Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome

Meera Sridharan, Michelle L. Kluge, Ronald S. Go, Roshini S. Abraham, Ann M. Moyer

Research output: Contribution to journalArticlepeer-review

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by dysregulation of the alternative pathway of complement. Heterozygous variants in complement and complement regulatory proteins may increase risk for aHUS and, to date, the highest frequency of disease-causing variants in aHUS has been identified in the CFH gene encoding complement factor H. Clinical laboratory classification of variants identified in CFH can be challenging, particularly in the case of novel variants. In this report, we describe 6 patients with aHUS found to have rare variants in CFH and highlight challenges faced with variant classification in rare disorders such as aHUS.

Original languageEnglish (US)
Article number100002
JournalThrombosis Update
Volume1
DOIs
StatePublished - Dec 2020

Keywords

  • Alternative pathway
  • Complement factor H
  • Genetic variant classification
  • Thrombotic microangiopathy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Hematology

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