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

The study concerns 105 cases of dominant polycystic kidney disease. Affected relatives were observed in 65% of patients. The clinical features that leads to diagnosis were lumbar pain in 37.5% of cases, renal failure in 24.6% of cases and hypertension in 15.1% of cases. Hypertension was observed in 46.7% of cases and it seems that its onset is independent of chronic renal failure. Its frequency is of 55.1% when only kidneys were affected and of 21.4% when the liver was affected too. The progression of chronic renal failure is influenced by hypertension.
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PMID:[Dominant polycystic renal disease. Study of 105 cases]. 134 29

It is now clear that mutations of at least two genetic loci can lead to autosomal dominant polycystic kidney disease (ADPKD). We have compared the clinical features of ADPKD caused by mutations at the PKD1 locus (linked to the alpha-globin complex on chromosome 16) with those of disease not linked to the locus (non-PKD1). We identified 18 families (285 affected members) with mutations at PKD1 and 5 families (49 affected individuals) in which involvement of this locus could be dismissed. Non-PKD1 patients lived longer than PKD1 patients (median survival 71.5 vs 56.0 years), had a lower risk of progressing to renal failure (odds ratio 0.35, 95% CI 0.13-0.92), were less likely to have hypertension (odds ratio adjusted for age and family of origin 0.29, 0.11-0.80), were diagnosed at an older age (median 69.1 vs 44.8 years), and had fewer renal cysts at the time of diagnosis. Although most of the PKD1 families were ascertained through clinics treating patients with renal impairment, no non-PKD1 family was identified through this source. Non-PKD1 ADPKD has a much milder phenotype than that linked to PKD1. Partly as a result of this difference in severity, the reported prevalence of this genotype is probably an underestimate.
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PMID:Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. 136 45

The literature on the association of intracranial aneurysms in autosomal dominant polycystic kidney disease (ADPKD) consists mainly of case reports and small series of patients. To provide a more-detailed description of this association and its frequency, the records of all ADPKD patients with saccular intracranial aneurysms, all ADPKD autopsy cases including brain examination, and sex- and age-matched autopsy cases without ADPKD seen at the Mayo Clinic between 1950 and 1989 and of all Rochester residents with a diagnosis of subarachnoid hemorrhage or ADPKD between 1945 and 1984 were reviewed. The presentation of the 41 patients (22 men and 19 women; mean age, 46.4 yr) with this association was subarachnoid hemorrhage in 33, transient ischemic attacks in 2, incidental angiographic or autopsy finding in 5, and discovery during angiographic screening in 1. Thirty-one, seven, and three patients harbored one, two, and three aneurysms, respectively, arising from the middle cerebral artery (N = 23), anterior communicating artery (N = 16), internal carotid artery (N = 11), and vertebral or basilar artery (N = 4). A family history of intracranial aneurysm, subarachnoid hemorrhage, or intracranial hemorrhage at an early age was present in 22% of the patients. Small aneurysms (less than 5 mm) were less likely to have ruptured or caused symptoms (P less than 0.04). There was a trend for hypertension to be associated with the severity of the subarachnoid hemorrhage. Aneurysmal rupture occurred before age 50 in 64% of patients. Of the 89 ADPKD autopsy cases with brain examination, 22.5% had intracranial aneurysms.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Saccular intracranial aneurysms in autosomal dominant polycystic kidney disease. 139 12

An infant who presented with a unilateral renal cystic process underwent nephrectomy due to hypertension. There was no evidence of any other disease process. Family history and investigation were negative for renal cystic disease or other genetic disease process. The pathology most resembled autosomal dominant polycystic kidney disease or a specific entity described as unilateral renal cystic disease.
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PMID:Unilateral renal cystic disease: a case presentation. 140 40

Evidence suggests an important role for the renin-angiotensin system in the pathogenesis of autosomal-dominant polycystic kidney disease (ADPKD). Therefore, we studied the presence of immunoreactive renin in renal biopsies and measured the concentrations of renin in cyst fluids. Normal kidneys and kidneys with renal artery stenosis were used for comparison. In ADPKD, immunoreactive renin was present in juxtaglomerular apparatus, associated arterioles, and in some cells within the connective tissue surrounding the cysts. Vascular immunoreactive renin was less prominent than in renal artery stenosis. Increased amounts of tubular immunoreactive renin were noted in polycystic kidneys, as compared to normal kidneys and kidneys with renal artery stenosis. Cyst fluids contained renin detected by Western analysis and enzymatic activity; concentrations were greater in gradient cysts than in nongradient cysts. Seventy-four percent of the renin in gradient cysts was active as compared to 23% in nongradient cysts and 15% in plasma. To determine whether cyst epithelial cells are capable of synthesizing renin, these cells were isolated in tissue culture. Enzymatic assay of extracts from these cells revealed the presence of renin-like enzymatic activity (1.3 +/- 0.8 ng AI/mg protein/hr). The synthesis of renin by tubulocystic epithelium was confirmed by [35S]-methionine radiolabeling of cyst-derived cells, followed by immunoprecipitation and SDS-PAGE and by detection of renin mRNA by the polymerase chain reaction. These results indicate that the tubulocystic epithelium has the potential to synthesize renin. Elevated levels of active renin in renal cysts may be linked to the pathogenesis of hypertension in ADPKD. The occurrence of renin in the lining epithelium of cyst walls raises the possibility that abnormal expression of the renin-angiotensin system may, by a paracrine or autocrine mechanism, regulate epithelial hyperplasia in growing renal cysts.
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PMID:Synthesis of renin by tubulocystic epithelium in autosomal-dominant polycystic kidney disease. 140 19

The effect of hypertension on the rate of progression of renal failure was analyzed in 26 patients with autosomal dominant polycystic kidney disease relating the slopes of progression (linear regression of the reciprocal serum creatinine on time) with the average mean arterial pressure, systolic and diastolic pressure, derived over the entire follow-up period for each patient. Hypertension was found in 19 of the 26 patients. Using simple linear regression, there was no significant correlation between the two variables in any case. Using polynomial regression (quadratic and cubic), this relationship fits a sigmoid (for diastolic pressure) or a negative parabolic curve (for mean arterial pressure and systolic pressure); i.e. the lowest and the highest values of mean arterial pressure and systolic pressure were associated with faster rates of progression. Thus, an appropriate model to study this relationship is not the linear but the polynomial regression.
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PMID:Shape of the relationship between hypertension and the rate of progression of renal failure in autosomal dominant polycystic kidney disease. 143 92

Nine hypertensive children (mean age: 5.0 years (SD: 4.5), range: 10 months to 15 years) were administered nifedipine (capsule) rectally (0.2 to 0.5 mg/kg) when their blood pressures were over 170 mmHg systolic and/or over 110 mmhg diastolic, independent of their ages. The causes of hypertension were acute glomerulonephritis (n = 2), chronic glomerulonephritis (n = 2), renovascular hypertension (n = 4), and polycystic kidney (n = 1). Both systolic and diastolic blood pressures fell in all children after rectal administration of nifedipine, although the response of blood pressure was weak in one child with renovascular hypertension. Blood pressures were lowest at 30 to 60 minutes, and remained under 140 mmHg systolic and 80 mmHg diastolic at least for three hours. Side-effects were headache in one child, palpitations in two children, and facial flushing in three. All of these symptoms were mild, and no special treatment was required. These findings suggest that rectal administration of nifedipine may be effective and the most reliable way to treat young children with severe or urgent hypertension.
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PMID:Rectal administration of perforated nifedipine capsules in acute severe hypertension in children. 145 94

Thirteen Spanish families with autosomal dominant polycystic kidney disease were studied. In one family the disease did not segregate with polymorphic markers around the PKD1 locus. All subjects over the age of 30 years carrying a mutation at the PKD1 locus showed renal ultrasonographic cysts, but 40% of carriers of the PKD1 mutation younger than 30 years did not have renal cysts. Hypertension was found to be more frequent in those with renal cysts. Recombinants between 16p polymorphic loci and the PKD1 locus are described.
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PMID:Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1). 158 43

Autosomal-dominant polycystic kidney disease results in renal failure at a varying age from childhood to old age. We postulated that factors other than the culprit gene alone contribute to the course of progression of the renal failure. We studied 580 subjects with autosomal-dominant polycystic kidney disease and 194 unaffected family members. We calculated survival curves to end-stage renal failure or death and developed a linear model for testing the effects of single or multiple variables on the progression of renal failure as estimated from the reciprocal of serum creatinine. Fifty-two subjects died and 94 reached end-stage renal failure during the period of observation, yielding functional survivals of 71% at age 50 years, 53% at 58 years and 23% at 70 years. The following variables were independently associated with worse mean renal function at a given age (P value less than 0.01): the PKD1 gene, younger age at diagnosis, male gender, hypertension, increased left ventricular mass, hepatic cysts in women, three or more pregnancies, gross hematuria, urinary tract infections in men and renal size expressed as renal volume. The following were not associated significantly with the course of renal function: gender of affected parent, mitral valve prolapse, intracranial aneurysms, any pregnancy, hepatic cysts in men and urinary tract infections in women. The identification of unalterable maleficent factors such as the PKD1 gene and male gender permit more informed counseling while the identification of alterable factors such as hypertension, number of pregnancies and recurrent urinary tract infections provides the clinician with the opportunity to modify these factors and improve the management of patients with autosomal-dominant polycystic kidney disease.
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PMID:Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. 161 46

The pathogenic basis of the association between adult polycystic kidney disease (APKD) and cerebral aneurysms is unknown. We have compared cerebral aneurysms in 79 patients with APKD gleaned from the literature to the sporadic aneurysm cases reported by the Cooperative Study to determine if there are significant biological differences between these two groups. Sixty-eight patients had a single aneurysm and 11 (14%) had multiple aneurysms. In APKD patients with subarachnoid hemorrhage from a single aneurysm there was a significant over-representation of males (72%, p less than 0.01); and the APKD group had more aneurysms of the middle cerebral artery (37%, p less than 0.05). The peak decennial incidence and mean age of rupture of APKD-associated aneurysms was younger (mean age 39.7 years, p less than 0.01) and over 77% of APKD-associated aneurysms had ruptured by age 50 versus 42% for sporadic aneurysms (p less than 0.001). Cerebral aneurysms co-existed with APKD in the absence of hypertension in 25% of 45 cases where the presence or absence of hypertension was recorded. These biological differences and the occurrence of aneurysms in normotensive APKD patients suggests an etiology which may be independent of hypertension and that APKD-associated aneurysms may be genetically determined. It is hypothesized that cases of inherited, familial cerebral aneurysms could be linked to a genetic defect resembling that which occurs on chromosome 16 in APKD.
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PMID:Cerebral aneurysms and polycystic kidney disease: a critical review. 162 50


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