Heritable forms of hypertension
نویسندگان
چکیده
منابع مشابه
Heritable pulmonary hypertension: from bench to bedside.
Mutations in the BMPR2 gene, and more rarely in ACVRL1, endoglin, caveolin-1, KCNK3 and TBX4 genes predispose to heritable pulmonary arterial hypertension, an autosomal dominant disease with incomplete penetrance. Bi-allelic mutations in the EIF2AK4 gene predispose to heritable pulmonary veno-occlusive disease/pulmonary capillary haemangiomatosis, an autosomal recessive disease with an unknown ...
متن کاملSpleen size in idiopathic and heritable pulmonary arterial hypertension.
BACKGROUND It is unknown whether the spleen size correlates with disease severity and outcome in patients with idiopathic and heritable pulmonary arterial hypertension (PAH). OBJECTIVES To determine the prevalence of splenomegaly in PAH and assess whether it correlates with severity of disease and outcome. METHODS We identified subjects with either heritable or idiopathic PAH who had Dopple...
متن کاملSerotonin 2B Receptor Antagonism Prevents Heritable Pulmonary Arterial Hypertension
Serotonergic anorexigens are the primary pharmacologic risk factor associated with pulmonary arterial hypertension (PAH), and the resulting PAH is clinically indistinguishable from the heritable form of disease, associated with BMPR2 mutations. Both BMPR2 mutation and agonists to the serotonin receptor HTR2B have been shown to cause activation of SRC tyrosine kinase; conversely, antagonists to ...
متن کاملHeritable pulmonary arterial hypertension with elevated pulmonary wedge pressure.
A 50-year-old man, who is an active smoker without a previous medical history, was admitted for recent dyspnea (New York Heart Association functional class III) and an episode of exertional syncope. His familial history included the sudden death of his mother at the age of 50. His blood pressure was 123/90 mm Hg; heart rate, 80 beats/min; peripheral oxygen saturation, 95%; and clinical examinat...
متن کاملBone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension.
Mutations in the gene encoding bone morphogenetic protein (BMP) receptor type 2 (BMPR-2) have been reported in pulmonary arterial hypertension (PAH), but their functional relevance remains incompletely understood. BMP receptor expression was evaluated in human lungs and in cultured pulmonary artery smooth muscle cells (PASMCs) isolated from 19 idiopathic PAH patients and nine heritable PAH pati...
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ژورنال
عنوان ژورنال: Pediatric Nephrology
سال: 2009
ISSN: 0931-041X,1432-198X
DOI: 10.1007/s00467-007-0537-8