Case Report
Version 1
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Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report
Version 1
: Received: 15 February 2020 / Approved: 18 February 2020 / Online: 18 February 2020 (02:47:09 CET)
How to cite: Thom, C. S.; Brandsma, E.; Lambert, M. P. Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report. Preprints 2020, 2020020252. https://doi.org/10.20944/preprints202002.0252.v1 Thom, C. S.; Brandsma, E.; Lambert, M. P. Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report. Preprints 2020, 2020020252. https://doi.org/10.20944/preprints202002.0252.v1
Abstract
Mutations in the calcium channel gene Transient Receptor Potential cation channel subfamily V member 4 (TRPV4) cause autosomal dominant skeletal dysplasia, with phenotypes ranging from mild to perinatal lethality. A recent report detailed murine thrombocytosis in the absence of functional TRPV4, but no prior reports have described platelet count abnormalities in the context of human TRPV4 disease. Here, we report a case of prolonged thrombocytosis in the context of TRPV4-associated metatropic dysplasia that was lethal in the infantile period.
Keywords
thrombocytosis; skeletal dysplasia; TRPV4; calcium channel
Subject
Medicine and Pharmacology, Pediatrics, Perinatology and Child Health
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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