Life-Threatening Extrarenal Manifestations in an Infant with Atypical Hemolytic Uremic Syndrome Caused by a Complement 3-Gene Mutation
Abstract Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment caused by uncontrolled activation of the complement system. About 20% of patients show extrarenal manifestatio...
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| Veröffentlicht in: | Kidney & blood pressure research 2019-10, Vol.44 (5), p.1300-1305 |
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| creator | Han, Sa Ra Cho, Myung Hyun Moon, Jin Soo Ha, Il Soo Cheong, Hae Il Kang, Hee Gyung |
| description | Abstract
Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment caused by uncontrolled activation of the complement system. About 20% of patients show extrarenal manifestations, with central nervous system involvement being the most frequent. We described the clinical course and management of aHUS in an infant, that was caused by a complement 3 (C3) gene mutation with severe extrarenal manifestations. Case Presentation: A 4-month-old girl visited our hospital for jaundice and petechiae. Laboratory tests revealed microangiopathic hemolytic anemia, thrombocytopenia, and hyperazotemia. She was diagnosed with aHUS with a C3 p.E1160K mutation. Daily fresh-frozen plasma (FFP) therapy was administered; however, she experienced the severe extrarenal manifestations of pulmonary hemorrhage and gastrointestinal bleeding. With aggressive treatment, supportive care, and daily FFP transfusion, the patient recovered and was discharged after 72 days of hospital stay, on a regular FFP transfusion. Four months after diagnosis, she was switched to eculizumab treatment. Twenty months have passed since then and she has been relapse-free until now. Conclusion: aHUS is rare but has a devastating course if not properly treated. Severe extrarenal manifestations, such as pulmonary hemorrhage and gastrointestinal bleeding, can develop in aHUS caused by a C3 mutation. In our case, long-term management with eculizumab resulted in relapse-free survival. |
| doi_str_mv | 10.1159/000502289 |
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Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment caused by uncontrolled activation of the complement system. About 20% of patients show extrarenal manifestations, with central nervous system involvement being the most frequent. We described the clinical course and management of aHUS in an infant, that was caused by a complement 3 (C3) gene mutation with severe extrarenal manifestations. Case Presentation: A 4-month-old girl visited our hospital for jaundice and petechiae. Laboratory tests revealed microangiopathic hemolytic anemia, thrombocytopenia, and hyperazotemia. She was diagnosed with aHUS with a C3 p.E1160K mutation. Daily fresh-frozen plasma (FFP) therapy was administered; however, she experienced the severe extrarenal manifestations of pulmonary hemorrhage and gastrointestinal bleeding. With aggressive treatment, supportive care, and daily FFP transfusion, the patient recovered and was discharged after 72 days of hospital stay, on a regular FFP transfusion. Four months after diagnosis, she was switched to eculizumab treatment. Twenty months have passed since then and she has been relapse-free until now. Conclusion: aHUS is rare but has a devastating course if not properly treated. Severe extrarenal manifestations, such as pulmonary hemorrhage and gastrointestinal bleeding, can develop in aHUS caused by a C3 mutation. In our case, long-term management with eculizumab resulted in relapse-free survival.</description><identifier>ISSN: 1420-4096</identifier><identifier>EISSN: 1423-0143</identifier><identifier>DOI: 10.1159/000502289</identifier><identifier>PMID: 31522186</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Abdomen ; Anemia ; Atypical hemolytic uremic syndrome ; Atypical Hemolytic Uremic Syndrome - complications ; Binding sites ; Biopsy ; Bleeding ; Blood ; Blood platelets ; Care and treatment ; Case Report ; Case studies ; Central nervous system ; Complement ; Complement (Immunology) ; Complement activation ; Complement C3 - genetics ; Complement component C3 ; Creatinine ; Dehydrogenases ; Diagnosis ; Eculizumab ; Esophagus ; Extrarenal manifestations ; Female ; Gastrointestinal bleeding ; Gastrointestinal hemorrhage ; Gene mutation ; Gene mutations ; Genes ; Genetic aspects ; Health aspects ; Health services ; Heart rate ; Hemodialysis ; Hemoglobin ; Hemolytic anemia ; Hemolytic uremic syndrome ; Hemorrhage ; Humans ; Infant ; Infants ; Jaundice ; Laboratory tests ; Mutation ; Patients ; Pediatric diseases ; Pediatric research ; Pediatrics ; Plasma ; Point mutation ; Pulmonary hemorrhage ; Purpura ; Remission (Medicine) ; Renal function ; Renal replacement therapy ; Skin ; Thrombocytopenia ; Transfusion ; Urine</subject><ispartof>Kidney & blood pressure research, 2019-10, Vol.44 (5), p.1300-1305</ispartof><rights>2019 The Author(s) Published by S. Karger AG, Basel</rights><rights>2019 The Author(s) Published by S. Karger AG, Basel.</rights><rights>COPYRIGHT 2019 S. Karger AG</rights><rights>2019 The Author(s) Published by S. Karger AG, Basel . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the associated terms available at: https://uk.sagepub.com/en-gb/eur/reusing-open-access-and-sage-choice-content</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c592t-28d0f570eaef4efcc89ce30aa7af1d5691bba9cca7571942265406f71b1333263</citedby><cites>FETCH-LOGICAL-c592t-28d0f570eaef4efcc89ce30aa7af1d5691bba9cca7571942265406f71b1333263</cites><orcidid>0000-0001-8323-5320</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,864,2102,27635,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31522186$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Han, Sa Ra</creatorcontrib><creatorcontrib>Cho, Myung Hyun</creatorcontrib><creatorcontrib>Moon, Jin Soo</creatorcontrib><creatorcontrib>Ha, Il Soo</creatorcontrib><creatorcontrib>Cheong, Hae Il</creatorcontrib><creatorcontrib>Kang, Hee Gyung</creatorcontrib><title>Life-Threatening Extrarenal Manifestations in an Infant with Atypical Hemolytic Uremic Syndrome Caused by a Complement 3-Gene Mutation</title><title>Kidney & blood pressure research</title><addtitle>Kidney Blood Press Res</addtitle><description>Abstract
Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment caused by uncontrolled activation of the complement system. About 20% of patients show extrarenal manifestations, with central nervous system involvement being the most frequent. We described the clinical course and management of aHUS in an infant, that was caused by a complement 3 (C3) gene mutation with severe extrarenal manifestations. Case Presentation: A 4-month-old girl visited our hospital for jaundice and petechiae. Laboratory tests revealed microangiopathic hemolytic anemia, thrombocytopenia, and hyperazotemia. She was diagnosed with aHUS with a C3 p.E1160K mutation. Daily fresh-frozen plasma (FFP) therapy was administered; however, she experienced the severe extrarenal manifestations of pulmonary hemorrhage and gastrointestinal bleeding. With aggressive treatment, supportive care, and daily FFP transfusion, the patient recovered and was discharged after 72 days of hospital stay, on a regular FFP transfusion. Four months after diagnosis, she was switched to eculizumab treatment. Twenty months have passed since then and she has been relapse-free until now. Conclusion: aHUS is rare but has a devastating course if not properly treated. Severe extrarenal manifestations, such as pulmonary hemorrhage and gastrointestinal bleeding, can develop in aHUS caused by a C3 mutation. In our case, long-term management with eculizumab resulted in relapse-free survival.</description><subject>Abdomen</subject><subject>Anemia</subject><subject>Atypical hemolytic uremic syndrome</subject><subject>Atypical Hemolytic Uremic Syndrome - complications</subject><subject>Binding sites</subject><subject>Biopsy</subject><subject>Bleeding</subject><subject>Blood</subject><subject>Blood platelets</subject><subject>Care and treatment</subject><subject>Case Report</subject><subject>Case studies</subject><subject>Central nervous system</subject><subject>Complement</subject><subject>Complement (Immunology)</subject><subject>Complement activation</subject><subject>Complement C3 - genetics</subject><subject>Complement component C3</subject><subject>Creatinine</subject><subject>Dehydrogenases</subject><subject>Diagnosis</subject><subject>Eculizumab</subject><subject>Esophagus</subject><subject>Extrarenal manifestations</subject><subject>Female</subject><subject>Gastrointestinal bleeding</subject><subject>Gastrointestinal hemorrhage</subject><subject>Gene mutation</subject><subject>Gene mutations</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Health aspects</subject><subject>Health services</subject><subject>Heart rate</subject><subject>Hemodialysis</subject><subject>Hemoglobin</subject><subject>Hemolytic anemia</subject><subject>Hemolytic uremic syndrome</subject><subject>Hemorrhage</subject><subject>Humans</subject><subject>Infant</subject><subject>Infants</subject><subject>Jaundice</subject><subject>Laboratory tests</subject><subject>Mutation</subject><subject>Patients</subject><subject>Pediatric diseases</subject><subject>Pediatric research</subject><subject>Pediatrics</subject><subject>Plasma</subject><subject>Point mutation</subject><subject>Pulmonary hemorrhage</subject><subject>Purpura</subject><subject>Remission (Medicine)</subject><subject>Renal function</subject><subject>Renal replacement therapy</subject><subject>Skin</subject><subject>Thrombocytopenia</subject><subject>Transfusion</subject><subject>Urine</subject><issn>1420-4096</issn><issn>1423-0143</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>M--</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DOA</sourceid><recordid>eNqNkk2P0zAQhiMEYpeFA3eELHHikMWfcXIs1bJb0RUS7J6jiT3upjR2cVJB_gC_G7cp5YIQ8sHW-Hnf8Ywny14yesmYqt5RShXlvKweZedMcpFTJsXjw5nmklbFWfas79cHjPKn2ZlginNWFufZz2XrML97iAgD-tavyNWPIUJEDxtyCz7d9gMMbfA9aT0BTxbegR_I93Z4ILNh3LYmkTfYhc04tIbcR-zS9mX0NoYOyRx2PVrSjATIPHTbDXaY5CK_Ro_kdjeZP8-eONj0-OK4X2T3H67u5jf58tP1Yj5b5kZVfMh5aalTmiKgk-iMKSuDggJocMyqomJNA5UxoJVmleS8UJIWTrOGCSF4IS6yxeRrA6zrbWw7iGMdoK0PgRBXNcRUxgZr6awBtAVVSktmyxKh0c4pZx2qstLJ683ktY3h2y61qV6HXUx962tBJRWsULr8F8Ulk0qWotx7XU7UClLq1ruQPsGkZffdDB5dm-KzQtBUlaDqvwVUq5IyvRe8nQQmhr6P6E7VM1rvp6g-TVFiXx_fvGs6tCfy99j8KeorxBXGE_Dx_efJot5al6hXf6WOWX4BxQ_Vnw</recordid><startdate>20191001</startdate><enddate>20191001</enddate><creator>Han, Sa Ra</creator><creator>Cho, Myung Hyun</creator><creator>Moon, Jin Soo</creator><creator>Ha, Il Soo</creator><creator>Cheong, Hae Il</creator><creator>Kang, Hee Gyung</creator><general>S. Karger AG</general><general>Karger Publishers</general><scope>M--</scope><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>IAO</scope><scope>3V.</scope><scope>7QL</scope><scope>7T7</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>S0X</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0001-8323-5320</orcidid></search><sort><creationdate>20191001</creationdate><title>Life-Threatening Extrarenal Manifestations in an Infant with Atypical Hemolytic Uremic Syndrome Caused by a Complement 3-Gene Mutation</title><author>Han, Sa Ra ; Cho, Myung Hyun ; Moon, Jin Soo ; Ha, Il Soo ; Cheong, Hae Il ; Kang, Hee Gyung</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c592t-28d0f570eaef4efcc89ce30aa7af1d5691bba9cca7571942265406f71b1333263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Abdomen</topic><topic>Anemia</topic><topic>Atypical hemolytic uremic syndrome</topic><topic>Atypical Hemolytic Uremic Syndrome - complications</topic><topic>Binding sites</topic><topic>Biopsy</topic><topic>Bleeding</topic><topic>Blood</topic><topic>Blood platelets</topic><topic>Care and treatment</topic><topic>Case Report</topic><topic>Case studies</topic><topic>Central nervous system</topic><topic>Complement</topic><topic>Complement (Immunology)</topic><topic>Complement activation</topic><topic>Complement C3 - genetics</topic><topic>Complement component C3</topic><topic>Creatinine</topic><topic>Dehydrogenases</topic><topic>Diagnosis</topic><topic>Eculizumab</topic><topic>Esophagus</topic><topic>Extrarenal manifestations</topic><topic>Female</topic><topic>Gastrointestinal bleeding</topic><topic>Gastrointestinal hemorrhage</topic><topic>Gene mutation</topic><topic>Gene mutations</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Health aspects</topic><topic>Health services</topic><topic>Heart rate</topic><topic>Hemodialysis</topic><topic>Hemoglobin</topic><topic>Hemolytic anemia</topic><topic>Hemolytic uremic syndrome</topic><topic>Hemorrhage</topic><topic>Humans</topic><topic>Infant</topic><topic>Infants</topic><topic>Jaundice</topic><topic>Laboratory tests</topic><topic>Mutation</topic><topic>Patients</topic><topic>Pediatric diseases</topic><topic>Pediatric research</topic><topic>Pediatrics</topic><topic>Plasma</topic><topic>Point mutation</topic><topic>Pulmonary hemorrhage</topic><topic>Purpura</topic><topic>Remission (Medicine)</topic><topic>Renal function</topic><topic>Renal replacement therapy</topic><topic>Skin</topic><topic>Thrombocytopenia</topic><topic>Transfusion</topic><topic>Urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Han, Sa Ra</creatorcontrib><creatorcontrib>Cho, Myung Hyun</creatorcontrib><creatorcontrib>Moon, Jin Soo</creatorcontrib><creatorcontrib>Ha, Il Soo</creatorcontrib><creatorcontrib>Cheong, Hae Il</creatorcontrib><creatorcontrib>Kang, Hee Gyung</creatorcontrib><collection>Karger Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale Academic OneFile</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts 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Sa Ra</au><au>Cho, Myung Hyun</au><au>Moon, Jin Soo</au><au>Ha, Il Soo</au><au>Cheong, Hae Il</au><au>Kang, Hee Gyung</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Life-Threatening Extrarenal Manifestations in an Infant with Atypical Hemolytic Uremic Syndrome Caused by a Complement 3-Gene Mutation</atitle><jtitle>Kidney & blood pressure research</jtitle><addtitle>Kidney Blood Press Res</addtitle><date>2019-10-01</date><risdate>2019</risdate><volume>44</volume><issue>5</issue><spage>1300</spage><epage>1305</epage><pages>1300-1305</pages><issn>1420-4096</issn><eissn>1423-0143</eissn><abstract>Abstract
Background: Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment caused by uncontrolled activation of the complement system. About 20% of patients show extrarenal manifestations, with central nervous system involvement being the most frequent. We described the clinical course and management of aHUS in an infant, that was caused by a complement 3 (C3) gene mutation with severe extrarenal manifestations. Case Presentation: A 4-month-old girl visited our hospital for jaundice and petechiae. Laboratory tests revealed microangiopathic hemolytic anemia, thrombocytopenia, and hyperazotemia. She was diagnosed with aHUS with a C3 p.E1160K mutation. Daily fresh-frozen plasma (FFP) therapy was administered; however, she experienced the severe extrarenal manifestations of pulmonary hemorrhage and gastrointestinal bleeding. With aggressive treatment, supportive care, and daily FFP transfusion, the patient recovered and was discharged after 72 days of hospital stay, on a regular FFP transfusion. Four months after diagnosis, she was switched to eculizumab treatment. Twenty months have passed since then and she has been relapse-free until now. Conclusion: aHUS is rare but has a devastating course if not properly treated. Severe extrarenal manifestations, such as pulmonary hemorrhage and gastrointestinal bleeding, can develop in aHUS caused by a C3 mutation. In our case, long-term management with eculizumab resulted in relapse-free survival.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>31522186</pmid><doi>10.1159/000502289</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0001-8323-5320</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Abdomen Anemia Atypical hemolytic uremic syndrome Atypical Hemolytic Uremic Syndrome - complications Binding sites Biopsy Bleeding Blood Blood platelets Care and treatment Case Report Case studies Central nervous system Complement Complement (Immunology) Complement activation Complement C3 - genetics Complement component C3 Creatinine Dehydrogenases Diagnosis Eculizumab Esophagus Extrarenal manifestations Female Gastrointestinal bleeding Gastrointestinal hemorrhage Gene mutation Gene mutations Genes Genetic aspects Health aspects Health services Heart rate Hemodialysis Hemoglobin Hemolytic anemia Hemolytic uremic syndrome Hemorrhage Humans Infant Infants Jaundice Laboratory tests Mutation Patients Pediatric diseases Pediatric research Pediatrics Plasma Point mutation Pulmonary hemorrhage Purpura Remission (Medicine) Renal function Renal replacement therapy Skin Thrombocytopenia Transfusion Urine |
| title | Life-Threatening Extrarenal Manifestations in an Infant with Atypical Hemolytic Uremic Syndrome Caused by a Complement 3-Gene Mutation |
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