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

Year: 2020

Type: article

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.

Source: Platelets

DOI: 10.1080/09537104.2020.1755644

Authors: Christopher S. Thom, Erik Brandsma, Michele P. Lambert

Institution: Children's Hospital of Philadelphia

Language: English

Topic: Platelet Disorders and Treatments

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: American Academy of Pediatrics, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development