| Title |
Dense deposit disease and the factor H H402 allele
|
|---|---|
| Published in |
Clinical and Experimental Nephrology, January 2008
|
| DOI | 10.1007/s10157-008-0031-z |
| Pubmed ID | |
| Authors |
Keith K. Lau, Richard J. Smith, Peter C. Kolbeck, Lavjay Butani |
| Abstract |
Herein, we describe the case of an 8-year-old boy who presented with a nephritic nephrotic syndrome. His laboratory investigation was significant for a persistently low serum complement 3 level. A renal biopsy was performed, based on which, he was diagnosed with dense deposit disease/membranoproliferative glomerulonephritis type II (DDD/MPGN II). He was treated with alternate-day oral corticosteroids, angiotensin-converting enzyme (ACE) inhibitors and tacrolimus. Factor H mutational analysis showed the Y402H and I62V allele polymorphisms. The purpose of our report is to discuss the association of the H402 allele variant of factor H with the DDD/MPGN II phenotype and its possible therapeutic implications. |
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Mendeley demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 10 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 3 | 30% |
| Professor | 2 | 20% |
| Student > Ph. D. Student | 2 | 20% |
| Student > Master | 1 | 10% |
| Student > Postgraduate | 1 | 10% |
| Other | 0 | 0% |
| Unknown | 1 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 40% |
| Biochemistry, Genetics and Molecular Biology | 2 | 20% |
| Agricultural and Biological Sciences | 1 | 10% |
| Psychology | 1 | 10% |
| Unknown | 2 | 20% |