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Case Reports
. 2021 Apr 3;32(3):429-431.
doi: 10.1080/09537104.2020.1755644. Epub 2020 Apr 22.

Thrombocytosis in an infant with a TRPV4 mutation: a case report

Christopher S Thom  1 , Erik Brandsma  1 , Michele P Lambert  2
Affiliations
Case Reports

Thrombocytosis in an infant with a TRPV4 mutation: a case report

Christopher S Thom et al. Platelets. .

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 enhanced proplatelet formation and increased murine platelet count in the context of TRPV4 activation. No prior reports have described platelet count abnormalities in 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: Calcium channel; TRPV4; skeletal dysplasia; thrombocytosis.

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Conflict of interest statement

Disclosures of interest

The authors declare no relevant conflicts of interest.

Figures

Figure 1.
Figure 1.
Recorded platelet counts in this patient. Gray zone indicates normal reference range (150–400 ×1000 platelets per μl).
See this image and copyright information in PMC

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