| Worsening of the clinical-hematological picture in a patient with a rare PK-LR compound heterozygosis after mitral replacement. | |
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MedLine Citation:
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PMID: 21821016 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report a case of a patient affected by compound heterozygosis for two PK-LR gene mutations: p.R486W (c.1456C>T) and p.M403I (c.1209G>A). Our patient suffered from an initial moderate hemolytic anemia which subsequently evolved into a severe form after mitral prosthetic valve replacement for valve regurgitation. Thereafter, the clinical features evolved into a worsening of anemia, heart failure and pulmonary hypertension, in the absence of valve dysfunction. This clinical picture improved only after an intensive transfusion regimen. This case highlights aspects concerning the intricate balance between the risks and benefits of a mechanical prosthetic valve implant in PK-deficient patients. |
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Authors:
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Angelo Minucci; Bianca Maria Ricerca; Domenico Tripodi; Lucia Matarazzo; Teresa De Michele; Bruno Giardina; Cecilia Zuppi; Ettore Capoluongo |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-7-26 |
Journal Detail:
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Title: Clinical biochemistry Volume: - ISSN: 1873-2933 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-8-8 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0133660 Medline TA: Clin Biochem Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Inc. |
Affiliation:
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Laboratory of Clinical Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of the Sacred Heart, Rome, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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