Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
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DOI：
10.1016/s0022-3476(99)70332-x
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发表时间：
1999-07-01
影响因子：
5.1
通讯作者：
Durie, PR
中科院分区：
文献类型：
--
作者：
Ginzberg, H;Shin, J;Durie, PR
目的：通过使用来自大型国际队列的临床数据，我们评估和比较受影响的兄弟姐妹和孤立病例。研究设计：收集了 116 个家庭的数据，并对符合我们预定诊断标准的患者进行了分析。使用oft检验、Wilcoxon评分和chi(2)分析对受影响的兄弟姐妹和单身人士的表型表现进行比较。结果：88名患者（33名女性，55名男性；中位年龄5.20岁）符合我们预定的Shwachman综合征诊断标准； 63名患者为孤立病例，25名受影响的兄弟姐妹来自12个多重家庭。 86%（66 人中的 57 人）存在脂肪泻，91%（86 人中的 78 人）表现出血清胰蛋白酶原浓度较低。 4 岁以上的患者通常胰腺功能充足。 98% 发生中性粒细胞减少，42% 发生贫血，34% 发生血小板减少。 7 名患者报告有骨髓增生异常或细胞遗传学异常。营养状况正常的身材矮小是一个显着特征。结论：Shwachman 综合征患者的临床特征因患者和年龄而异。孤立病例和受影响的兄弟姐妹之间表型的相似性支持了 Shwachman 综合征是单一疾病实体的假设。
Objectives: With the use of clinical data from a large international cohort, we evaluated and compared affected siblings and isolated cases.Study design: Data from 116 families were collected, and patients conforming to our predetermined diagnostic criteria were analyzed. Phenotypic manifestations of affected siblings and singletons were compared with the use oft tests, Wilcoxon scores, and chi(2) analysis.Results: Eighty-eight patients (33 female, 55 male; median age 5.20 years) fulfilled our predetermined diagnostic criteria for Shwachman syndrome; 63 patients were isolated cases, and 25 affected siblings were from 12 multiplex families. Steatorrhea was present in 86% (57 of 66), and 91% (78 of 86) displayed a low serum trypsinogen concentration. Patients older than 4 years more often had pancreatic sufficiency. Neutropenia occurred in 98%, anemia in 42%, and thrombocytopenia in 34%. Myelodysplasia or cytogenetic abnormalities were reported in 7 patients. Short stature with normal nutritional status was a prominent feature.Conclusions: Clinical features among patients with Shwachman syndrome varied between patients and with age. Similarities in phenotype between isolated cases and affected sibling sets support the hypothesis that Shwachman syndrome is a single disease entity.