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

Abnormalities of renal handling of urate occur in a wide variety of physiological and pathological conditions and are mediated by factors including renal blood flow, glomerular filtration rate, urine flow rate, urinary constituents, metabolites, hormones and drugs. The determination of the aetiological factors in each abnormal situation is complex and the problem is discussed in relation to a variety of conditions including renal tubular disorders and mental intoxications, hypertension, toxaemia of pregnancy, glycogen storage disease, fructose administration, hereditary fructose intolerance, as well as obesity, regular alcohol consumption and hyperlipoproteinaemia. Apart from those diseases, usually genetically determined, which are associated with excessive production of urate, the most common causes of hyperuricaemia act at a renal level and result in a reduction in the net renal excretion of urate.
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PMID:Abnormal renal urate homeostasis in systemic disorders. 105 88

In order to study the long term outcome of hepatic glycogen storage diseases, a national retrospective inquiry gathered 76 patients older than 12 years. In adolescents and adults, hypoglycemia, failure to thrive, pubertal delay, hepatomegaly and metabolic disturbances are major in type I, intermediary in type III and mild in type "VI+IX". Spontaneous improvement of these symptoms is noted in older patients. Beside these classical signs, anemia, high blood pressure, renal failure and persistent hypercholesterolemia were reported in some type I glycogen storage disease and bad school and professional results in type III. The knowledge of these complications should lead to a better management of these patients.
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PMID:[Long-term course of hepatic glycogenosis. A retrospective study of 76 cases]. 306 69

Hypertension and proteinuria were observed in a 2-year-old child with type IA (von Gierke's) glycogen storage disease (GSD). She had evidence of hyperfiltration and had elevated selective renal vein renins. On renal biopsy, increased mesangial cell matrix and cellularity were observed with focal thickening and irregularity of the basement membrane. This case may be representative of the early renal findings in type IA GSD.
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PMID:Hypertension in a child with type IA glycogen storage disease. 342 87

To evaluate effective renal plasma flow (ERPF) we performed renal scintigraphies with 99mTc-Mercaptoacetyl-triglycine (MAG3) in nine patients with glycogen storage disease I (GSD I) (age: 16 +/- 7 years). Two patients presented with proteinuria, none showed hyperaminoaciduria, disturbed tubular reabsorption of phosphate or hypertension. 99mTc-MAG3 clearance values were elevated in eight out of nine patients (865 +/- 233 ml/min/1.73 m2 body surface area) and exceeded the age-dependent mean values by 21%-145%. ERPF values in patients with poor metabolic control were higher than in patients with long-term good metabolic control (988 +/- 186 vs. 619 +/- 55 ml/min/1.73 m2; P < 0.05). We conclude that enhanced ERPF is a common finding in GSD I patients, which precedes clinically overt nephropathy. Renal scintigraphy with 99mTc MAG3 is a suitable method for the early detection and monitoring of kidney dysfunction in GSD I.
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PMID:Effective renal plasma flow in patients with glycogen storage disease type I. 840 72

Inherited kidney diseases are frequently encountered in adults; the diagnosis is often made and they usually progress to renal failure at this age. Autosomal dominant polycystic kidney disease is the most prevalent. It is one of the most common inherited diseases, involving 1 in 400 to 1,000 individuals. Renal cysts growth is responsible for hypertension and renal failure; polycystic kidney disease represents 6 to 7% of the causes of end-stage renal failure in adults. The disease also encompasses extra-renal localisations, i.e. liver cysts and intra-cranial aneurysms. Multiple renal cysts may be found in other inherited disorders, such as tuberons sclerosis and von Hippel-Lindau disease. Alport syndrome is the second most prevalent inherited kidney disease, characterized by various abnormalities of type IV collagen molecules. Molecular diagnosis is possible in some families, which makes genetic counselling more reliable. Finally renal involvement is frequent in a great variety of inherited metabolic (Fabry's disease, glycogen storage disease type 1, hyperuricemic nephropathy) or non-metabolic (nail-patella or Bardet-Biedl syndrome) diseases.
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PMID:[Hereditary kidney diseases in adults]. 936 16

The objective of this study was to determine systolic, diastolic, and mean arterial blood pressure (SBP, DBP, and MAP), heart rate (HR), double-product (DP: SBP x HR), and activity levels and their 24h pattern in liver glycogen storage disease (LGSD) patients. A case series of 12 (11 pediatric and one adult) diurnally active LGSD (seven type I, three type III, and two type IX) subjects were simultaneously assessed by 24h ambulatory blood pressure monitoring and wrist actigraphy. Nine subjects were judged to be hypertensive based on the criterion of an elevated 24h mean SBP and/or DBP being elevated beyond reference standards or the SBP and/or DBP load (percentage of time BP exceeds normal values) being greater than 25%. Two of the three other subjects, not viewed as hypertensive based on their 24h average SBP or DBP, exhibited daytime or nighttime SBP and/or DBP load hypertension. Each study variables displayed statistically significant (p < 0.001) group circadian rhythmicity. The SBP, DBP, and MAP displayed comparable 24h patterns of appreciable amplitude (total peak-trough variation equal to 17.7, 23.6, and 19.6%, respectively, of the 24h mean) with highest values (orthophase) occurring approximately 11 h after the commencement of daytime activity. The sleep-time trough (bathyphase) occurred approximately 4.5 h before morning awakening. The statistically significant (p < 0.006) circadian rhythms of HR (amplitude equal to 33.2% of the 24h mean) and DP (amplitude equal to 49.4% of the 24h mean) peaked earlier, approximately 7.4 h into the daytime activity span. The sleep-time trough occurred approximately 3 h before morning awakening. The 24h pattern in the cardiovascular variables was correlated with the 24h pattern of activity, with r ranging from 0.50 for DBP to 0.39 for HR.
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PMID:Circadian pattern of blood pressure, heart rate, and double product in liver glycogen storage disease. 1218 2

Pulmonary arterial hypertension is characterised by the presence of pulmonary hypertension (mean pulmonary artery pressure >25 mmHg at rest or >30 mmHg during exercise ) and normal pulmonary wedge pressure (<12 mmHg). Several risk factors for pulmonary arterial hypertension have been described. In the absence of any factor or condition suspected to play a causal or facilitating role in the process, pulmonary hypertension is "unexplained" (primary pulmonary hypertension, PPH). PPH is a rare condition, with an estimated incidence of 2 per million people. Recent genetic studies have identified mutations in the bone morphogenetic protein receptor-II (BMPR-II) gene, a receptor member of the transforming growth factor-beta family, in a majority of familial cases of PPH. Interestingly, 25% of patients displaying sporadic PPH may also have mutations in the BMPR-II gene, emphasising the relevance of genetic susceptibility for this severe condition. Other molecular and biochemical processes behind the complex vascular changes associated with pulmonary arterial hypertension are currently investigated. Type 1a glycogen storage disease caused by a deficiency of glucose-6-phosphatase has an estimated incidence of 1 per 100000 with a few reported cases of unexplained severe pulmonary hypertension. The occurrence of pulmonary arterial hypertension in type 1a glycogen storage disease could be due to vasoconstrictive amines such as serotonin, a pulmonary vasoconstrictor and growth factor for vascular smooth muscle cells stored in platelets.
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PMID:Severe pulmonary arterial hypertension in type 1 glycogen storage disease. 1237 80

The relationship between the hypertension and the aging process of hearing organ was investigated. Twenty Wistar 3-month old rats and 20 Wistar 12-month old rats, 20 spontaneously hypertensive rat stroke-prone (SHRSP) 3-month old rats and 20 SHRSP 12-month old rats free of middle ear infections as observed under otomicroscopy, with normal tympanic membrane and auricle reflex, were selected to be divided into two experimental groups and two control groups respectively. The tail artery blood pressure was measured non-invasively. The threshold of auditory brain-stem response (ABR) was measured by Spirit evoked potential meter. The LDH and ChE staining in the inner ear was performed and the optical density was analyzed by the HPIAS analysis system. The results showed that there was no difference in the ABR thresholds, the activities of LDH and ChE between Wistar 3-month old group and SHRSP 3-month old group (P > 0.05). The mean value of ABR threshold and the activities of LDH and ChE in the Wistar 12-month old group at relevant sections were significantly greater than those in the two 3-month old groups (P < 0.05), whereas the mean value of ABR threshold and the activities of LDH and ChE in the SHRSP 12-month old group at relevant sections were significantly higher than those in the 3-month old control group (P < 0.01). It was concluded that presbycusis existed in the Wistar 12-month old group rats. The glycogenosis and the abnormal secretion of neural transmitter were discerned after hypertension. All the above factors may worsen the aging of the hearing system.
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PMID:Effect of hypertension on hearing function, LDH and ChE of the cochlea in older rats. 1452 43

We report a 60-year-old Japanese patient with glycogen storage disease type 1a (GSD1a) who was thoroughly evaluated for risk factors of atherosclerosis. As often observed in patients with GSD1a, this patient has multiple risk factors for atherosclerosis including hyperlipidemia, hypertension, glucose intolerance with insulin resistance, and chronic kidney disease. However, she lacked clinically evident atherosclerosis as generally observed in GSD1a patients. Unexpectedly, this patient had marked hyperadiponectinemia (27.6 microg/mL; reference range, 4.1-18.9 microg/mL) with increase in the ratio of high-molecular weight to total adiponectin. Although the reason for the hyperadiponectinemia was not clear, at least it seemed to protect against enhanced atherosclerogenesis otherwise promoted by a battery of risk factors. Although further studies are needed, hyperadiponectinemia in addition to hypoinsulinemia might explain at least in part the lack of evident atherosclerosis in patients with GSD1a.
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PMID:Lack of evident atherosclerosis despite multiple risk factors in glycogen storage disease type 1a with hyperadiponectinemia. 1788 52

Left ventricular hypertrophy (LVH) is primarily or secondarily caused by a cardiovascular or systemic disease. The pattern of LVH is distinctive in hypertrophic or metabolic cardiomyopathy and differs from that seen in LVH caused by hypertension or aortic stenosis. A 42-year-old Japanese man had LVH similar to that with hypertrophic cardiomyopathy. The patient was diagnosed with glycogen storage disease type IIIa (GSD-IIIa). Echocardiography showed that he had severe LVH, and concomitant hepatomegaly and hypoglycemia, which led to measurement of glycogen debranching enzyme (GDE) activity; it was undetectable. Sequence analysis of the AGL gene encoding GDE showed a novel nonsense mutation: a C-to-T transition at codon 285 in exon 8, resulting in substitution of the arginine codon by the stop codon (R285X). The patient was homozygous for the mutation. Cardiomyopathy in this patient was caused by a nonsense mutation in the AGL gene. Five other Japanese GSD-IIIa patients over 30 years of age have all presented with cardiomyopathy, as well as hepatomegaly and hypoglycemia. Patients with LVH associated with hepatomegaly and hypoglycemia should undergo biochemical and genetic analyses for GSD-IIIa.
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PMID:A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene. 1789 67


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