The New England journal of medicine, 2013-07, Vol.369 (4), p.351-361
2013
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- Autor(en) / Beteiligte
- Titel
- A Novel Channelopathy in Pulmonary Arterial Hypertension
- Ist Teil von
- The New England journal of medicine, 2013-07, Vol.369 (4), p.351-361
- Ort / Verlag
- Waltham, MA: Massachusetts Medical Society
- Erscheinungsjahr
- 2013
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- In a family with pulmonary arterial hypertension, whole-exome sequencing led to identification of a mutation in the potassium-channel gene KCNK3 . Additional mutations resulting in loss of function of the channel were found in other families and in patients with idiopathic disease. Pulmonary arterial hypertension is a rare disease that is characterized by increased pulmonary-artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. 1 Before the advent of novel therapies, patients with idiopathic or familial pulmonary arterial hypertension had an estimated median survival of 2.8 years, with 1-year, 3-year, and 5-year survival rates of 68%, 48%, and 34%, respectively. 2 However, despite progress in treatment, pulmonary arterial hypertension remains a progressive, fatal disease. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course. The cause of pulmonary . . .
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0028-4793eISSN: 1533-4406DOI: 10.1056/NEJMoa1211097Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3792227
- Format
- –
- Schlagworte
- Amino Acid Sequence, Biological and medical sciences, Bone morphogenetic protein receptor type II, Calcium channels (voltage-gated), Causes of, Channelopathies - drug therapy, Channelopathies - genetics, Channelopathy, Chlorobenzoates - therapeutic use, Cinnamates - therapeutic use, Drug therapy, Exome, Familial Primary Pulmonary Hypertension, Female, General aspects, Genes, Genetic aspects, Genetic Predisposition to Disease, Genetic variation, Heterozygote, Humans, Hypertension, Hypertension, Pulmonary - drug therapy, Hypertension, Pulmonary - genetics, Lung - pathology, Male, Medical sciences, Missense mutation, Molecular Sequence Data, Mutation, Mutation, Missense, Nerve Tissue Proteins - chemistry, Nerve Tissue Proteins - genetics, Nerve Tissue Proteins - physiology, ortho-Aminobenzoates - therapeutic use, Pedigree, Phospholipase, Pneumology, Potassium channels, Potassium Channels, Tandem Pore Domain - chemistry, Potassium Channels, Tandem Pore Domain - genetics, Potassium Channels, Tandem Pore Domain - physiology, Proteins, Pulmonary hypertension, Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases, Sequence Analysis, DNA