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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the past 30 years 238 cases have been published which describe the nephronophthisiscystic renal medulla complex. Of these, 110 are sufficiently adequate to permit detailed analyses. Both isolated and genetically transmitted cases are reported. The latter include the dominant and recessive modalities, both autosomal, and the former perhaps also X-linked. Renal disease also has been inherited as a recessive trait in association with retinal degeneration. Medullary cysts have been found in 73% of cases in which kidney tissue has been examined directly. Their presence seems to bear no relationship to the ability of involved kidneys to conserve sodium. Salt wasting is described in the presence and absence of medullary cysts. Techniques short of anatomic examination of the kidneys have rarely allowed cysts to be detected and diagnosis continues to rest on a high index of suspicion, aroused in turn by a positive family history for the disease. Arterial hypertension occurs in roughly one third of cases. Aminoaciduria is not a part of the syndrome. A defect in maximum urinary concentrating ability may be the best single early sign of involvement but data are scarce.
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PMID:Juvenile nephronophthisis and renal medullary cystic disease. 126 65

The objective of our study was to determine the genetic influence on blood pressure in spontaneously hypertensive rats (SHR), and normotensive Wistar-Kyoto (WKY) rats using genetic crosses. Blood pressure was measured by tail sphygmomanometry from 8 to 20 weeks of age. Blood pressure was significantly higher from 12 to 20 weeks in the male offspring derived from WKY mothers x SHR fathers as compared with male offspring derived from SHR mothers X WKY fathers (180 +/- 4 versus 160 +/- 5 mm Hg, p less than 0.01). There was no significant difference between the blood pressure of the F1 females, further supporting Y chromosome linkage and not parental imprinting. The blood pressure data from F2 males derived from reciprocal crosses of parental strains were consistent with the presence of a Y-linked locus, but not with an X-linked locus controlling blood pressure. The data strongly suggest that hypertension in the SHR has two primary components of equal magnitude, one consisting of a small number of autosomal loci with a second Y-linked component.
Hypertension 1990 Sep
PMID:Hypertension in the spontaneously hypertensive rat is linked to the Y chromosome. 239 86

A 17-year-old female developed a syndrome of benign intracranial hypertension after a minor craniocerebral trauma. On the vertex a congenital scalp anomaly was noticed. An underlying bone defect was revealed by skull radiographs. Cerebral angiography showed absence of the straight sinus as well as other abnormalities of the cerebral venous drainage. In addition, several dysmorphic features, especially of the face and hands were present, which were also found in the mother and the sister. These stigmata could be interpreted as a partial expression of the Aarskog (facial-digital-genital) syndrome after examination of the 9-year-old brother who presented the typical facial, digital and genital features of this X-linked recessively inherited syndrome.
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PMID:Anomalous cerebral venous drainage in Aarskog syndrome. 670 62

In this report, we describe the findings of a noninvasive assessment of the intralabyrinthine pressure in two patients from a family with X-linked progressive, mixed deafness syndrome in whom a perilymphatic gusher occurs during stapes surgery. The so-called tympanic membrane displacement measurement technique could be successfully applied in these two patients (from a total of five patients who were studied) because they still showed a stapedial reflex at 1 kHz, which is mandatory for application of the tympanic membrane displacement measurement technique. The findings were compared with those of age-related control subjects and indicated a significantly elevated intralabyrinthine pressure in the two patients who were observed. The results suggest that the tympanic membrane displacement measurement technique may serve as a screening test in audiological diagnostic studies of perilymphatic hypertension.
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PMID:Noninvasive assessment of the intralabyrinthine pressure. A new technique applied to patients with X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes surgery. 761 23

We report a 54-year-old man with X-linked bulbospinal muscular atrophy (BSMA) with bilateral abductor vocal cord paralysis. He noticed distal weakness in the lower limbs at age 20. In the following 18 years the weakness and atrophy of his leg muscles increased gradually. He has complained of stridors during respiratory tract infection and snored heavily during sleep since his age of 50. He was admitted to our hospital for the progressive stridors during meals. His two brothers were said to have similar complaints. Physical examination showed gynecomastia, hypertension and inspiratory stridor. Neurologic examination revealed distal muscular atrophy in his four extremities, especially more severe in bilateral lower limbs. Deep tendon reflexes were absent in all extremities. His tongue was slightly atrophic with fasciculation. Neurological diagnosis was made by family history, neurological findings, electromyography and a CAG repeat expansion in the androgen receptor gene. Lungs and diaphragm were normal on the chest radiograph. Cranial MRI including brain stem was also normal. Direct laryngoscopy showed a complete paralysis of both vocal cords in paramedian position. Tracheostomy was done right away; his respiratory distress showed prompt improvement after the tracheostomy. No previous report of bilateral vocal cord paralysis in BSMA has been found. Life expectancy in BSMA patients with vocal cord paralysis may be shortened because of respiratory distress or asphyxia. Of clinical importance is a careful assessment of vocal cord function in BSMA patients.
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PMID:[A case of X-linked bulbospinal muscular atrophy with bilateral abductor vocal cord paralysis]. 890 90

Treatment for X-linked hypophosphatemia (XLH; vitamin D metabolites and phosphate salts) may result in hypercalcemia, hypercalciuria, nephrocalcinosis, and hyperparathyroidism. Cardiovascular abnormalities occur in association with these complications, but have not been reported in XLH. We hypothesized that such abnormalities may occur in XLH and evaluated cardiovascular status in 13 patients with this disease. All patients were asymptomatic and had normal cardiovascular physical examinations and Holter studies. Serum calcium and creatinine clearance were normal in all. However, all patients had mild to moderate nephrocalcinosis. Left ventricular hypertrophy was diagnosed by electrocardiogram in three and by ultrasonography in seven children. Baseline blood pressure (BP) was normal (mean +/- SD, 116 +/- 15/74 +/- 6 mm Hg). During exercise stress testing, systolic BP increased in all patients, but the maximal systolic pressure was less than that in healthy age- and sex-matched controls (156 +/- 20 vs. 175 +/- 23; P = 0.002, by t test). An abnormal increase in diastolic BP occurred at all levels of work load in XLH patients; their peak exercise diastolic BP was 91 +/- 12 vs. 72 +/- 6 mm Hg in controls (P < 0.0001, by t test). Whether these abnormal findings are primary defects in XLH or represent complications of treatment is unclear. Patients with XLH should be monitored closely for the development of hypertension and left ventricular hypertrophy. Investigation of the mechanisms involved and establishment of therapeutic guidelines are indicated.
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PMID:Cardiovascular abnormalities in patients with X-linked hypophosphatemia. 925 16

The role of renin binding protein (RnBP) in human (patho)physiology, despite its biochemical characterization, is as yet unclear. RnBP has been shown to bind and inactivate renin, a key player of the blood pressure regulating renin-angiotensin system. This renders the RnBP gene a promising candidate gene in human hypertension. Herein, a molecular genetic approach was employed to investigate if RnBP might affect renin, prorenin and/or blood pressure levels. Sequencing of the human Xq28 chromosomal region provided the precise chromosomal location and full genomic sequence of the RnBP gene. All 11 exons, adjacent intronic splice sites and the promoter region were sequenced in 20 patients with essential hypertension of early onset and possible X-linked inheritance and in four normotensive individuals. The only variant found was a single base exchange polymorphism 61 base pairs upstream of the intron 6/exon 7 boundary (T61C). Several cardiovascular parameters, the renin, and prorenin levels and the T61C allele status were determined in 505 Caucasian individuals. Male individuals without medication who were hemizygous for the C allele were characterized by lower prorenin levels (196 +/- 15 versus 256 +/- 12 mU/l, P = 0.05) and a significantly higher renin/prorenin ratio (10.7 +/- 1.5 versus 7.7 +/- 0.3%, P = 0.002), whereas no variations in circulating renin, blood pressure, heart rate and left ventricular mass index were associated with the C allele. No significant association was observed in women. The data do not exclude a role of RnBP in essential hypertension. The complete genomic structure of the RnBP gene, including the identified repetitive sequence elements, provides an essential tool for further studies of the RnBP gene in hypertensive patients with a different genetic background.
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PMID:Human renin binding protein: complete genomic sequence and association of an intronic T/C polymorphism with the prorenin level in males. 928 90

In the last decade, two types of genes participating in the etiology of hypertension have been identified. The primary genes or blood pressure regulators are those that codify enzymes (renin, kallikrein, kininase, aminopeptidase), hormones (angiotensins, vasopressin, aldosterone, prostaglandins, and atrial natriuretic peptide) and substrates (angiotensinogen and kininogen). They cause arteriolar vasodilation or vasoconstriction or sodium retention in the extravascular space. Allelic polymorphisms associated to essential hypertension have been described. The secondary genes are those that produce hereditary diseases of low prevalence, associated to hypertension in 20 to 80% of patients (polycystic kidney disease, pheochromocytoma, adrenal hyperplasia, hereditary nephritis). Forty genes located in all chromosomes, that are dominantly, recessively or X-linked transmitted, have thus far been identified. Chromosomal maps with all genic loci are presented.
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PMID:[The genes of human hypertension]. 946 Feb 75

The Blotchy mouse is characterized by an X-linked inherited disorder of connective tissue synthesis. The susceptibility to aneurysm formation in the cerebral arteries of the circle of Willis was compared in female heterozygous 'Blotchy' and control mice subjected to unilateral carotid artery ligation either alone or associated with hypertension. Cerebral aneurysms developed only in hypertensive Blotchy mice (6/31 vs. 0/30 in hypertensive controls). Aneurysms of the aorta and its major branches occurred in normotensive mice only in the Blotchy group in which hypertension increased the incidence of mesenteric and coeliac aneurysms. A light microscopic study of interruptions of the internal elastic lamina (IIEL) showed that they developed in arteries of both Blotchy and control mice but to a greater extent in the Blotchy group where hypertension further increased their incidence. The IIEL incidence in the aortic arch varied in parallel to the occurrence of aneurysms in all the different arterial sites. Thus, in an apparently normally viable animal, the presence of a mutated gene which indirectly leads to defective elastin and collagen fibre synthesis, favours the formation of both peripheral and cerebral aneurysms. However, the development of cerebral aneurysms requires the addition of an increase in haemodynamic stress.
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PMID:Experimental cerebral aneurysms in the female heterozygous Blotchy mouse. 1063 85

Previous series that described phenotypes in carriers of Alport's syndrome did not distinguish genetically between carriers of X-linked and autosomal recessive disease. In this study, modes of inheritance in unselected families with Alport's syndrome associated with two city and two provincial hospitals were determined using microsatellite markers, and carriers of disease haplotypes were identified within these families. All 47 carriers (100%) from 18 families with X-linked Alport's syndrome had dysmorphic hematuria on phase-contrast microscopy, but few developed renal failure (3 of 40 carriers; 8%), clinical hearing loss (2 of 45 carriers; 4%), retinopathy (1 of 30 carriers; 3%), or lenticonus (0 of 30 carriers; 0%). Eleven of the 14 carriers (79%) from 2 families with autosomal recessive disease had dysmorphic hematuria, but none had renal failure, clinical hearing loss, retinopathy, or lenticonus. Urinary red blood cell counts in carriers of X-linked Alport's syndrome were greater than those in carriers of autosomal recessive disease (P < 0.0001), but the frequency of proteinuria and hypertension and levels of proteinuria were not different. There was more tubulointerstitial damage in carriers of X-linked disease (P = 0.012); however, carriers of autosomal recessive disease had more widespread and more uniform thinning of the glomerular basement membrane (P < 0.0001) and less lamellation (P < 0.04).
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PMID:A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome. 1172 53


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