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The histopathology of PRSS1 hereditary pancreatitis.

PRSS1基因相关遗传性胰腺炎的组织病理学特征

Singhi AD,Pai RK,Kant JA,Bartholow TL,Zeh HJ,Lee KK,Wijkstrom M,Yadav D,Bottino R,Brand RE,Chennat JS,Lowe ME,Papachristou GI,Slivka A,Whitcomb DC,Humar A

Abstract

Hereditary pancreatitis is an autosomal dominant disorder with 80% penetrance and variable expressivity. The vast majority of cases have been linked to mutations within the cationic trypsinogen gene, also referred to as serine protease 1 (PRSS1). Other than inheritance, PRSS1 pancreatitis has been considered clinically and pathologically indistinguishable from other etiologies of chronic pancreatitis. However, to date, the histologic findings of PRSS1 pancreatitis have not been well described. We, therefore, collected pancreatic specimens from 10 PRSS1 patients of various ages and examined their clinicopathologic features. Patients at the time of resection ranged in age from 9 to 66 years (median, 29 y), with a slight female predominance (60%). All patients reported a history of intermittent abdominal pain, with an age of onset ranging from infancy to 21 years of age. Examination of the gross and microscopic findings suggested a sequential pattern of changes with increasing patient age. In pediatric patients (n=4), although in most cases the pancreas was grossly normal, there was microscopic variation in lobular size and shape. Although the central portions of the pancreas displayed parenchymal loss accompanied by loose perilobular and interlobular fibrosis, the periphery was remarkable for replacement by mature adipose tissue. These changes were more developed in younger adults (n=2), in whom fatty replacement seemed to extend from the periphery to the central portions of the pancreas. With older patients (n=4), the pancreas showed marked atrophy and extensive replacement by mature adipose tissue with scattered islets of Langerhans and rare acinar epithelium concentrated near the main pancreatic duct. In summary, PRSS1 hereditary pancreatitis is characterized by progressive lipomatous atrophy of the pancreas.

摘要

遗传相关性胰腺炎是一种常染色体显性遗传性疾病,有80%的外显率和不同的表现度。绝大多数情况下与阳离子胰蛋白酶原基因的突变有关,同样涉及到丝氨酸蛋白酶1(PRSS1)。除了遗传学方面,PRSS1基因相关性胰腺炎一直被认为与其它原因引起的慢性胰腺炎在临床和病理学上没有任何差别。然而到目前为止,仍然没有PRSS1基因相关性胰腺炎组织学方面的描述。因此我们收集了10例不同年龄段PRSS1基因相关性胰腺炎患者的胰腺标本,对其临床病理学特征作一描述。这些患者切除胰腺时的年龄9~66岁(中位年龄29岁),女性稍占优势(60%)。所有患者从婴儿期到21岁均有间断性腹痛的病史。肉眼大体观察和显微镜下的发现,表明随着患者年龄的增加存在连续性的病理变化。对于儿童患者(n=4),尽管几乎全部患者的胰腺大体检查正常,然而显微镜下胰腺小叶大小和形状却发生了变化。胰腺中央部分的实质减少,周围小叶间质松散和小叶间纤维化,特别明显的是胰腺外周组织被成熟脂肪组织所取代。年轻的成年患者(n=2的这些变化进一步进展,甚至胰腺的中央部也被脂肪组织所取代。老年患者(n=4)胰腺显示显着的萎缩,被成熟的脂肪组织取代,主胰管周围很少见到腺泡细胞的集聚,相反可见到散在的朗格汉斯组织细胞增生形成的小岛。总之,PRSS1基因遗传相关性胰腺炎是以胰腺渐进性的脂肪瘤样萎缩为特征的。

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