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Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics
Joint Authors
Wilson, Rachel
Syed, Nausheen
Shah, Prabodh
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-02-29
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
The association of mutations in the PHD2 protein of the hypoxia-sensing pathway and erythrocytosis has only been established in the last decade.
Here we report the case of a novel PHD2 gene mutation in a patient with erythrocytosis and summarize all reported cases to date.
Case Report.
A 55-year-old man presented with dyspnea and a previous diagnosis of idiopathic erythrocytosis.
PHD gene sequencing revealed a mutation on exon 2.
The mutation was recognized as p.(Trp 334 ⁎ ) (c.
1001G>A) resulting in a truncation of a highly conserved amino acid residue in catalytic domain.
A diagnosis of erythrocytosis secondary to mutant PHD2 gene was made.
Conclusions.
Our findings indicate that with PHD2 mutations there is moderate erythrocytosis and erythropoietin (Epo) levels are generally low to normal.
Two patients with PHD2 substitution mutations were found to have paraganglioma and one of these patients had a concurrent pheochromocytoma.
In addition, one mutation was associated with sagittal sinus thrombosis.
Given the severity of some of the clinical features of these mutations, we conclude that clinical guidelines should include the PHD2 mutation in the idiopathic erythrocytosis workup.
American Psychological Association (APA)
Wilson, Rachel& Syed, Nausheen& Shah, Prabodh. 2016. Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics. Case Reports in Hematology،Vol. 2016, no. 2016, pp.1-8.
https://search.emarefa.net/detail/BIM-1100869
Modern Language Association (MLA)
Wilson, Rachel…[et al.]. Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics. Case Reports in Hematology No. 2016 (2016), pp.1-8.
https://search.emarefa.net/detail/BIM-1100869
American Medical Association (AMA)
Wilson, Rachel& Syed, Nausheen& Shah, Prabodh. Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics. Case Reports in Hematology. 2016. Vol. 2016, no. 2016, pp.1-8.
https://search.emarefa.net/detail/BIM-1100869
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100869