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)

Cysts of the parathyroid glands are uncommon, and functioning parathyroid cysts that cause primary hyperparathyroidism are rare. A 63-year-old man had primary hyperparathyroidism because of cystic hyperplasia of all four parathyroid glands. He also had squamous cell carcinoma of the soft palate, chronic renal failure, hypertension, type-4 renal tubular acidosis, a hyperplastic thyroid adenoma, and hyporeninemic hypoaldosteronism. To our knowledge, this is the first patient to be described with hyperparathyroidism due to multiple parathyroid cysts. The finding of cystic involvement of all four glands supports the theory that at least some parathyroid cysts are either a result of a common embryologic defect or of retention of parathyoid secretions rather than of cystic infarction of parathyroid adenomas.
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PMID:Hyperparathyroidism due to primary cystic parathyroid hyperplasia. 65 52

A 2-year-old girl presenting with features of both Bartter's syndrome and renal tubular acidosis was investigated. Hypokalemia, increased plasma renin activity in the absence of hypertension, insensitivity to the pressor effects of angiotensin and a histological picture of juxtaglomerular hyperplasia were characteristic of Bartter's syndrome, but an unusual finding was the presence of metabolic acidosis instead of alkalosis. Functional studies revealed a proximal tubular defect in sodium and bicarbonate reabsorption and a distal defect in sodium reabsorption, urinary acidification and concentrating mechanism. Indomethacin administration was followed by an excellent clinical response and improvement of most functional abnormalities. The defect in distal sodium reabsorption was, however, not corrected by prostaglandin inhibition, and could represent the primary event leading to potassium wasting and secondary hypersecretion of prostaglandins.
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PMID:Bartter's syndrome presenting with features resembling renal tubular acidosis. Improvement of renal tubular defects by indomethacin. 65 58

Further investigation of a family with normaldosteronemic hyperpotassemia and low-renin hypertension showed seven members from three generations, who ranged in age from 4 to 56 years, to be affected. Results of earlier studies had established a normally functioning renin-aldosterone system and normal renal handling of potassium. Constant, albeit mild and asymptomatic, metabolic acidosis in all those affected prompted bicarbonate loading in both the propositus and his brother, which revealed a maximal renal tubular excretory capacity for bicarbonate reabsorption at serum levels of 18 mmole/liter and proved proximal renal tubular acidosis (PRTA). Further, a linear increase in urinary fractional potassium excretion accompanied that of bicarbonate in both, as in normal individuals. Dextrose-insulin infusion in the brother failed to reduce hyperpotassemia. These data support the hypothesis that a generalized cell membrane defect that specifically impedes potassium influx (as opposed to an isolated renal tubular defect) underlies this autosomal dominant disorder.
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PMID:Proximal renal tubular acidosis: association with familial normaldosteronemic hyperpotassemia and hypertension. 71 49

A case of severe lead poisoning with haemolytic anemia, extensive polyneuropathy and arterial hypertension is reported in a patient for whom G-6-P-D deficiency and renal tubular acidosis were discovered. Both traits were present in his family. Incomplete regression of paralysis and persistant biological abnormalities after chelating treatment were demonstrative of heavy saturnine load even though the toxic exposure was brief. The role of the two deficiencies in the mechanism of intoxication is discussed: facilitation of haemolysis by enzymopathy and bone lead redistribution resulting from osteolysis probably due to the tubulopathy. The authors emphasize the fact that thorough and serial biological investigation is essential in the discovery of factors which may precipitate lead poisoning, as well as in the determination of follow-up criteria of efficient toxic epuration with sufficient delay. Typing of the enzyme has led to the identification of a new variant of glucose-6-phosphate dehydrogenase deficiency.
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PMID:[Generalized saturnine paralysis. Discovery of a double congenital disease: glucose-6-phosphate dehydrogenase deficiency (new variant) and distal tubular acidosis]. 93 Dec 43

Angiotensin II is a potent pressor hormone and a primary regulator of aldosterone secretion. It acts through at least two types of receptors termed AT1 and AT2. We analyzed cDNA and genomic clones encoding the human angiotensin II type-1 receptor, AT1. The human AT1 gene was mapped to chromosome 3q by polymerase chain reaction analysis of DNA from a panel of human-hamster somatic cell hybrids. The predicted amino acid sequence is 95% identical to the corresponding rat and bovine receptors and 25% and 22% identical, respectively, to the receptors encoded by the RTA and MAS genes. Characterization of several human cDNA clones demonstrated the existence of two alternate 5'-untranslated regions (UTRs) that contain a common initial sequence but differ by the presence or absence of an insertion of 84 base pairs. In the genomic sequence, the coding sequences are contained in a single exon, with an intron occurring in the 5'-UTR at the position of insertion of the 84-base pair sequence. The exons encoding the alternate 5'-UTRs are located at least 3.8 kilobases away from the exon encoding the protein. Reverse transcription-polymerase chain reaction analysis showed that both forms of 5'-UTR are present in approximately equal abundance in a range of tissues expressing AT1. The reagents developed in this work may be useful in testing the hypothesis that genetic variations in angiotensin II receptor function are associated with a tendency to develop hypertension.
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PMID:Genetic analysis of the human type-1 angiotensin II receptor. 150 24

With available medical treatment programs a remission of stone disease could be achieved in more than 80 per cent of the patients and a decrease in individual stone formation rate obtained in greater than 90 per cent. The need for stone removal may be reduced dramatically by an effective prophylactic program. There is some evidence that certain stones (even calcareous types) may undergo dissolution in vivo with appropriate therapy. Moreover, properly applied medical treatments may be capable of overcoming nonrenal manifestations as well as preventing new stone formation. Thus, the potential development of bone disease in patients with renal tubular acidosis may be averted by potassium citrate therapy. Despite these advantages it is clear that the medical treatment approach cannot provide total control of the disease. Stone disease generally presents with a surgical problem related to an already formed stone before medical diagnosis and selective treatment may be applied. Some patients, albeit a minority, are recalcitrant to medical treatment no matter how heroic. A satisfactory response to medical treatment requires continued compliance by the patient to the recommended treatment program and a commitment by the physician to provide long-term followup care. There is no cure, only prophylaxis. The increasing ease and decreasing cost of new approaches to stone removal, particularly with the advent of second generation extracorporeal lithotripsy, will undoubtedly cast a continuing uncertainty on the need for medical diagnosis and treatment. Several factors might influence the choice between surgical and medical approaches. One factor is the severity of stone disease. Patients with repeated episodes of stone formation might be more likely to adopt preventive therapy, whereas those with infrequent stone episodes may elect simply to have them removed upon their occurrence without medical treatment between episodes. Also, the possibility that lithotripsy may cause long-term hazards (for example development of hypertension) must be clarified. Another factor is the occurrence of extrarenal manifestations. In patients suffering from systemic disorders in which nephrolithiasis is only 1 manifestation (for example distal renal tubular acidosis) a medical approach may be justified exclusive of effects on stone formation. Finally, one must consider the relative practicality and cost between stone removal and a medical approach. It is likely that improvements and reductions in costs will occur with both approaches. It is hoped that urologists and internists work jointly to find an appropriate balance between the 2 approaches.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Medical management of nephrolithiasis in Dallas: update 1987. 304 39

The acute renal side-effects of nonsteroidal anti-inflammatory drugs are well documented. These include interstitial nephritis, hyperkalaemia, renal tubular acidosis, fluid retention, hypertension and nephrotic syndrome. The long-term effects are less well known. We have carried out a cross-sectional survey of an unselected out-patient population with definite or classical rheumatoid arthritis to determine the prevalence of renal problems in this group. Thirty-four patients (20%) were shown to have an abnormality as defined by our criteria but in the majority this was transient or had been previously recognised. Thirteen patients (8%) had a persistent unexplained abnormality but only 1 had merited renal biopsy using established criteria (Patient 1). We conclude that the long-term use of NSAID's is associated with relatively few renal side-effects.
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PMID:A survey of renal function in outpatients with rheumatoid arthritis. 326 30

An 18-month-old girl presenting with anorexia and failure to thrive, was referred for adenoidectomy. Arterial hypertension was discovered on physical examination. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis, with slight azotemia. Urinary aldosterone excretion and plasma renin were decreased. Renal biopsy showed idiopathic interstitial nephritis. The diagnosis of type 4 renal tubular acidosis, sub-type 2, i.e. primary hyporeninaemic secondary hypoaldosteronism was proposed. According to our knowledge, this disease has not previously been reported in young children, but is well known in azotaemic adults. We therefore propose the inclusion of this uncommon renal disease in the differential diagnosis of failure to thrive in childhood.
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PMID:Type 4 renal tubular acidosis (sub-type 2) associated with idiopathic interstitial nephritis. 355 88

An 8-week-old infant with hypertension, hyperkalemia, and hyperchloremic acidosis, presumably due to chloride shunt type of distal renal tubular acidosis, is described. The patient's renin-aldosterone axis was intact. The infant was also found to have an obstructed solitary kidney. Despite correction of the obstruction and improvement in the glomerular filtration rate accompanied by normal development, hyperkalemia and renal tubular acidosis persisted. The defect was still demonstrable 9 months following relief of the obstruction. We conclude that neonatal obstructive uropathy can result in renal tubular acidosis of the chloride shunt type. The reversibility of this defect is, as yet, unknown.
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PMID:Hypertension, mineralocorticoid-resistant hyperkalemia, and hyperchloremic acidosis in an infant with obstructive uropathy. 356 6

12 adult patients with medullary sponge kidney (MSK), followed up for 1 to 14 years (mean 7 years) are presented. MSK was initially diagnosed in 4 cases. In 8 cases the initial diagnosis included pyelonephritis, nephrocalcinosis, and nephrolithiasis. Renal calculi (4 patients), urinary tract infection (8) and hematuria (5) were the most frequent symptoms. Renal tubular acidosis was documented in 2 patients and hypercalciuria without hyperparathyroidism in 2. Over the years renal calculi increased in size in 4 patients. Renal function was stable in 11. In one patient with associated, well controlled hypertension, serum creatinin rose from 141 to 298 mumol/l over 14 years.
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PMID:[Medullary sponge kidney. Diagnosis and course in 12 cases]. 397 81


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