Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome
复制标题
DOI：
10.1067/mpd.2002.125849
复制
发表时间：
2002-08-01
影响因子：
5.1
通讯作者：
Durie, PR
中科院分区：
文献类型：
--
作者：
Ip, WF;Dupuis, A;Durie, PR
目的：评估血清酶在定义 Shwachman-Diamond 综合征 (SDS)（一种遗传性多系统疾病）胰腺表型中的作用。研究设计：测量了 164 名已知或推测患有 SDS 的患者的血清胰腺胰蛋白酶原和异淀粉酶。 90 名患者确诊。在 74 例未经确诊的病例中，35 例（“可能的 SDS”）患有血液功能障碍，但缺乏胰腺功能障碍的记录，而 39 例患者（“不可能的 SDS”）缺乏胰腺功能障碍和血液功能障碍的记录。对90名SDS患者和134名对照患者进行分类和回归树（CART）分析，建立定义SDS胰腺表型的规则；结果：在对照患者中，血清胰蛋白酶原随年龄变化不大，而血清异淀粉酶值从出生起就开始上升，3岁时达到成人值。对于SDS患者，年轻患者的血清胰蛋白酶原值较低，并随着年龄的增长而升高，而血清异淀粉酶值在所有年龄段均保持较低水平。 CART 规则结合了两种酶的结果，并对除一名 SDS 患者之外的所有患者的胰腺表型进行了分类。
Objective: To evaluate the role of serum enzymes for defining the pancreatic phenotype in Shwachman-Diamond syndrome (SDS), an inherited multisystem condition.Study design: Serum pancreatic trypsinogen and isoamylase were measured in 164 patients known or presumed to have SDS. The diagnosis was confirmed in 90 patients. Among 74 unconfirmed cases, 35 ("probable SDS") had hematologic dysfunction but lacked documented pancreatic dysfunction, whereas 39 patients ("improbable SDS") lacked both documented pancreatic and hematologic dysfunction. Classification and regression tree (CART) analysis was performed m 90 patients with SDS and 134 control patients to establish a rule for defining the pancreatic phenotype of SDS; the rule was then applied to the patients with unconfirmed diagnosis.Results: In the control patients, serum trypsmiogen showed little variation with age, whereas serum isoamylase values rose from birth on, attaining adult values by 3 years. For patients with SDS, serum trypsinogen values were low in young patients and tended to increase with age, whereas serum isoamylase values remained low at all ages. The CART rule combined results from both enzymes and classified the pancreatic phenotype in all but one SDS patient, who was