Rajesh G, Elango E M, Vidya V, Balakrishnan V
Department of Gastroenterology, Amrita Institute of Medical Sciences, Ponekkara, Kerala, India.
Indian J Gastroenterol. 2009 Mar-Apr;28(2):68-71. doi: 10.1007/s12664-009-0022-3. Epub 2009 Aug 21.
The etiopathogenesis of tropical chronic pancreatitis (TCP) remains unclear. Malnutrition, dietary toxins like cyanogens in cassava and micronutrient deficiency are proposed factors. The description and characterization of genetic factors in TCP has added a new dimension to the understanding of pathogenesis of the disease. However, there is sparse data on the association of TCP with cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. We report 8 patients of TCP with CFTR gene mutations, including one with a novel mutation, and describe the clinical profile of these patients. Further prospective genetic studies on the association of CFTR gene mutations are essential in order to unravel the genetic basis of TCP.
热带慢性胰腺炎(TCP)的病因发病机制尚不清楚。营养不良、木薯中的氰化物等饮食毒素以及微量营养素缺乏是推测的因素。TCP中遗传因素的描述和特征为该疾病发病机制的理解增添了新的维度。然而,关于TCP与囊性纤维化跨膜传导调节因子(CFTR)基因突变关联的数据很少。我们报告了8例携带CFTR基因突变的TCP患者,其中包括1例携带新突变的患者,并描述了这些患者的临床特征。为了阐明TCP的遗传基础,进一步对CFTR基因突变关联进行前瞻性遗传研究至关重要。