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Dense deposit disease and the factor H H402 allele
Journal article   Peer reviewed

Dense deposit disease and the factor H H402 allele

Keith K Lau, Richard J Smith, Peter C Kolbeck and Lavjay Butani
Clinical and experimental nephrology, Vol.12(3), pp.228-232
06/2008
DOI: 10.1007/s10157-008-0031-z
PMID: 18224273

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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.
Humans Immunosuppressive Agents - therapeutic use Male Chromosome Mapping Adrenal Cortex Hormones - therapeutic use Glomerulonephritis, Membranoproliferative - drug therapy Glomerulonephritis, Membranoproliferative - genetics Tacrolimus - therapeutic use Angiotensin-Converting Enzyme Inhibitors - therapeutic use Alleles Polymorphism, Genetic - genetics Glomerulonephritis, Membranoproliferative - diagnosis Complement Factor H - genetics Drug Therapy, Combination Child

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