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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 228-232 |
| Number of pages | 5 |
| Journal | Clinical and Experimental Nephrology |
| Volume | 12 |
| Issue number | 3 |
| DOIs | |
| State | Published - Jun 2008 |
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Keywords
- C3 nephritic factor
- Dense deposit disease
- Factor H
- MPGN
ASJC Scopus subject areas
- Nephrology
Cite this
Dense deposit disease and the factor H H402 allele. / Lau, Keith K.; Smith, Richard J.; Kolbeck, Peter C.; Butani, Lavjay.
In: Clinical and Experimental Nephrology, Vol. 12, No. 3, 06.2008, p. 228-232.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Dense deposit disease and the factor H H402 allele
AU - Lau, Keith K.
AU - Smith, Richard J.
AU - Kolbeck, Peter C.
AU - Butani, Lavjay
PY - 2008/6
Y1 - 2008/6
N2 - 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.
AB - 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.
KW - C3 nephritic factor
KW - Dense deposit disease
KW - Factor H
KW - MPGN
UR - http://www.scopus.com/inward/record.url?scp=44149123115&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=44149123115&partnerID=8YFLogxK
U2 - 10.1007/s10157-008-0031-z
DO - 10.1007/s10157-008-0031-z
M3 - Article
VL - 12
SP - 228
EP - 232
JO - Clinical and Experimental Nephrology
JF - Clinical and Experimental Nephrology
SN - 1342-1751
IS - 3
ER -