Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Human complement factor H deficiency associated with hemolytic uremic syndrome

N Rougier1, M D Kazatchkine, J P Rougier

  • 1Service d'Immunologie, Hôpital Broussais, Paris, France.

Journal of the American Society of Nephrology : JASN
|December 16, 1998
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The position during urine sample collection from young precontinent children through a bag does not limit contamination rates: Results from a randomized controlled trial: Does infant position influence quality of urine collection?

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2022
Same author

The association of prepartum urine pH, plasma total calcium concentration at calving and postpartum diseases in Holstein dairy cattle.

Animal : an international journal of animal bioscience·2021
Same author

Circulating CCL20 as a New Biomarker of Abdominal Aortic Aneurysm.

Scientific reports·2017
Same author

Application of transit data analysis and artificial neural network in the prediction of discharge of Lor River, NW Spain.

Water science and technology : a journal of the International Association on Water Pollution Research·2016
Same author

[Steroid intake before leukemia diagnosis impairs outcome in childhood acute lymphoblastic leukemia].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2013
Same author

Trends of rural tropospheric ozone at the northwest of the Iberian Peninsula.

TheScientificWorldJournal·2012

Factor H (FH) deficiency is linked to acute kidney disease, particularly in children with hemolytic uremic syndrome (HUS). This study highlights FH

Area of Science:

  • Immunology
  • Nephrology
  • Genetics

Background:

  • The human complement system is crucial for immune defense.
  • Factor H (FH) is a key regulator of the alternative complement pathway.
  • Deficiencies in complement proteins can lead to immune dysregulation and disease.

Observation:

  • Six cases of Factor H deficiency were identified in patients with acute renal disease.
  • Five of these cases involved children diagnosed with idiopathic hemolytic uremic syndrome (HUS).
  • Two children presented with homozygous FH deficiency, showing altered FH protein profiles.

Findings:

  • Homozygous FH deficiency was characterized by the absence of the 150-kD FH form and presence of FHL-1 and FHR proteins.
  • Genetic analysis ruled out large FH gene deletions as the cause of homozygous deficiency.

Related Experiment Videos

  • Heterozygous FH deficiency cases showed normal FH protein family patterns.

    • Implications:

    • Factor H deficiency is the sole known complement deficiency linked to HUS.
    • These findings suggest a significant role for FH in the pathogenesis of idiopathic HUS.
    • FH or its receptors may be critical targets for understanding and treating HUS.