Thrombotic microangiopathy: focus on atypical hemolytic uremic syndrome.

Abstract

Thrombotic microangiopathies (TMA) such as atypical hemolytic uremic syndrome (aHUS) have evolved from rare, fulminant childhood afflictions to uncommon diseases with acute and chronic phases involving both children and adults. Breakthroughs in complement and coagulation regulation have allowed redefinition of specific entities despite substantial phenotypic mimicry. Reconciliation of phenotypes and delivery of life saving therapies require a multidisciplinary team of experts. The purpose of this review is to describe advances in the molecular pathophysiology of aHUS and to share the 2014 experience of the multidisciplinary Johns Hopkins TMA Registry in applying diagnostic assays, reporting disease associations, and genetic testing.

• Authors: C John Sperati, Alison R Moliterno
• Journal: Hematology/oncology clinics of North America (Hematol Oncol Clin North Am) Vol. 29 Issue 3 Pg. 541-59 (Jun 2015) ISSN: 1558-1977 [Electronic] United States
• PMID: 26043391 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2015 Elsevier Inc. All rights reserved.

Chemical References

• Complement System Proteins
• ADAM Proteins
• ADAMTS13 Protein
• ADAMTS13 protein, human

Topics

• ADAM Proteins (genetics, metabolism)
• ADAMTS13 Protein
• Adult
• Atypical Hemolytic Uremic Syndrome (diagnosis, genetics, physiopathology)
• Child
• Complement System Proteins (genetics, metabolism)
• Diagnosis, Differential
• Genetic Testing
• Genetic Variation
• Humans
• Thrombotic Microangiopathies (diagnosis, genetics, physiopathology)