Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?
| Autor: | Peter H. Gray, Michael T. Gabbett, Cassandra J. Jeavons |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
Metaphyseal chondrodysplasia Parathyroid hormone Osteochondrodysplasias Severity of Illness Index Normal results Internal medicine Genetics medicine Humans Genetics (clinical) Hyperparathyroidism Parathyroid Hormone Receptor 1 Pathogenic mutation business.industry Infant Newborn Parathyroid Hormone-Related Protein medicine.disease Prognosis Blood pressure homeostasis Endocrinology Dysplasia Hypertension Mutation Female business |
| Zdroj: | American journal of medical genetics. Part AREFERENCES. 182(4) |
| ISSN: | 1552-4833 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text