Dense deposit disease and the factor H H402 allele

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)228-232
Number of pages5
JournalClinical and Experimental Nephrology
Volume12
Issue number3
DOIs
StatePublished - Jun 2008

Fingerprint

Membranoproliferative Glomerulonephritis
Complement Factor H
Alleles
Kidney
Complement C3
Nephrotic Syndrome
Tacrolimus
Angiotensin-Converting Enzyme Inhibitors
Adrenal Cortex Hormones
Phenotype
Biopsy
Serum

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 journalArticle

Lau, Keith K. ; Smith, Richard J. ; Kolbeck, Peter C. ; Butani, Lavjay. / Dense deposit disease and the factor H H402 allele. In: Clinical and Experimental Nephrology. 2008 ; Vol. 12, No. 3. pp. 228-232.
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