Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Middle aortic syndrome is increasingly recognized as a cause of hypertension in adolescents and young adults. Alagille syndrome is a genetic disorder characterized by hepatic, eye, and bony abnormalities. Cardiovascular lesions occur in most of the patients, but narrowing of the abdominal aorta has not been previously recorded. We present an unusual association between middle aortic syndrome and Alagille syndrome, with a similar vascular lesion seen in two generations.
 ...
PMID:Middle aortic syndrome in a boy with arteriohepatic dysplasia (Alagille syndrome). 914 19

Alagille syndrome (AS) is characterized by the association of at least three of the following five abnormalities: chronic cholestasis, peripheral pulmonary artery stenosis, vertebral arch defects, embryotoxon, and typical facies. In addition to urological abnormalities, tubulointerstitial nephritis, renal tubular acidosis, and mesangiolipidosis have been noted in AS. The usual manifestations of such renal pathologies rarely include hypertension. We report five patients with at least four of the five major features of AS who developed secondary hypertension of renovascular origin 3.5-28 years after the initial diagnosis of AS. Angiography demonstrated uni- or bilateral renal artery stenosis and various other abnormalities of the main arteries in all five patients: aorta (3 cases), celiac artery (4 cases), superior mesenteric artery (1 case), subclavian artery (1 case). Our findings underscore the value of arterial blood pressure monitoring in patients with AS. If hypertension occurs, a renovascular origin should be sought. The diffuse vascular abnormalities which appeared to be a feature of AS in these patients should prompt larger studies of vascular abnormalities in AS.
 ...
PMID:Renovascular hypertension and vascular anomalies in Alagille syndrome. 954 69

Structural cardiac defects such as peripheral pulmonary stenosis are well-described in Alagille syndrome (AS), which is transmitted in an autosomal dominant inheritance. The genetic defect, with incomplete penetrance and variable expression, is localized to the short arm of chromosome 20. Abdominal coarctation is an uncommon congenital anomaly, with a spectrum of symptoms that may range from hypertension, intermittent claudication to abdominal pain. The association of abdominal coarctation with AS is rarely described. We report such a patient who also had aberrations of the visceral vascular supply involving the celiac, splenic, and superior mesenteric arteries. The indications to treat the coarctation, and in the context of a patient with AS, in whom liver transplantation may be contemplated at some stage, merit discussion.
 ...
PMID:Abdominal coarctation and Alagille syndrome. 1087 78

Alagille syndrome is characterized by paucity of bile ducts leading to cholestasis and may be accompanied by renal and cardiovascular abnormalities. We report 42-years old patient with hypertension, chronic renal failure and Alagille syndrome. Ischemic nephropathy was suspected, which was not confirmed on angio-CT. It seems, that chronic renal failure in the patient was due to primary parenchymal pathology.
 ...
PMID:[Alagille syndrome and chronic renal failure]. 1476 81

A 12-year-old girl with Alagille syndrome manifested severe hypertension caused by renal artery stenosis in a solitary functioning kidney. Percutaneous transluminal angioplasty (PTA) and stenting was performed, but the hypertension persisted. On the next day, acute renal failure occurred with the administration of angiotensin-converting enzyme inhibitor, and migration of the stent was confirmed by angiography. Thus, a second stent was placed with success. Since then, the hypertension has been controlled with anti-hypertensive medication, and the renal function has recovered to normal range.
 ...
PMID:Successful stenting for renal artery stenosis in a patient with Alagille syndrome. 1577 39

Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation: Alagille syndrome is an autosomal dominant disorder involving liver, heart, eyes, face, skeleton, and other organs. Various renal abnormalities have also been associated with Alagille syndrome, whereas renal vascular hypertension combined with renal insufficiency has been reported in several cases. We describe a patient with a novel frameshift mutation (c.1880_1881insA) in the JAG1 gene who presented with chronic renal failure and hypertension but without evidence of renal vascular or aortic stenosis. The patient's chronic renal failure had persisted for several years. His high blood pressure seemed to be due to renal parenchymal changes and was treated with ACE-inhibitors without worsening his renal function. This novel JAG1 mutation revealed great variability of the phenotype. The patient's daughter suffered from severe paucity of intrahepatic bile ducts and received a liver transplant at the age of two years. These findings are discussed including a review of the literature.
 ...
PMID:Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation. 1601 21

Alagille syndrome is an autosomal dominant condition with incomplete penetrance that is associated mostly with hepatic, cardiac, and skeletal abnormalities. In addition, the association of Alagille syndrome with ocular abnormalities is well known and is considered one of the characteristic features of this condition. Most commonly, posterior embryotoxon, glaucoma, or retinopathy has been identified in these children. The authors present 2 patients with Alagille syndrome who, before the age of 3 years old, developed idiopathic intracranial hypertension with documented increased intracranial pressure by lumbar puncture and papilledema, which was responsive to acetazolamide.
 ...
PMID:Idiopathic intracranial hypertension in two patients with Alagille syndrome. 2050 86

The Notch signalling pathway is a highly conserved cell-cell signalling mechanism that plays a central role in the development and maturation of most vertebrate organs. In vertebrates, Notch receptors, several ligands, and components of the downstream signalling machinery are expressed in the vessel. Over the past decade, numerous studies have highlighted the critical role of the Notch pathway in the vasculature. The goal of this review is to summarize our current understanding of the contribution of Notch signalling in smooth muscle cells to vascular development and physiology. We further discuss the growing clinical importance of this pathway in human pathological conditions involving the vasculature, namely cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Alagille syndrome, and pulmonary arterial hypertension.
 ...
PMID:Notch signalling in smooth muscle cells during development and disease. 2226 53

Alagille syndrome is a rare congenital multisystem disorder that may involve heart disease and pulmonary or peripheral artery stenosis. We report the clinical and radiological presentation of five adult patients with Alagille syndrome, hypertension and renal artery stenosis. All had systolic hypertension and a narrowing of the abdominal aorta, corresponding to a secondary midaortic syndrome. Renovascular disease progressed during follow-up, with increases in blood pressure, decreases in glomerular filtration rate and/or kidney atrophy. A literature review identified several anecdotal reports of Alagille syndrome associated with hypertension, renal artery stenosis and/or midaortic syndrome. We discuss this condition, focusing on diagnosis, differential diagnosis, associated conditions and management. Cardiologists, nephrologists and radiologists should be aware of this rare cause of renovascular hypertension and of the need for clinical, biological and echographic follow-up.
 ...
PMID:Hypertension and aortorenal disease in Alagille syndrome. 2252 99

Alagille syndrome (ALGS) is an autosomal dominant disorder associated with cholestatic liver disease, pulmonary valvar stenosis or atresia, vasculopathy, and renal disease. Although the liver and cardiac manifestations contribute to overall morbidity and mortality during their life span, these patients also carry a burden of important but often underappreciated vascular abnormalities. This report describes a 3 year-old girl with Alagille syndrome, hepatic cholestasis, systemic hypertension, hypercholesterolemia, hypertriglyceridemia, and tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals (TOF/PA/MAPCAs). She presented for bilateral pulmonary artery plasty and central shunt upsizing. She then experienced three shunt dehiscence episodes, necessitating emergent intervention. Autopsy showed diffuse atherosclerosis and significant atherosclerotic plaque at the site of shunt dehiscence. This is the first reported case of ALGS with TOF/PA/MAPCAs and catastrophic shunt dehiscence due to significant generalized vasculopathy caused by dyslipidemia and atherosclerosis. Dyslipidemia, a known comorbidity in ALGS, is one of few modifiable risk factors that should be screened for and treated, particularly before cardiac surgery.
 ...
PMID:Atherosclerosis causing recurrent catastrophic aortopulmonary shunt dehiscence in a patient with Alagille syndrome. 2292 29


1 2 Next >>