title: Dense deposit disease and the factor H H402 allele.
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.
authors.affiliation: Department of Pediatrics, University of California, Davis, 2516 Stockton Blvd., Sacramento, CA 95817, USA. keith.lau@ucdmc.ucdavis.edu
authors.forename: Keith K
authors.initials: KK
authors.lastname: Lau
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Smith
authors.forename: Peter C
authors.initials: PC
authors.lastname: Kolbeck
authors.forename: Lavjay
authors.initials: L
authors.lastname: Butani
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000483:Alleles; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use; D002648:Child; D002874:Chromosome Mapping; D017242:Complement Factor H / Q000235:genetics*; D004359:Drug Therapy, Combination; D015432:Glomerulonephritis, Membranoproliferative / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D016559:Tacrolimus / Q000627:therapeutic use
chemical_list: D000305:Adrenal Cortex Hormones; D000806:Angiotensin-Converting Enzyme Inhibitors; D007166:Immunosuppressive Agents; D017242:Complement Factor H; D016559:Tacrolimus