Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings
Three of four siblings born to nonconsanguineous parents of Italian origin were affected with severe congenital hemolytic anemia of unknown cause, and early-onset pulmonary emphysema. Two of the three affected siblings died of septic shock after splenectomy, at the ages of 7 and 3 1/2 years, respect...
Gespeichert in:
| Veröffentlicht in: | The Journal of pediatrics 1984-08, Vol.105 (2), p.247-251 |
|---|---|
| Hauptverfasser: | , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 251 |
|---|---|
| container_issue | 2 |
| container_start_page | 247 |
| container_title | The Journal of pediatrics |
| container_volume | 105 |
| creator | Anderson, Carol E. Finklestein, Jerry Z. Nussbaum, Eliezer Larson, Eunice J. Halpern, Roy Uitto, Jouni Tanaka, Kouichi R. |
| description | Three of four siblings born to nonconsanguineous parents of Italian origin were affected with severe congenital hemolytic anemia of unknown cause, and early-onset pulmonary emphysema. Two of the three affected siblings died of septic shock after splenectomy, at the ages of 7 and 3 1/2 years, respectively. The remaining affected sibling was shown to have cutis laxa and severe pulmonary emphysema at 15 years of age. Assay of serum components indicated that α
1-antitrypsin and α
2-macroglobulin levels were normal or slightly elevated. However, there was markedly elevated activity of an elastase-like serum enzyme. The relation of the hemolytic anemia to the pulmonary findings in this family is not clear; pedigree analysis suggests a recessively inherited defect. |
| doi_str_mv | 10.1016/S0022-3476(84)80121-3 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_81177538</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0022347684801213</els_id><sourcerecordid>81177538</sourcerecordid><originalsourceid>FETCH-LOGICAL-c304t-bcda68e02170827db78a827aee4793237b8b119925bc7544d61991d0618c860a3</originalsourceid><addsrcrecordid>eNqFkE1rGzEQhkVpcB23P8GgQynJYZPRSrvSnkow-YJADmnOQqsd1yq7K1ezLvjfV4mNrzkNwzwjvfMwthRwJUDU1y8AZVlIpesLoy4NiFIU8hObC2h0URspP7P5CfnCzon-AECjAGZsVmuldVXN2esNUfTBTSGOPK75BofY76fguRtxCC6XjqNL_b6II-HEt7t-iKNLe47DdrMnHBwPI582CZFTaPsw_qav7GztesJvx7pgr3e3v1YPxdPz_ePq5qnwEtRUtL5ztUEohQZT6q7VxuXqEJVuZCl1a1ohmqasWq8rpbo6N6KDWhhvanBywX4c3t2m-HeHNNkhkMe-z-HjjqwRIp8pTQarA-hTJEq4ttsUhnyFFWDfdNp3nfbNlTXKvuu0Mu8tjx_s2gG709bRX55_P84dedevkxt9oBNmGlnlyBn7ecAwy_gXMFnyAUePXUjoJ9vF8EGQ_yAJkRI</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>81177538</pqid></control><display><type>article</type><title>Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><creator>Anderson, Carol E. ; Finklestein, Jerry Z. ; Nussbaum, Eliezer ; Larson, Eunice J. ; Halpern, Roy ; Uitto, Jouni ; Tanaka, Kouichi R.</creator><creatorcontrib>Anderson, Carol E. ; Finklestein, Jerry Z. ; Nussbaum, Eliezer ; Larson, Eunice J. ; Halpern, Roy ; Uitto, Jouni ; Tanaka, Kouichi R.</creatorcontrib><description>Three of four siblings born to nonconsanguineous parents of Italian origin were affected with severe congenital hemolytic anemia of unknown cause, and early-onset pulmonary emphysema. Two of the three affected siblings died of septic shock after splenectomy, at the ages of 7 and 3 1/2 years, respectively. The remaining affected sibling was shown to have cutis laxa and severe pulmonary emphysema at 15 years of age. Assay of serum components indicated that α
1-antitrypsin and α
2-macroglobulin levels were normal or slightly elevated. However, there was markedly elevated activity of an elastase-like serum enzyme. The relation of the hemolytic anemia to the pulmonary findings in this family is not clear; pedigree analysis suggests a recessively inherited defect.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/S0022-3476(84)80121-3</identifier><identifier>PMID: 6747755</identifier><identifier>CODEN: JOPDAB</identifier><language>eng</language><publisher>New York, NY: Mosby, Inc</publisher><subject>Adolescent ; Anemia, Hemolytic, Congenital - complications ; Anemia, Hemolytic, Congenital - genetics ; Anemias. Hemoglobinopathies ; Biological and medical sciences ; Child ; Child, Preschool ; Cutis Laxa - complications ; Cutis Laxa - genetics ; Diseases of red blood cells ; Female ; Hematologic and hematopoietic diseases ; Humans ; Italy - ethnology ; Male ; Medical sciences ; Pedigree ; Pulmonary Emphysema - complications ; Pulmonary Emphysema - genetics ; Respiratory Function Tests ; Shock, Septic - etiology ; Splenectomy - adverse effects ; United States</subject><ispartof>The Journal of pediatrics, 1984-08, Vol.105 (2), p.247-251</ispartof><rights>1984 The C. V. Mosby Company</rights><rights>1985 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c304t-bcda68e02170827db78a827aee4793237b8b119925bc7544d61991d0618c860a3</citedby><cites>FETCH-LOGICAL-c304t-bcda68e02170827db78a827aee4793237b8b119925bc7544d61991d0618c860a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/S0022-3476(84)80121-3$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8935199$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/6747755$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Anderson, Carol E.</creatorcontrib><creatorcontrib>Finklestein, Jerry Z.</creatorcontrib><creatorcontrib>Nussbaum, Eliezer</creatorcontrib><creatorcontrib>Larson, Eunice J.</creatorcontrib><creatorcontrib>Halpern, Roy</creatorcontrib><creatorcontrib>Uitto, Jouni</creatorcontrib><creatorcontrib>Tanaka, Kouichi R.</creatorcontrib><title>Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>Three of four siblings born to nonconsanguineous parents of Italian origin were affected with severe congenital hemolytic anemia of unknown cause, and early-onset pulmonary emphysema. Two of the three affected siblings died of septic shock after splenectomy, at the ages of 7 and 3 1/2 years, respectively. The remaining affected sibling was shown to have cutis laxa and severe pulmonary emphysema at 15 years of age. Assay of serum components indicated that α
1-antitrypsin and α
2-macroglobulin levels were normal or slightly elevated. However, there was markedly elevated activity of an elastase-like serum enzyme. The relation of the hemolytic anemia to the pulmonary findings in this family is not clear; pedigree analysis suggests a recessively inherited defect.</description><subject>Adolescent</subject><subject>Anemia, Hemolytic, Congenital - complications</subject><subject>Anemia, Hemolytic, Congenital - genetics</subject><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cutis Laxa - complications</subject><subject>Cutis Laxa - genetics</subject><subject>Diseases of red blood cells</subject><subject>Female</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Italy - ethnology</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Pedigree</subject><subject>Pulmonary Emphysema - complications</subject><subject>Pulmonary Emphysema - genetics</subject><subject>Respiratory Function Tests</subject><subject>Shock, Septic - etiology</subject><subject>Splenectomy - adverse effects</subject><subject>United States</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1984</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1rGzEQhkVpcB23P8GgQynJYZPRSrvSnkow-YJADmnOQqsd1yq7K1ezLvjfV4mNrzkNwzwjvfMwthRwJUDU1y8AZVlIpesLoy4NiFIU8hObC2h0URspP7P5CfnCzon-AECjAGZsVmuldVXN2esNUfTBTSGOPK75BofY76fguRtxCC6XjqNL_b6II-HEt7t-iKNLe47DdrMnHBwPI582CZFTaPsw_qav7GztesJvx7pgr3e3v1YPxdPz_ePq5qnwEtRUtL5ztUEohQZT6q7VxuXqEJVuZCl1a1ohmqasWq8rpbo6N6KDWhhvanBywX4c3t2m-HeHNNkhkMe-z-HjjqwRIp8pTQarA-hTJEq4ttsUhnyFFWDfdNp3nfbNlTXKvuu0Mu8tjx_s2gG709bRX55_P84dedevkxt9oBNmGlnlyBn7ecAwy_gXMFnyAUePXUjoJ9vF8EGQ_yAJkRI</recordid><startdate>198408</startdate><enddate>198408</enddate><creator>Anderson, Carol E.</creator><creator>Finklestein, Jerry Z.</creator><creator>Nussbaum, Eliezer</creator><creator>Larson, Eunice J.</creator><creator>Halpern, Roy</creator><creator>Uitto, Jouni</creator><creator>Tanaka, Kouichi R.</creator><general>Mosby, Inc</general><general>Elsevier</general><scope>IQODW</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>7X8</scope></search><sort><creationdate>198408</creationdate><title>Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings</title><author>Anderson, Carol E. ; Finklestein, Jerry Z. ; Nussbaum, Eliezer ; Larson, Eunice J. ; Halpern, Roy ; Uitto, Jouni ; Tanaka, Kouichi R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c304t-bcda68e02170827db78a827aee4793237b8b119925bc7544d61991d0618c860a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1984</creationdate><topic>Adolescent</topic><topic>Anemia, Hemolytic, Congenital - complications</topic><topic>Anemia, Hemolytic, Congenital - genetics</topic><topic>Anemias. Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cutis Laxa - complications</topic><topic>Cutis Laxa - genetics</topic><topic>Diseases of red blood cells</topic><topic>Female</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Humans</topic><topic>Italy - ethnology</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Pedigree</topic><topic>Pulmonary Emphysema - complications</topic><topic>Pulmonary Emphysema - genetics</topic><topic>Respiratory Function Tests</topic><topic>Shock, Septic - etiology</topic><topic>Splenectomy - adverse effects</topic><topic>United States</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Anderson, Carol E.</creatorcontrib><creatorcontrib>Finklestein, Jerry Z.</creatorcontrib><creatorcontrib>Nussbaum, Eliezer</creatorcontrib><creatorcontrib>Larson, Eunice J.</creatorcontrib><creatorcontrib>Halpern, Roy</creatorcontrib><creatorcontrib>Uitto, Jouni</creatorcontrib><creatorcontrib>Tanaka, Kouichi R.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Anderson, Carol E.</au><au>Finklestein, Jerry Z.</au><au>Nussbaum, Eliezer</au><au>Larson, Eunice J.</au><au>Halpern, Roy</au><au>Uitto, Jouni</au><au>Tanaka, Kouichi R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>1984-08</date><risdate>1984</risdate><volume>105</volume><issue>2</issue><spage>247</spage><epage>251</epage><pages>247-251</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><coden>JOPDAB</coden><abstract>Three of four siblings born to nonconsanguineous parents of Italian origin were affected with severe congenital hemolytic anemia of unknown cause, and early-onset pulmonary emphysema. Two of the three affected siblings died of septic shock after splenectomy, at the ages of 7 and 3 1/2 years, respectively. The remaining affected sibling was shown to have cutis laxa and severe pulmonary emphysema at 15 years of age. Assay of serum components indicated that α
1-antitrypsin and α
2-macroglobulin levels were normal or slightly elevated. However, there was markedly elevated activity of an elastase-like serum enzyme. The relation of the hemolytic anemia to the pulmonary findings in this family is not clear; pedigree analysis suggests a recessively inherited defect.</abstract><cop>New York, NY</cop><pub>Mosby, Inc</pub><pmid>6747755</pmid><doi>10.1016/S0022-3476(84)80121-3</doi><tpages>5</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-3476 |
| ispartof | The Journal of pediatrics, 1984-08, Vol.105 (2), p.247-251 |
| issn | 0022-3476 1097-6833 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_81177538 |
| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Adolescent Anemia, Hemolytic, Congenital - complications Anemia, Hemolytic, Congenital - genetics Anemias. Hemoglobinopathies Biological and medical sciences Child Child, Preschool Cutis Laxa - complications Cutis Laxa - genetics Diseases of red blood cells Female Hematologic and hematopoietic diseases Humans Italy - ethnology Male Medical sciences Pedigree Pulmonary Emphysema - complications Pulmonary Emphysema - genetics Respiratory Function Tests Shock, Septic - etiology Splenectomy - adverse effects United States |
| title | Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-26T09%3A33%3A01IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Association%20of%20hemolytic%20anemia%20and%20early-onset%20pulmonary%20emphysema%20in%20three%20siblings&rft.jtitle=The%20Journal%20of%20pediatrics&rft.au=Anderson,%20Carol%20E.&rft.date=1984-08&rft.volume=105&rft.issue=2&rft.spage=247&rft.epage=251&rft.pages=247-251&rft.issn=0022-3476&rft.eissn=1097-6833&rft.coden=JOPDAB&rft_id=info:doi/10.1016/S0022-3476(84)80121-3&rft_dat=%3Cproquest_cross%3E81177538%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=81177538&rft_id=info:pmid/6747755&rft_els_id=S0022347684801213&rfr_iscdi=true |