caa a22 4500 44588259X CHVBK 20180317145548.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s10157-010-0358-0 doi (NATIONALLICENCE)springer-10.1007/s10157-010-0358-0 Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop mutation [Elektronische Daten] [Takayoshi Miura, Shin Goto, Seitaro Iguchi, Hisaki Shimada, Mitsuhiro Ueno, Shin-ichi Nishi, Ichiei Narita] Background: Arg95Stop mutation of exon 4 in complement component 9 (C9) gene is common in individuals in Japan with C9 deficiency (C9D); however, understanding of the influences of C9D on human glomerulonephritis remains elusive. Methods: A total of 1288 patients with chronic kidney disease (CKD) were recruited from the hospitals in Niigata prefecture. They were screened for the Arg95Stop mutation of C9 gene by allele-specific PCR. Results: We identified two individuals with C9D among 1,288 CKD patients, a frequency comparable to that of the general Japanese population (0.16%). Case 1 involved a 44-year-old man presenting with nephrotic proteinuria. The hemolytic activity of CH50 was low, and the concentration of C9 was not detected. Sequencing of exon 4 of the C9 gene showed the Arg95Stop mutation. Renal biopsy revealed diffuse global mesangial proliferation with extensive duplication of glomerular capillary walls. Mesangial, subendothelial and subepithelial deposits were noticed with light and electron microscopy. Immunofluorescent study showed predominant mesangial IgA deposition. Case 2 involved a 62-year-old man presenting with proteinuria and hematuria. His CH50 level was decreased. Renal biopsy revealed diffuse global mesangial proliferation with extensive duplication of glomerular capillary walls. Immune deposits were also confirmed. The percentage of C9D among patients with mesangial proliferation and duplication of GBM in this study was 5.1%. Conclusion: These results suggested that the lack of membrane attack complex because of an Arg95Stop mutation of the C9 gene predisposed patients to pathognomonic glomerulonephritis. Japanese Society of Nephrology, 2010 C9 nationallicence MAC nationallicence MPGN nationallicence PCR nationallicence Miura Takayoshi Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut Goto Shin Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut Iguchi Seitaro Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut Shimada Hisaki Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut Ueno Mitsuhiro Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut Nishi Shin-ichi Blood Purification Center, Niigata University Hospital, 1-757 Asahimachi-dori, 951-8510, Niigata, Japan aut Narita Ichiei Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut Clinical and Experimental Nephrology Springer Japan 15/1(2011-02-01), 86-91 1342-1751 15:1<86 2011 15 10157 https://doi.org/10.1007/s10157-010-0358-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10157-010-0358-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Miura Takayoshi Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut NATIONALLICENCE 700 1- Goto Shin Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut NATIONALLICENCE 700 1- Iguchi Seitaro Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut NATIONALLICENCE 700 1- Shimada Hisaki Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut NATIONALLICENCE 700 1- Ueno Mitsuhiro Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut NATIONALLICENCE 700 1- Nishi Shin-ichi Blood Purification Center, Niigata University Hospital, 1-757 Asahimachi-dori, 951-8510, Niigata, Japan aut NATIONALLICENCE 700 1- Narita Ichiei Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Asahimachi-dori, 951-8510, Niigata, Japan aut NATIONALLICENCE 773 0- Clinical and Experimental Nephrology Springer Japan 15/1(2011-02-01), 86-91 1342-1751 15:1<86 2011 15 10157 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer