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首页> 外文期刊>Diabetes care >Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations.
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Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations.

机译：因CEL突变而导致内分泌和外分泌胰腺功能异常的患者的神经功能和酶治疗。

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OBJECTIVE: To further define clinical features associated with the syndrome of diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl-ester lipase (CEL) gene and to assess the effects of pancreatic enzyme substitution therapy. RESEARCH DESIGN AND METHODS: Nine patients with CEL gene mutation, exocrine deficiency, and diabetes were treated and followed for 30 months. RESULTS: Treatment improved symptoms in seven of nine patients. Exocrine and endocrine function assessed by fecal elastase and A1C were not affected, although fecal lipid excretion was reduced. Vitamin E was low in all patients but increased with treatment (P < 0.001 at 30 months) and improved in five subjects. A predominantly demyelinating neuropathy was seen in a majority of patients, and carpal tunnel syndrome was common. CONCLUSIONS: Pancreatic enzyme substitution alleviated symptoms and malabsorption and normalized vitamin E levels. Glycemic control was not significantly affected. The CEL syndrome seems associated with a demyelinating neuropathology.
机译：目的：进一步确定与糖尿病综合征相关的临床特征和由于羧基酯脂肪酶（CEL）基因突变引起的胰腺外分泌功能障碍，并评估胰腺酶替代疗法的效果。研究设计和方法：对9例CEL基因突变，外分泌不足和糖尿病患者进行了治疗，并进行了30个月的随访。结果：治疗改善了九名患者中七名的症状。尽管粪便脂质排泄减少了，但通过粪便弹性蛋白酶和A1C评估的外分泌和内分泌功能并未受到影响。所有患者的维生素E均较低，但随治疗而增加（30个月时P <0.001），五名受试者的维生素E有所改善。大多数患者主要发生脱髓鞘性神经病变，腕管综合症很常见。结论：胰酶替代可以减轻症状，吸收不良和维生素E水平正常化。血糖控制未受到明显影响。 CEL综合征似乎与脱髓鞘性神经病理学有关。

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