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Dense deposit disease and the factor H H402 allele

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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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Authors and Affiliations

  1. Department of Pediatrics, University of California, Davis, 2516 Stockton Blvd., Sacramento, CA, 95817, USA

    Keith K. Lau & Lavjay Butani

  2. Department of Otolaryngology, Pediatrics and Internal Medicine, Division of Nephrology, The University of Iowa, 200 Hawkins Drive—21151 PFP, Iowa City, IA, 52242, USA

    Richard J. Smith

  3. Path Logic, 3637 Mission Ave., Ste 5, Carmichael, CA, 95608, USA

    Peter C. Kolbeck

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  1. Keith K. Lau
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  2. Richard J. Smith
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  3. Peter C. Kolbeck
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  4. Lavjay Butani
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Correspondence to Keith K. Lau.

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Lau, K.K., Smith, R.J., Kolbeck, P.C. et al. Dense deposit disease and the factor H H402 allele. Clin Exp Nephrol 12, 228–232 (2008). https://doi.org/10.1007/s10157-008-0031-z

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  • DOI: https://doi.org/10.1007/s10157-008-0031-z

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