Table 2.

Recommended Evaluations Following Initial Diagnosis in Individuals with Genetic Atypical Hemolytic-Uremic Syndrome

System/ConcernEvaluationComment

Renal

  • Creatinine clearance (i.e., GFR)
  • Serum concentration of creatinine resources
  • Urinalysis
To assess renal function

Hematologic

  • Platelet count
  • Erythrocyte count
  • Histologic eval of blood smear for schistocytes
  • Leukocyte count
  • Serum LDH concentration
  • Haptoglobin
To evaluate hematologic status & assess severity of hemolysis
Immunologic
  • Serum C3 & C4 concentrations
  • Plasma concentrations of Bb & sC5b-9
  • Serum concentrations of CFH & CFI
  • CD46 expression on leukocytes
To assess complement system
Testing for CFH autoantibodiesAffected persons who have autoantibodies could benefit from an immunosuppressive therapy (see Treatment of Manifestations).
Genetic
counseling 		By genetics professionals 1To inform patients & families re nature, MOI, & implications of genetic aHUS to facilitate medical & personal decision making

GFR = glomerular filtration rate; LDH = lactate dehydrogenase; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Genetic Atypical Hemolytic-Uremic Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.