未确诊疾病网络中的溶酶体贮积症成人患者。
Adults with lysosomal storage diseases in the undiagnosed diseases network.
机构信息
National Human Genome Research Institute, Bethesda, Maryland, USA.
Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
出版信息
Mol Genet Genomic Med. 2022 Sep;10(9):e2013. doi: 10.1002/mgg3.2013. Epub 2022 Jul 18.
OBJECTIVES
To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN).
METHODS
Retrospective review of both application and evaluation records for adults admitted to the UDN with a final diagnosis of a lysosomal storage disease.
RESULTS
Ten patients were identified. Final diagnoses included late onset Tay Sachs, attenuated MPS I, MPS IIIA, MPS IIIB, and MPS IIIC. Most patients presented with neurocognitive changes. Prior to referral, all patients had been evaluated by neurology, four patients underwent phenotype specific panel testing that did not include the causative gene, and four patients had non-diagnostic clinical exome sequencing.
CONCLUSIONS
LSDs figure highly in the differential diagnosis of neurometabolic disorders in pediatric onset progressive diseases. In adults, their subtle initial presentations overlap with symptoms of more common disorders and less practitioner awareness may lead to prolonged diagnostic challenges.
目的
通过未确诊疾病网络（UDN）回顾诊断为溶酶体贮积症（LSD）的成年患者的转诊和临床特征。
方法
对通过 UDN 收治的最终诊断为溶酶体贮积症的成年患者的申请和评估记录进行回顾性分析。
结果
共鉴定出 10 名患者。最终诊断包括晚发性泰萨二氏症、MPS I 衰减型、MPS IIIA、MPS IIIB 和 MPS IIIC。大多数患者表现为神经认知改变。在转诊之前，所有患者均经神经病学评估，4 名患者进行了不包括致病基因的表型特异性小组测试，4 名患者进行了无诊断意义的临床外显子组测序。
结论
在儿科起病进行性疾病的神经代谢紊乱鉴别诊断中，溶酶体贮积症的发病率很高。在成人中，其初始表现较为隐匿，与更常见疾病的症状重叠，且医生的认识度较低，可能导致诊断挑战延长。
Zotero 插件