Recurrent Atypical Hemolytic Uremic Syndrome Associated With Factor I Mutation in a Living Related Renal Transplant Recipient

Micah R Chan; Christie P Thomas; Jose R Torrealba; Arjang Djamali; Luis A Fernandez; Carla J Nishimura; Richard J.H Smith; Millie D Samaniego

doi:10.1053/j.ajkd.2008.06.027

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Recurrent Atypical Hemolytic Uremic Syndrome Associated With Factor I Mutation in a Living Related Renal Transplant Recipient

Journal article

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Recurrent Atypical Hemolytic Uremic Syndrome Associated With Factor I Mutation in a Living Related Renal Transplant Recipient

Micah R Chan, Christie P Thomas, Jose R Torrealba, Arjang Djamali, Luis A Fernandez, Carla J Nishimura, Richard J.H Smith and Millie D Samaniego

American journal of kidney diseases, Vol.53(2), pp.321-326

2009

DOI: 10.1053/j.ajkd.2008.06.027

PMCID: PMC2879708

PMID: 18805611

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Abstract

Atypical hemolytic uremic syndrome, or the nondiarrheal form of hemolytic uremic syndrome, is a rare disorder typically classified as familial or sporadic. Recent literature has suggested that approximately 50% of patients have mutations in factor H ( CFH), factor I ( CFI), or membrane cofactor protein (encoded by CD46). Importantly, results of renal transplantation in patients with mutations in either CFH or CFI are dismal, with recurrent disease leading to graft loss in the majority of cases. We describe an adult renal transplant recipient who developed recurrent hemolytic uremic syndrome 1 month after transplantation. Bidirectional sequencing of CFH, CFI, and CD46 confirmed that the patient was heterozygous for a novel missense mutation, a substitution of a serine reside for a tyrosine residue at amino acid 369, in CFI. This report reemphasizes the importance of screening patients with atypical hemolytic uremic syndrome for mutations in these genes before renal transplantation and shows the challenges in the management of these patients.

factor I

Kidney transplant

recurrent

hemolytic uremic syndrome (HUS)

Details

Title: Subtitle: Recurrent Atypical Hemolytic Uremic Syndrome Associated With Factor I Mutation in a Living Related Renal Transplant Recipient
Creators: Micah R Chan - Department of Medicine, Section of Nephrology, University of Wisconsin Hospitals and Clinics, Madison, WI
Christie P Thomas - Department of Medicine, Division of Nephrology, University of Iowa, Iowa City, IA
Jose R Torrealba - Department of Pathology and Laboratory Medicine, University of Wisconsin Hospitals and Clinics, Madison, WI
Arjang Djamali - Department of Medicine, Section of Nephrology, University of Wisconsin Hospitals and Clinics, Madison, WI
Luis A Fernandez - Department of Surgery, Division of Transplantation, University of Wisconsin Hospitals and Clinics, Madison, WI
Carla J Nishimura - Department of Otolaryngology, University of Iowa, Iowa City, IA
Richard J.H Smith - Department of Medicine, Division of Nephrology, University of Iowa, Iowa City, IA
Millie D Samaniego - Department of Medicine, Section of Nephrology, University of Wisconsin Hospitals and Clinics, Madison, WI
Resource Type: Journal article
Publication Details: American journal of kidney diseases, Vol.53(2), pp.321-326
DOI: 10.1053/j.ajkd.2008.06.027
PMID: 18805611
PMCID: PMC2879708
NLM abbreviation: Am J Kidney Dis
ISSN: 0272-6386
eISSN: 1523-6838
Publisher: Elsevier Inc
Language: English
Date published: 2009
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Obstetrics and Gynecology; Otolaryngology; Internal Medicine
Record Identifier: 9983986083802771

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