are we there yet?常规二糖酶检测:我们做到了吗?
Curr Opin Gastroenterol. 2020 Mar;36(2):101-109. doi: 10.1097/MOG.0000000000000614.

本文引用的文献

1
HEREDITARY SUCROSE INTOLERANCE: LEVELS OF SUCRASE ACTIVITY IN JEJUNAL MUCOSA.遗传性蔗糖不耐受:空肠黏膜中蔗糖酶活性水平
Arch Dis Child. 1964 Oct;39(207):431-43. doi: 10.1136/adc.39.207.431.
2
Isomaltose intolerance causing decreased ability to utilize dietary starch.
J Pediatr. 1963 Feb;62:165-76. doi: 10.1016/s0022-3476(63)80388-1.
3
Diarrhoea caused by deficiency of sugar-splitting enzymes.由分解糖的酶缺乏引起的腹泻。
Lancet. 1960 Aug 6;2(7145):296-7. doi: 10.1016/s0140-6736(60)91381-7.
4
Congenital sucrase-isomaltase deficiency. Observations over a period of 6 years.先天性蔗糖酶-异麦芽糖酶缺乏症。6年观察期。
Pediatrics. 1972 Jun;49(6):847-53.
5
Sucrase-isomaltase deficiency-a frequently misdiagnosed disease.蔗糖酶-异麦芽糖酶缺乏症——一种常被误诊的疾病。
J Pediatr. 1973 Nov;83(5):721-7. doi: 10.1016/s0022-3476(73)80362-2.