作者: Martina Gaggl , Marlene Hofer , Stefanie Weidner , Julia Kleinert , Günter Fauler
DOI: 10.1007/S40620-015-0193-1
关键词: Fabry disease 、 Endocrinology 、 Excretion 、 Renal function 、 Kidney disease 、 Urinary system 、 Gene isoform 、 Globotriaosylceramide 、 Immunology 、 Internal medicine 、 Nephrology 、 Medicine
摘要: Globotriaosylceramide (Gb3, CD77) represents a pivotal part of the cell membrane. Measuring urinary Gb3 content can be used to screen patients with chronic kidney disease (CKD) for Fabry disease, disorder caused by hampered degradation. However, little is known about factors influencing excretion other than disease. The aim present study was identify routine diagnostic parameters as predictors in CKD. Our included 609 subjects CKD stage I–V. We analyzed influence age, gender, renal function, and chemical characteristics on concentrations (total Gb3, Gb3-24 isoform, Gb3-24:18 isoform ratio), determined direct electrospray ionization mass spectrometry. In median total 233 ng/mg ratio 1.2. Twenty-one patients, none whom had ≥2.3. Females excreted higher amount but comparable males. Renal function age no isoforms or ratio. Only distinct load bacteria leukocytes associated an increased excretion. Urinary leukocytes, erythrocytes, bacteria, protein did not affect unaffected several potential variables may thus applied screening unselected cohorts presenting