Dense deposit disease and the factor H H402 allele

Keith K. Lau; Richard J. Smith; Peter C. Kolbeck; Lavjay Butani

doi:10.1007/s10157-008-0031-z

Dense deposit disease and the factor H H402 allele

Keith K. Lau, Richard J. Smith, Peter C. Kolbeck, Lavjay Butani

Pediatric Nephrology

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8 Scopus citations

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	https://doi.org/10.1007/s10157-008-0031-z
State	Published - Jun 2008

Keywords

C3 nephritic factor
Dense deposit disease
Factor H
MPGN

ASJC Scopus subject areas

Nephrology

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10.1007/s10157-008-0031-z

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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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AU - Smith, Richard J.

AU - Kolbeck, Peter C.

AU - Butani, Lavjay

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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.

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KW - Dense deposit disease

KW - Factor H

KW - MPGN

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Dense deposit disease and the factor H H402 allele

Abstract

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