Department of Gastroenterology, All India Institute of Medical Sciences, New Delhi, India.
J Clin Gastroenterol. 2009 Oct;43(9):848-52. doi: 10.1097/MCG.0b013e3181a4e772.
Pancreas divisum has been associated with idiopathic pancreatitis. However, the causal association remains controversial.
To study the gene mutations in patients with pancreas divisum presenting with idiopathic pancreatitis.
All consecutive patients with pancreas divisum presenting with recurrent pancreatitis were included in the study. Fifty healthy volunteers, 30 patients with chronic pancreatitis, and 14 patients with idiopathic recurrent acute pancreatitis without pancreas divisum served as controls. Patients and controls were tested for cationic trypsiongen gene, CFTR gene and SPINK1 gene mutations.
Of the 12 patients with pancreas divisum and idiopathic pancreatitis, 4 had SPINK1 N34S gene mutation-3 were heterozygous and 1 was homozygous, and 1 had P55S mutation compared with 1 of 50 healthy controls with N34S mutation (P=0.001). The frequency of SPINK1 mutation was similar among patients with pancreas divisum and pancreatitis (41.6%), chronic pancreatitis (43.3%), and recurrent acute pancreatitis without pancreas divisum (35.7%). Five patients with pancreas divisum had polymorphisms in the CFTR gene.
Patients with pancreas divisum presenting with idiopathic pancreatitis had a higher frequency of SPINK1 gene mutation compared with healthy controls, which might be responsible as the sole-factor or a co-factor in causing pancreatitis in them.
胰胆管合流异常与特发性胰腺炎有关。然而，其因果关系仍存在争议。
研究胰胆管合流异常伴特发性胰腺炎患者的基因突变情况。
本研究纳入了所有连续出现复发性胰腺炎且伴有胰胆管合流异常的患者。50 名健康志愿者、30 名慢性胰腺炎患者和 14 名伴有胰胆管合流异常的特发性复发性急性胰腺炎患者作为对照组。对患者和对照组进行阳离子胰蛋白酶原基因、CFTR 基因和 SPINK1 基因突变检测。
在 12 例伴有胰胆管合流异常和特发性胰腺炎的患者中，有 4 例存在 SPINK1 N34S 基因突变-3 例为杂合子，1 例为纯合子，1 例存在 P55S 突变，而 50 名健康对照组中仅有 1 例存在 N34S 突变（P=0.001）。胰胆管合流异常伴胰腺炎（41.6%）、慢性胰腺炎（43.3%）和无胰胆管合流异常的复发性急性胰腺炎（35.7%）患者中 SPINK1 突变的频率相似。5 例胰胆管合流异常患者存在 CFTR 基因突变。
与健康对照组相比，伴有胰胆管合流异常的特发性胰腺炎患者 SPINK1 基因突变的频率更高，这可能是导致其胰腺炎的单一因素或共同因素。
