Unit of Cystic Fibrosis, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Pancreas. 2011 May;40(4):517-21. doi: 10.1097/MPA.0b013e318214fe42.
To assess specific etiologies of acute recurrent pancreatitis at a single Italian pediatric cystic fibrosis (CF) center.
We studied, retrospectively, 78 young patients (39 female subjects; mean age at diagnosis, 8.8 ± 5.1 years) affected by acute recurrent episodes of pancreatitis, remained etiologically undiagnosed at first-level assessment. All patients were submitted to endoscopic retrograde cholangiopancreatography to exclude biliopancreatic malformations and tested for CF by a sweat chloride test. Most patients also were studied for the research of CFTR, PRSS1, and SPINK1 gene mutations.
A high percentage of family history for chronic pancreatitis was observed (20.5%). The sweat test identified 8 subjects (10.3%) with classic CF (2 patients) or at risk for CF (6 patients). Genetic analysis showed mutations in CFTR, SPINK1, and PRSS1 genes in 39.6%, 7.1%, and 4.5% of patients, respectively. A biliopancreatic malformation was diagnosed in 15 patients (19.2%). We also observed biliary lithiasis (5 patients [6.5%]), congenital pancreatic polycystosis (2 patients), a case of dyslipidemia, and 1 patient with a posttransplantation, drug-induced pancreatitis.
Recurrent pancreatitis in children has several etiologies. Genetic testing confirms the high frequency of CFTR mutations. This suggests that it is of some value to identify patients with late-onset CF and CFTR-related disorders.
在意大利的一家小儿囊性纤维化 (CF) 中心评估急性复发性胰腺炎的特定病因。
我们回顾性研究了 78 名患有急性复发性胰腺炎的年轻患者（39 名女性患者；诊断时的平均年龄为 8.8 ± 5.1 岁），这些患者在初次评估时仍未明确病因。所有患者均接受了内镜逆行胰胆管造影术以排除胆胰畸形，并进行汗液氯试验以检测 CF。大多数患者还接受了 CFTR、PRSS1 和 SPINK1 基因突变的研究。
观察到较高比例的慢性胰腺炎家族史（20.5%）。汗液测试鉴定出 8 名（10.3%）患者患有经典 CF（2 名患者）或 CF 风险（6 名患者）。基因分析显示 CFTR、SPINK1 和 PRSS1 基因分别在 39.6%、7.1%和 4.5%的患者中发生突变。15 名患者（19.2%）被诊断为胆胰畸形。我们还观察到 5 名患者（6.5%）存在胆石症、2 名患者存在先天性胰腺多囊症、1 例血脂异常和 1 例移植后药物诱导性胰腺炎。
儿童复发性胰腺炎有多种病因。基因检测证实 CFTR 突变的频率较高。这表明，识别迟发性 CF 和 CFTR 相关疾病患者具有一定价值。
