A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan
For thrombotic microangiopathies (TMAs), the diagnosis of atypical hemolytic uremic syndrome (aHUS) is made by ruling out Shiga toxin-producing Escherichia coli (STEC)-associated HUS and ADAMTS13 activity-deficient thrombotic thrombocytopenic purpura (TTP), often using the exclusion criteria for sec...
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| creator | Yoshida, Yoko Miyata, Toshiyuki Matsumoto, Masanori Shirotani-Ikejima, Hiroko Uchida, Yumiko Ohyama, Yoshifumi Kokubo, Tetsuro Fujimura, Yoshihiro |
| description | For thrombotic microangiopathies (TMAs), the diagnosis of atypical hemolytic uremic syndrome (aHUS) is made by ruling out Shiga toxin-producing Escherichia coli (STEC)-associated HUS and ADAMTS13 activity-deficient thrombotic thrombocytopenic purpura (TTP), often using the exclusion criteria for secondary TMAs. Nowadays, assays for ADAMTS13 activity and evaluation for STEC infection can be performed within a few hours. However, a confident diagnosis of aHUS often requires comprehensive gene analysis of the alternative complement activation pathway, which usually takes at least several weeks. However, predisposing genetic abnormalities are only identified in approximately 70% of aHUS. To facilitate the diagnosis of complement-mediated aHUS, we describe a quantitative hemolytic assay using sheep red blood cells (RBCs) and human citrated plasma, spiked with or without a novel inhibitory anti-complement factor H (CFH) monoclonal antibody. Among 45 aHUS patients in Japan, 24% (11/45) had moderate-to-severe (≥50%) hemolysis, whereas the remaining 76% (34/45) patients had mild or no hemolysis ( |
| doi_str_mv | 10.1371/journal.pone.0124655 |
| format | Article |
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Nowadays, assays for ADAMTS13 activity and evaluation for STEC infection can be performed within a few hours. However, a confident diagnosis of aHUS often requires comprehensive gene analysis of the alternative complement activation pathway, which usually takes at least several weeks. However, predisposing genetic abnormalities are only identified in approximately 70% of aHUS. To facilitate the diagnosis of complement-mediated aHUS, we describe a quantitative hemolytic assay using sheep red blood cells (RBCs) and human citrated plasma, spiked with or without a novel inhibitory anti-complement factor H (CFH) monoclonal antibody. Among 45 aHUS patients in Japan, 24% (11/45) had moderate-to-severe (≥50%) hemolysis, whereas the remaining 76% (34/45) patients had mild or no hemolysis (<50%). The former group is largely attributed to CFH-related abnormalities, and the latter group has C3-p.I1157T mutations (16/34), which were identified by restriction fragment length polymorphism (RFLP) analysis. Thus, a quantitative hemolytic assay coupled with RFLP analysis enabled the early diagnosis of complement-mediated aHUS in 60% (27/45) of patients in Japan within a week of presentation. We hypothesize that this novel quantitative hemolytic assay would be more useful in a Caucasian population, who may have a higher proportion of CFH mutations than Japanese patients.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0124655</identifier><identifier>PMID: 25951460</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Abnormalities ; Animals ; Antibodies, Monoclonal - metabolism ; Asian Continental Ancestry Group - genetics ; Assaying ; Atypical Hemolytic Uremic Syndrome - diagnosis ; Atypical Hemolytic Uremic Syndrome - genetics ; Atypical Hemolytic Uremic Syndrome - immunology ; Bioassay ; Blood cells ; Blood transfusions ; Cellular biology ; Complement ; Complement activation ; Complement C3 - genetics ; Complement component C3 ; Complement factor H ; Complement Factor H - genetics ; Complement Factor H - metabolism ; Complement Hemolytic Activity Assay - methods ; Complement system ; Diagnosis ; E coli ; Early Diagnosis ; Erythrocytes ; Erythrocytes - immunology ; Female ; Gene mutation ; Genetic abnormalities ; Genetic aspects ; Genetic Predisposition to Disease ; Hemolysis ; Hemolytic uremic syndrome ; Humans ; Identification and classification ; Infections ; Japan ; Kinases ; Laboratories ; Life sciences ; Male ; Medical diagnosis ; Methods ; Monoclonal antibodies ; Mutation ; Ovis aries ; Pathogenesis ; Patients ; Pediatrics ; Plasma ; Polymorphism ; Polymorphism, Restriction Fragment Length ; Proteins ; Purpura ; Restriction fragment length polymorphism ; Restriction fragment length polymorphism analysis ; Sheep ; Sheep - blood ; Sheep - immunology ; Sheep red blood cells ; Shiga toxin ; Thrombocytopenic purpura ; Thrombotic thrombocytopenic purpura ; Toxins ; Transplants & implants</subject><ispartof>PloS one, 2015-05, Vol.10 (5), p.e0124655-e0124655</ispartof><rights>COPYRIGHT 2015 Public Library of Science</rights><rights>2015 Yoshida et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2015 Yoshida et al 2015 Yoshida et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c765t-1fe9afcedf2f957c5fff31ed405ac321aabb2e549a8917d84607e6805bc22c03</citedby><cites>FETCH-LOGICAL-c765t-1fe9afcedf2f957c5fff31ed405ac321aabb2e549a8917d84607e6805bc22c03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423893/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423893/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2095,2914,23846,27903,27904,53769,53771,79346,79347</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25951460$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Palaniyar, Nades</contributor><creatorcontrib>Yoshida, Yoko</creatorcontrib><creatorcontrib>Miyata, Toshiyuki</creatorcontrib><creatorcontrib>Matsumoto, Masanori</creatorcontrib><creatorcontrib>Shirotani-Ikejima, Hiroko</creatorcontrib><creatorcontrib>Uchida, Yumiko</creatorcontrib><creatorcontrib>Ohyama, Yoshifumi</creatorcontrib><creatorcontrib>Kokubo, Tetsuro</creatorcontrib><creatorcontrib>Fujimura, Yoshihiro</creatorcontrib><title>A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>For thrombotic microangiopathies (TMAs), the diagnosis of atypical hemolytic uremic syndrome (aHUS) is made by ruling out Shiga toxin-producing Escherichia coli (STEC)-associated HUS and ADAMTS13 activity-deficient thrombotic thrombocytopenic purpura (TTP), often using the exclusion criteria for secondary TMAs. Nowadays, assays for ADAMTS13 activity and evaluation for STEC infection can be performed within a few hours. However, a confident diagnosis of aHUS often requires comprehensive gene analysis of the alternative complement activation pathway, which usually takes at least several weeks. However, predisposing genetic abnormalities are only identified in approximately 70% of aHUS. To facilitate the diagnosis of complement-mediated aHUS, we describe a quantitative hemolytic assay using sheep red blood cells (RBCs) and human citrated plasma, spiked with or without a novel inhibitory anti-complement factor H (CFH) monoclonal antibody. Among 45 aHUS patients in Japan, 24% (11/45) had moderate-to-severe (≥50%) hemolysis, whereas the remaining 76% (34/45) patients had mild or no hemolysis (<50%). The former group is largely attributed to CFH-related abnormalities, and the latter group has C3-p.I1157T mutations (16/34), which were identified by restriction fragment length polymorphism (RFLP) analysis. Thus, a quantitative hemolytic assay coupled with RFLP analysis enabled the early diagnosis of complement-mediated aHUS in 60% (27/45) of patients in Japan within a week of presentation. We hypothesize that this novel quantitative hemolytic assay would be more useful in a Caucasian population, who may have a higher proportion of CFH mutations than Japanese patients.</description><subject>Abnormalities</subject><subject>Animals</subject><subject>Antibodies, Monoclonal - metabolism</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Assaying</subject><subject>Atypical Hemolytic Uremic Syndrome - diagnosis</subject><subject>Atypical Hemolytic Uremic Syndrome - genetics</subject><subject>Atypical Hemolytic Uremic Syndrome - immunology</subject><subject>Bioassay</subject><subject>Blood cells</subject><subject>Blood transfusions</subject><subject>Cellular biology</subject><subject>Complement</subject><subject>Complement activation</subject><subject>Complement C3 - genetics</subject><subject>Complement component C3</subject><subject>Complement factor H</subject><subject>Complement Factor H - genetics</subject><subject>Complement Factor H - metabolism</subject><subject>Complement Hemolytic Activity Assay - methods</subject><subject>Complement system</subject><subject>Diagnosis</subject><subject>E coli</subject><subject>Early Diagnosis</subject><subject>Erythrocytes</subject><subject>Erythrocytes - immunology</subject><subject>Female</subject><subject>Gene mutation</subject><subject>Genetic abnormalities</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Hemolysis</subject><subject>Hemolytic uremic syndrome</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Infections</subject><subject>Japan</subject><subject>Kinases</subject><subject>Laboratories</subject><subject>Life sciences</subject><subject>Male</subject><subject>Medical diagnosis</subject><subject>Methods</subject><subject>Monoclonal antibodies</subject><subject>Mutation</subject><subject>Ovis aries</subject><subject>Pathogenesis</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Plasma</subject><subject>Polymorphism</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Proteins</subject><subject>Purpura</subject><subject>Restriction fragment length polymorphism</subject><subject>Restriction fragment length polymorphism analysis</subject><subject>Sheep</subject><subject>Sheep - blood</subject><subject>Sheep - immunology</subject><subject>Sheep red blood cells</subject><subject>Shiga toxin</subject><subject>Thrombocytopenic purpura</subject><subject>Thrombotic thrombocytopenic purpura</subject><subject>Toxins</subject><subject>Transplants & implants</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNqNk1trFDEUxwdRbK1-A9GAIPqwayaZzOVFKMVLpVDQ4ms4mzkzm5JJpkmmut_Uj2Om3ZZd6YPMQ4aT3_mfW06WvczpMudV_uHSTd6CWY7O4pLmrCiFeJQd5g1ni5JR_njn_yB7FsIlpYLXZfk0O2CiEXlR0sPszzGx7hoNuZrARh0h6mskaxyc2UStCIQAG6LcNBpsyS8d18RjiF6rqJ0lnYd-QBuJQdunuzG5Dc6Pax2GQCDltwk6ELSwmv0RvNmQVkNv3Wx3HYG4GbUCsxNz8jikI2xs692ASaYluk1RdKeTyGT11YRk9NjqMCYd25NhmjN3NhBtyTcYwT7PnnRgAr7YnkfZxedPFydfF2fnX05Pjs8WqipFXOQdNtApbDvWNaJSous6nmNbUAGKsxxgtWIoigbqJq_aOjWtwrKmYqUYU5QfZa9vZUfjgtzOJMi8rJqCsoY1iTi9JVoHl3L0egC_kQ60vDE430vwqWyDsmioqHjZlpWgRV1zoKLAUrSs5gJBQNL6uI02rQZsVeqJB7Mnun9j9Vr27loWBeN1w5PAu62Ad6mJIcpBB4XGgEU3zXnXNG9oWc3om3_Qh6vbUj2kArTtXIqrZlF5XHDKOWdcJGr5AJW-dp50esCdTvY9h_d7DomJ-Dv2MIUgT398_3_2_Oc--3aHXSOYuA7OTDdvZx8sbkHlXQgeu_sm51TO-3fXDTnvn9zuX3J7tTuge6e7heN_AZiGMhY</recordid><startdate>20150507</startdate><enddate>20150507</enddate><creator>Yoshida, Yoko</creator><creator>Miyata, Toshiyuki</creator><creator>Matsumoto, Masanori</creator><creator>Shirotani-Ikejima, Hiroko</creator><creator>Uchida, Yumiko</creator><creator>Ohyama, Yoshifumi</creator><creator>Kokubo, Tetsuro</creator><creator>Fujimura, Yoshihiro</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20150507</creationdate><title>A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan</title><author>Yoshida, Yoko ; Miyata, Toshiyuki ; Matsumoto, Masanori ; Shirotani-Ikejima, Hiroko ; Uchida, Yumiko ; Ohyama, Yoshifumi ; Kokubo, Tetsuro ; Fujimura, Yoshihiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c765t-1fe9afcedf2f957c5fff31ed405ac321aabb2e549a8917d84607e6805bc22c03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Abnormalities</topic><topic>Animals</topic><topic>Antibodies, Monoclonal - 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Academic</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Agricultural Science Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Advanced Technologies & Aerospace Database</collection><collection>ProQuest Advanced Technologies & Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Environmental Science Database</collection><collection>Materials Science Collection</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yoshida, Yoko</au><au>Miyata, Toshiyuki</au><au>Matsumoto, Masanori</au><au>Shirotani-Ikejima, Hiroko</au><au>Uchida, Yumiko</au><au>Ohyama, Yoshifumi</au><au>Kokubo, Tetsuro</au><au>Fujimura, Yoshihiro</au><au>Palaniyar, Nades</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2015-05-07</date><risdate>2015</risdate><volume>10</volume><issue>5</issue><spage>e0124655</spage><epage>e0124655</epage><pages>e0124655-e0124655</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>For thrombotic microangiopathies (TMAs), the diagnosis of atypical hemolytic uremic syndrome (aHUS) is made by ruling out Shiga toxin-producing Escherichia coli (STEC)-associated HUS and ADAMTS13 activity-deficient thrombotic thrombocytopenic purpura (TTP), often using the exclusion criteria for secondary TMAs. Nowadays, assays for ADAMTS13 activity and evaluation for STEC infection can be performed within a few hours. However, a confident diagnosis of aHUS often requires comprehensive gene analysis of the alternative complement activation pathway, which usually takes at least several weeks. However, predisposing genetic abnormalities are only identified in approximately 70% of aHUS. To facilitate the diagnosis of complement-mediated aHUS, we describe a quantitative hemolytic assay using sheep red blood cells (RBCs) and human citrated plasma, spiked with or without a novel inhibitory anti-complement factor H (CFH) monoclonal antibody. Among 45 aHUS patients in Japan, 24% (11/45) had moderate-to-severe (≥50%) hemolysis, whereas the remaining 76% (34/45) patients had mild or no hemolysis (<50%). The former group is largely attributed to CFH-related abnormalities, and the latter group has C3-p.I1157T mutations (16/34), which were identified by restriction fragment length polymorphism (RFLP) analysis. Thus, a quantitative hemolytic assay coupled with RFLP analysis enabled the early diagnosis of complement-mediated aHUS in 60% (27/45) of patients in Japan within a week of presentation. We hypothesize that this novel quantitative hemolytic assay would be more useful in a Caucasian population, who may have a higher proportion of CFH mutations than Japanese patients.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>25951460</pmid><doi>10.1371/journal.pone.0124655</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2015-05, Vol.10 (5), p.e0124655-e0124655 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1679402929 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Public Library of Science (PLoS); EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Abnormalities Animals Antibodies, Monoclonal - metabolism Asian Continental Ancestry Group - genetics Assaying Atypical Hemolytic Uremic Syndrome - diagnosis Atypical Hemolytic Uremic Syndrome - genetics Atypical Hemolytic Uremic Syndrome - immunology Bioassay Blood cells Blood transfusions Cellular biology Complement Complement activation Complement C3 - genetics Complement component C3 Complement factor H Complement Factor H - genetics Complement Factor H - metabolism Complement Hemolytic Activity Assay - methods Complement system Diagnosis E coli Early Diagnosis Erythrocytes Erythrocytes - immunology Female Gene mutation Genetic abnormalities Genetic aspects Genetic Predisposition to Disease Hemolysis Hemolytic uremic syndrome Humans Identification and classification Infections Japan Kinases Laboratories Life sciences Male Medical diagnosis Methods Monoclonal antibodies Mutation Ovis aries Pathogenesis Patients Pediatrics Plasma Polymorphism Polymorphism, Restriction Fragment Length Proteins Purpura Restriction fragment length polymorphism Restriction fragment length polymorphism analysis Sheep Sheep - blood Sheep - immunology Sheep red blood cells Shiga toxin Thrombocytopenic purpura Thrombotic thrombocytopenic purpura Toxins Transplants & implants |
| title | A novel quantitative hemolytic assay coupled with restriction fragment length polymorphisms analysis enabled early diagnosis of atypical hemolytic uremic syndrome and identified unique predisposing mutations in Japan |
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