From the *Department of Clinical Medicine, University of Bergen; Departments of †Pediatrics, ‡Radiology, §Medicine, and ∥Voss Hospital, Haukeland University Hospital; ¶Section for Pathology, The Gade Institute, University of Bergen; #Department of Pathology, Haukeland University Hospital; and **Section for Radiology, Department of Surgical Sciences, University of Bergen, Bergen, Norway.
Pancreas. 2013 Oct;42(7):1078-84. doi: 10.1097/MPA.0b013e3182920e9c.
The impact of pancreatic dysfunction in several diseases of the pancreas, including chronic pancreatitis and cystic fibrosis, is obscured by concomitant extra-pancreatic disease. Carboxyl-ester lipase-maturity-onset diabetes in the young (CEL-MODY) is a monogenic, highly penetrant and progressive pancreatic disease with no known primary extrapancreatic manifestations. It is characterized by low fecal elastase, steatorrhea, and development of diabetes mellitus. We sought to determine the nature of the exocrine dysfunction in CEL-MODY and relate the findings to clinical parameters of malnutrition.
We examined CEL-MODY patients and control subjects by rapid, endoscopic secretin test and dynamic magnetic resonance imaging of the pancreas. The findings were related to the subjects' clinical status.
The CEL-MODY patients displayed severely reduced acinar function and moderately reduced ductal function of the pancreas compared with control subjects. Surprisingly, CEL-MODY patients did not have clinical or biochemical signs of malnutrition, except for subnormal levels of vitamin E. Vitamin E levels seemed to be directly related to pancreatic acinar function.
Pancreatic exocrine dysfunction in CEL-MODY is associated with severely reduced acinar and moderately reduced ductal dysfunction. Despite severely reduced exocrine pancreatic function, CEL-MODY patients revealed only minor signs of malnutrition.
在几种胰腺疾病中，包括慢性胰腺炎和囊性纤维化，胰腺功能障碍的影响被伴发的胰外疾病所掩盖。羧基酯脂肪酶-青年发病的成年型糖尿病（CEL-MODY）是一种单基因、高外显率和进行性的胰腺疾病，没有已知的原发性胰外表现。其特征为粪便弹性蛋白酶低、脂肪泻和糖尿病的发生。我们试图确定 CEL-MODY 中外分泌功能障碍的性质，并将这些发现与营养不良的临床参数联系起来。
我们通过快速、内镜促胰液素试验和胰腺动态磁共振成像检查 CEL-MODY 患者和对照受试者。将检查结果与受试者的临床状况联系起来。
与对照受试者相比，CEL-MODY 患者的胰腺腺泡功能严重降低，导管功能中度降低。令人惊讶的是，CEL-MODY 患者除了维生素 E 水平低于正常值外，没有营养不良的临床或生化迹象。维生素 E 水平似乎与胰腺腺泡功能直接相关。
CEL-MODY 中的胰腺外分泌功能障碍与严重降低的腺泡和中度降低的导管功能有关。尽管胰腺外分泌功能严重降低，但 CEL-MODY 患者仅表现出轻微的营养不良迹象。
