Document Detail


Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene.
MedLine Citation:
PMID:  17852457     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Pearson syndrome is a rare mitochondrial disorder characterized by sideroblastic anemia, liver disease, renal tubulopathy and exocrine pancreas deficiency. OBSERVATIONS: We describe a female infant suffering from anemia since birth who gradually developed the complete picture of Pearson syndrome by 13 months. Iron overload was disproportionate to blood transfusions. The patient was heterozygous for HFE gene C282Y mutation (type I hemochromatosis). After an initial response to deferoxamine she presented with cutaneous zygomycosis and died after metabolic derangement and Pneumocystis jiroveci pneumonia. CONCLUSION: This is the second case of a Pearson syndrome individual who was also heterozygous for HFE gene mutation C282Y published. It is also the second case report of a Pearson patient suffering from severe iron overload and liver disease that responded to therapy with deferoxamine.
Authors:
Kalomoira Kefala-Agoropoulou; Emmanuel Roilides; Anna Lazaridou; Eliza Karatza; Evangelia Farmaki; Haido Tsantali; Persephone Augoustides-Savvopoulou; John Tsiouris
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hematology (Amsterdam, Netherlands)     Volume:  12     ISSN:  1607-8454     ISO Abbreviation:  Hematology     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2008-05-15     Completed Date:  2008-08-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9708388     Medline TA:  Hematology     Country:  England    
Other Details:
Languages:  eng     Pagination:  549-53     Citation Subset:  IM    
Affiliation:
3rd Department of Pediatrics, Hippokration Hospital, Aristotle University, Thessaloniki, Greece.
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MeSH Terms
Descriptor/Qualifier:
Anemia, Sideroblastic / complications*
Deferoxamine / therapeutic use
Fatal Outcome
Female
Hemochromatosis / complications*
Heterozygote
Histocompatibility Antigens Class I / genetics*
Humans
Infant
Iron Overload
Liver Diseases
Membrane Proteins / genetics*
Mitochondrial Diseases / complications*
Mutation, Missense*
Syndrome
Chemical
Reg. No./Substance:
0/HFE protein, human; 0/Histocompatibility Antigens Class I; 0/Membrane Proteins; 70-51-9/Deferoxamine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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