伊默斯朗-格拉斯贝克综合征：病例报告综合综述。
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
机构信息
Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, Antwerp, 2650, Belgium.
Department of Pediatrics, University Hospital Antwerp, University of Antwerp, Drie Eikenstraat 655, Edegem, 2650, Belgium.
出版信息
Orphanet J Rare Dis. 2023 Sep 14;18(1):291. doi: 10.1186/s13023-023-02889-x.
Abstract
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients.
摘要
艾姆斯勒-格鲁斯贝克综合征（IGS）是一种罕见的常染色体隐性疾病，其特征是维生素 B12 吸收不良。大多数患者表现为非特异性症状，归因于维生素 B12 缺乏症和蛋白尿。如果不治疗，患者可能会出现严重的神经认知表现。如果及时识别并给予足够剂量的维生素 B12 治疗，患者可完全康复。我们首次全面回顾了所有以前报道的 IGS 病例。此外，我们还对 IGS 进行了全面回顾，并描述了两名新患者。
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