Bulut Ipek Kaplan, Mutlubas Fatma, Mir Sevgi, Balkan Can
Department of Pediatric Nephrology, Ege University, Faculty of Medicine, Bornova Izmir, Turkey.
Saudi J Kidney Dis Transpl. 2012 May;23(3):569-71.
The Imersland-Gräsbeck Syndrome (IGS) is a rare inherited disorder characterized by megaloblastic anemia due to a selective Vitamin B₁₂ malabsorption in association with mild proteinuria. This syndrome can be diagnosed and treated easily. Herein, we describe an infant with IGS as a rare etiology of growth retardation with diarrhea, vomiting and therapy-resistant proteinuria.
伊默斯兰-格雷斯贝克综合征(IGS)是一种罕见的遗传性疾病,其特征为由于选择性维生素B₁₂吸收不良并伴有轻度蛋白尿而导致的巨幼细胞贫血。该综合征易于诊断和治疗。在此,我们描述一名患有IGS的婴儿,其作为生长发育迟缓的罕见病因,伴有腹泻、呕吐和难治性蛋白尿。