Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?

Autor: Gabbett MT; School of Biomedical Sciences and Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland, Australia.; Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia.; Genetic Health Queensland, Metro North Hospital and Health Service, Brisbane, Queensland, Australia., Jeavons CJ; Genetic Health Queensland, Metro North Hospital and Health Service, Brisbane, Queensland, Australia.; Department of Medical Imaging, Children's Health Queensland, Brisbane, Queensland, Australia., Gray PH; Newborn Services, Mater Health Services, Brisbane, Queensland, Australia.; Mater Medical Research Institute, Brisbane, Queensland, Australia.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 768-772. Date of Electronic Publication: 2020 Jan 24.
DOI: 10.1002/ajmg.a.61494
Abstrakt: Jansen metaphyseal chondrodysplasia (JMC) is a rare autosomal dominant skeletal dysplasia caused by gain-of-function mutations in the parathyroid hormone receptor 1 gene, PTH1R. We report on a patient presenting in the neonatal period with clinical signs of JMC in addition to severe hypertension. A pathogenic mutation in PTH1R was demonstrated, but investigations for hypertension yielded normal results. Hypertension has not been previously associated with JMC. Given aberration of the parathyroid hormone (PTH)/parathyroid-related protein pathway is the underlying pathogenic mechanism attributed to JMC, and also given evidence that hyperparathyroidism plays an important role in blood pressure homeostasis, we propose that hypertension is a hitherto unrecognized feature of JMC.
(© 2020 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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