Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency

Beom Hee Lee, Soo Heon Kwak, Jae Il Shin, So Hee Lee, Hyun Jin Choi, Hee Gyung Kang, Il Soo Ha, Jae Seung Lee, Marie Agnès Dragon-Durey, Yong Choi, Hae Il Cheong

Research output: Contribution to journalArticle

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Abstract

Although genetic defect of complement factor H (CFH) is a common cause of atypical hemolytic uremic syndrome (aHUS), development of autoantibodies to CFH (CFH-Ab) is also known to be an acquired cause of aHUS. Recently, a correlation between the development of CFH-Ab and the deficiency of the CFH-related proteins, CFHR1 and CFHR3, was identified. In this study, plasma complement profiles were measured and genetic analysis of the CFH, CFI, MCP, CFHR1, and CFHR3 genes were performed in three female patients diagnosed with aHUS with positive CFH-Ab. Acute stage plasmas of all the three patients revealed low C3, low or low-normal CFH antigenic levels, and high titers of CFH-Ab. AU the patients also showed complete plasma CFHR1 deficiency and homozygous genomic deletion of CFHR1/CFHR3, but none had CFH, CFI, or MCP mutations. All the patients were treated with plasmapheresis, and two patients required additional immunosuppressive therapy. These patients had a novel subgroup of aHUS characterized by a combination of genetic (a homozygous deletion of CFHR1/CFHR3) and acquired (development of CFH-Ab) factors. Patients with this disease may need intensive immunosuppressive therapy in addition to plasmapheresis. Screening for CFH-Ab and the CFHR1/CFHR3 deficiency should be included in the diagnostic tests for patients with aHUS.

Original languageEnglish
Pages (from-to)336-340
Number of pages5
JournalPediatric Research
Volume66
Issue number3
DOIs
Publication statusPublished - 2009 Sep 1

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Complement Factor H
Autoantibodies
Plasmapheresis
Immunosuppressive Agents
Atypical Hemolytic Uremic Syndrome
Routine Diagnostic Tests

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Lee, Beom Hee ; Kwak, Soo Heon ; Shin, Jae Il ; Lee, So Hee ; Choi, Hyun Jin ; Kang, Hee Gyung ; Ha, Il Soo ; Lee, Jae Seung ; Dragon-Durey, Marie Agnès ; Choi, Yong ; Cheong, Hae Il. / Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency. In: Pediatric Research. 2009 ; Vol. 66, No. 3. pp. 336-340.
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abstract = "Although genetic defect of complement factor H (CFH) is a common cause of atypical hemolytic uremic syndrome (aHUS), development of autoantibodies to CFH (CFH-Ab) is also known to be an acquired cause of aHUS. Recently, a correlation between the development of CFH-Ab and the deficiency of the CFH-related proteins, CFHR1 and CFHR3, was identified. In this study, plasma complement profiles were measured and genetic analysis of the CFH, CFI, MCP, CFHR1, and CFHR3 genes were performed in three female patients diagnosed with aHUS with positive CFH-Ab. Acute stage plasmas of all the three patients revealed low C3, low or low-normal CFH antigenic levels, and high titers of CFH-Ab. AU the patients also showed complete plasma CFHR1 deficiency and homozygous genomic deletion of CFHR1/CFHR3, but none had CFH, CFI, or MCP mutations. All the patients were treated with plasmapheresis, and two patients required additional immunosuppressive therapy. These patients had a novel subgroup of aHUS characterized by a combination of genetic (a homozygous deletion of CFHR1/CFHR3) and acquired (development of CFH-Ab) factors. Patients with this disease may need intensive immunosuppressive therapy in addition to plasmapheresis. Screening for CFH-Ab and the CFHR1/CFHR3 deficiency should be included in the diagnostic tests for patients with aHUS.",
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Lee, BH, Kwak, SH, Shin, JI, Lee, SH, Choi, HJ, Kang, HG, Ha, IS, Lee, JS, Dragon-Durey, MA, Choi, Y & Cheong, HI 2009, 'Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency', Pediatric Research, vol. 66, no. 3, pp. 336-340. https://doi.org/10.1203/PDR.0b013e3181b1bd4a

Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency. / Lee, Beom Hee; Kwak, Soo Heon; Shin, Jae Il; Lee, So Hee; Choi, Hyun Jin; Kang, Hee Gyung; Ha, Il Soo; Lee, Jae Seung; Dragon-Durey, Marie Agnès; Choi, Yong; Cheong, Hae Il.

In: Pediatric Research, Vol. 66, No. 3, 01.09.2009, p. 336-340.

Research output: Contribution to journalArticle

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AU - Lee, Beom Hee

AU - Kwak, Soo Heon

AU - Shin, Jae Il

AU - Lee, So Hee

AU - Choi, Hyun Jin

AU - Kang, Hee Gyung

AU - Ha, Il Soo

AU - Lee, Jae Seung

AU - Dragon-Durey, Marie Agnès

AU - Choi, Yong

AU - Cheong, Hae Il

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