Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania
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DOI：
10.1002/ajmg.c.20002
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发表时间：
2003-08-15
影响因子：
3.1
通讯作者：
Kelley, RI
中科院分区：
文献类型：
--
作者：
Morton, DH;Morton, CS;Kelley, RI
宾夕法尼亚州兰开斯特县的特殊儿童诊所是一个社区支持的非营利儿科医疗机构，为患有遗传疾病的阿米什和门诺派儿童提供服务。在1988年至2002年的14年间，我们在阿米什人中发现了39种遗传性疾病，在门诺派教徒中发现了23种。我们强调对患有遗传病的儿童进行早期识别和长期医疗护理。在临床实验室中，我们通过高效液相色谱法（HPLC）进行氨基酸分析，通过气相色谱/质谱法（GC/MS）进行有机酸分析，并通过聚合酶链反应（PCR）扩增和测序或限制性消化进行分子诊断和载体检测。地区医院和助产士定期发送全血滤纸新生儿筛查，用于串联质谱和其他现代分析方法，以检测这些人群中发现的14种代谢紊乱，作为NeoGen Inc.补充新生儿筛查计划（宾夕法尼亚州匹兹堡）。基于疾病病理生理学的医疗护理降低了大多数疾病的发病率、死亡率和成本。在我们的患者中，相同突变的纯合子，疾病严重程度的差异并不罕见。临床问题通常是由潜在的遗传疾病与常见感染、营养不良、损伤和免疫功能障碍的相互作用引起的，这些疾病通过经典的病理生理学疾病机制影响疾病的自然史。(C)2003 Wiley-Liss，Inc.
The Clinic for Special Children in Lancaster County, Pennsylvania, is a community-supported, nonprofit pediatric medical practice for Amish and Mennonite children who have genetic disorders. Over a 14-year period, 1988-2002, we have encountered 39 heritable disorders among the Amish and 23 among the Mennonites. We emphasize early recognition and long-term medical care of children with genetic conditions. In the clinic laboratory we perform amino acid analyses by high-performance liquid chromatography (HPLC), organic acid analyses by gas chromatography/mass spectrometry (GC/MS), and molecular diagnoses and carrier tests by polymerase chain reaction (PCR) amplification and sequencing or restriction digestion. Regional hospitals and midwives routinely send whole-blood filter paper neonatal screens for tandem mass spectrometry and other modern analytical methods to detect 14 of the metabolic disorders found in these populations as part of the NeoGen Inc. Supplemental Newborn Screening Program (Pittsburgh, PA). Medical care based on disease pathophysiology reduces morbidity, mortality, and costs for the majority of disorders. Among our patients who are homozygous for the same mutation, differences in disease severity are not unusual. Clinical problems typically arise from the interaction of the underlying genetic disorder with common infections, malnutrition, injuries, and immune dysfunction that act through classical pathophysiological disease mechanisms to influence the natural history of disease. (C) 2003 Wiley-Liss, Inc.