Murgia G, Firinu D, Meleddu R, Lorrai M M, Manconi P E, Del Giacco S R
Unit of Internal Medicine, Allergy and Clinical Immunology, Department of Medical Sciences "M. Aresu", University of Cagliari, Italy
Unit of Internal Medicine, Allergy and Clinical Immunology, Department of Medical Sciences "M. Aresu", University of Cagliari, Italy.
Lupus. 2015 Oct;24(12):1332-4. doi: 10.1177/0961203315585818. Epub 2015 May 11.
Niemann-Pick disease is an inherited lipid storage disorder caused by the deficiency of acid sphingomyelinase, which results in accumulation of sphingomyelin within cells of several organs and consequent tissue damage. The broad clinical spectrum of this disorder may overlap with that of systemic lupus erythematosus, hindering differential diagnosis. Herein, we report the case of a patient affected by Niemann-Pick type B disease intertwined with clinical and serological features of systemic lupus erythematosus. Two novel mutations in the SMPD1 gene were found in compound heterozygosity: p.A36V and IVS2 + 8 T > G.
尼曼-匹克病是一种遗传性脂质贮积病，由酸性鞘磷脂酶缺乏引起，导致鞘磷脂在多个器官的细胞内蓄积，进而造成组织损伤。这种疾病广泛的临床谱可能与系统性红斑狼疮的临床谱重叠，从而妨碍鉴别诊断。在此，我们报告一例患有B型尼曼-匹克病且交织有系统性红斑狼疮临床和血清学特征的患者病例。在该患者中发现SMPD1基因存在两个新的复合杂合突变：p.A36V和IVS2+8 T>G。
