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)

Two sisters who presented with diffuse hypoplasia of pulmonary arteries, relative hypoplasia of ascending aorta, obstructive uropathy, bilateral ureteral reflux, and hydronephrosis, are described. The subsequent course was characterized by progressive and gradual onset of right heart failure, failure to thrive, chronic malabsorption and systemic hypertension. The syndrome which appears to be transmitted by autosomal recessive inheritance can possibly represent a generalized hypoplasia and growth failure of a part or the entire arterial system. Peripheral pulmonary stenosis can occur as an isolated lesion or in association with other congenital cardiac anomalies, as well as in rubella syndrome and the syndrome of supravalvular aortic stenosis. This communication reports two siblings with a hitherto unreported combination of hypoplastic pulmonary arteries, and aorta with identical genito-urinary tract abnormalities.
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PMID:Hypoplastic pulmonary arteries and aorta with obstructive uropathy in 2 siblings. 671 10

Hypertension is the leading cause of renal failure in this dialysis and transplant center. When malignant hypertension is encountered, the symptom complex of cachexia and failure to thrive highlights its clinical presentation. The courses of 32 black renal hypertensive patients studied retrospectively demonstrated this symptom complex as well as prolongation of survival, when bilateral nephrectomy and renal transplantation were used as definitive treatment.
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PMID:Malignant hypertension revisited: the role of bilateral nephrectomy. 699 10

Captopril, an orally active inhibitor of angiotensin-converting-enzyme, offers a new approach in the treatment of renin-induced hypertension, which is refractory to conventional drugs. A 4 months old infant developed after nephrectomy again hypertension which was probably renin-induced. BP did not respond to high doses of methyl-dopa, clonidine, hydralazine, and furosemide. An acute BP response to captopril was seen at a daily dose of 150 mg. During long-term treatment 75 mg captopril and 12.5 mg hydrochlorothiazide resulted in normalization of BP. In a second child with renin-induced hypertension since the firth month of life, treatment wiht hydralazine, clonidine and hydrochlorothiazide was in part effective, but failure to thrive was progressive. Captopril treatment was started at the age of 20 months. BP was lowered at a daily dose of 75 mg and normalized during long-term therapy with 50 mg. Side effects were not seen.
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PMID:Successful acute and long-term treatment of renin-induced hypertension in two infants with captopril. 700 77

A 19-month-old boy presented with failure to thrive and polydipsia. Low-renin hypertension was diagnosed by the presence of hypertension, hypokalaemic alkalosis, suppressed plasma renin activity and low plasma aldosterone. Plasma levels and urinary excretion of other mineralocorticoids and glucocorticosteroids were low or normal. Urinary tetrahydrocortisol (THF) was increased relative to tetrahydrocortisone (THE) and also the plasma cortisol to cortisone ratio was elevated. These findings are suggestive of a decreased activity of cortisol-11 beta-hydroxysteroid dehydrogenase. Hypertension and hypokalaemia were not influenced by spironolactone and dexamethasone. Triamterene normalised serum potassium, but addition of furosemide was required for lowering blood pressure. With this treatment catch-up growth was observed.
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PMID:Low-renin, low-aldosterone hypertension and abnormal cortisol metabolism in a 19-month-old child. 704 81

The so-called syndrome of 'apparent mineralocorticoid excess' (AME) is a rare cause of endocrine hypertension thought to result from a defect in the peripheral conversion of cortisol to cortisone. Less than 30 cases have been described. From a consanguineous marriage we present a family comprising 2 and probably 3 affected cases of AME. The index case is a 4-year-old boy with mineralocorticoid hypertension, short stature, failure to thrive, hypokalaemic nephropathy and osteopenia. The ratio of the urinary excretion of tetrahydrocortisone/tetrahydrocortisols was reduced at 0.05 (reference range 1.77-2.11), and the plasma half-life of 3H-11 alpha-cortisol elevated at 152 minutes (reference range 30-50) indicative of severe 11 beta-hydroxysteroid dehydrogenase deficiency. Plasma cortisol concentrations were normal and daily secretion rate reduced. Dexamethasone administration induced a natriuresis in keeping with the observation that cortisol itself is the implicated mineralocorticoid. Treatment with amiloride lowered blood pressure, increased potassium levels, and resulted in an increase in growth rate. The boy's twin brother died at the age of 3.5 years following a trivial diarrhoeal illness and was almost certainly affected. AME was also diagnosed in a younger brother (age 17 months), but both parents are normal. Congenital deficiency of 11 beta-hydroxysteroid dehydrogenase should be considered in any child with mineralocorticoid hypertension and failure to thrive. As cortisol is the 'offending' mineralocorticoid in this condition, the term 'apparent' mineralocorticoid excess is perhaps obsolete.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Mineralocorticoid hypertension and congenital deficiency of 11 beta-hydroxysteroid dehydrogenase in a family with the syndrome of 'apparent' mineralocorticoid excess. 755 23

The most active corticosteroids are 11 beta-hydroxylated. Humans have two isozymes with 11 beta-hydroxylase activity that are respectively required for cortisol and aldosterone synthesis. CYP11B1 (11 beta-hydroxylase) is expressed at high levels and is regulated by ACTH, whereas CYP11B2 (aldosterone synthase) is normally expressed at low levels and is regulated by angiotensin II. In addition to 11 beta-hydroxylase activity, the latter enzyme has 18-hydroxylase and 18-oxidase activities and thus can synthesize aldosterone from deoxycorticosterone. Insights into the normal functioning of these enzymes are gained from studies of disorders involving them. Mutations in the CYP11B1 gene cause steroid 11 beta-hydroxylase deficiency, a form of congenital adrenal hyperplasia characterized by signs of androgen excess and by hypertension. Mutations in CYP11B2 result in aldosterone synthase (corticosterone methyloxidase) deficiency, an isolated defect in aldosterone biosynthesis that can cause hyponatremia, hyperkalemia, and hypovolemic shock in infancy and failure to thrive in childhood. These are both recessive disorders. Unequal crossing over between the CYP11B genes can generate a duplicated chimeric gene with the transcriptional regulatory region of CYP11B1 but sufficient coding sequences from CYP11B2 so that the encoded enzyme has aldosterone synthase (i.e. 18-oxidase) activity. This results in aldosterone biosynthesis being regulated by ACTH, a condition termed glucocorticoid-suppressible hyperaldosteronism. This form of genetic hypertension is inherited in an autosomal dominant manner.
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PMID:Disorders of steroid 11 beta-hydroxylase isozymes. 798 80

This study was designed to investigate the outcome of all elderly patients older than 65 who started peritoneal dialysis (PD) between January 1989 and December 1992. One hundred and twenty end-stage renal disease (ESRD) patients commenced PD at our institution between January 1989 and December 1992. All the patients who started, completed PD training, and remained on PD for more than one month were included in the study. Of these, 30 patients were elderly (more than 65 years old) with a mean age of 72 years (range 66-81 years). The total number of patient-months observed was 2035, of which the elderly represented 454 patient-months. Twenty-five percent (30 of 120 patients) were elderly. The causes of ESRD were diabetes mellitus in 6 patients (20%), glomerulonephritis in 6 (20%), atheroembolic disease in 4 (13.3%), hypertension in 2 (6.7%), and unknown etiology in 10 (33.3%) patients. Sixteen patients performed continuous ambulatory peritoneal dialysis (CAPD) and 14 patients continuous cycling peritoneal dialysis (CCPD). Five patients required private home nurses for multiple medical problems and for PD. Mean duration of peritoneal dialysis per patient was 15 months. Four patients were transferred to incenter hemodialysis, one each because of failure to thrive, insurance, catheter malfunction, and fungal peritonitis. One patient recovered renal function after 22 months of PD. Twenty-one episodes of peritonitis occurred over 454 patient-months (1 episode/22 patient-months). In conclusion, the elderly patients on PD have a favorable outcome even with multiple comorbid conditions.
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PMID:Peritoneal dialysis in elderly end-stage renal disease patients. 810 7

We report the case of a 16-month-old boy who presented with chronic vomiting, failure to thrive, arterial hypertension and medullary nephrocalcinosis. Laboratory results revealed hypokalaemia, metabolic alkalosis, increased urinary potassium excretion and a hyporeninaemic hypoaldosteronism. Chromatographic determination of urinary steroid metabolites showed an abnormal elevation of tetrahydrocortisol and allo-tetrahydrocortisol compared to tetrahydrocortisone; this pattern of urinary steroid excretion is essential for the diagnosis of the syndrome of apparent mineralocorticoid excess type 1 and believed to be a result of the underlying metabolic defect, a decreased activity of the 11 beta-hydroxysteroid dehydrogenase. A second variant, called syndrome of apparent mineralocorticoid excess type 2, has similar clinical features but lacks the typical urinary steroid profile. Therapy with spironolactone resulted in growth, weight gain and blood pressure control.
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PMID:Diagnosis and treatment of a child with the syndrome of apparent mineralocorticoid excess type 1. 883 92

Severe non-organic failure to thrive associated with physical and emotional abuse including food deprivation was diagnosed in a 9-y-old boy. Rapid catch-up growth (weight and height) followed change of carer. Recovery of poor growth hormone response to clonidine stimulation was associated with benign intracranial hypertension accompanied by headaches and vomiting. Possible mechanisms are discussed.
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PMID:Non-organic failure to thrive complicated by benign intracranial hypertension during catch-up growth. 935 Sep 2

A 2-year-old male patient was evaluated for Fanconi syndrome with hypertension and failure to thrive. Renal biopsy revealed autoimmune interstitial nephritis with membranous nephropathy. The patient developed autoimmune hemolytic anemia and intractable diarrhea with villous atrophy of the jejunum. He progressed to end-stage renal disease and was transplanted without recurrent disease. Immune work-up done prior to immunosuppressive therapy showed marked elevation of IgE. Studies of T lymphocyte cytokine production showed normal production of interleukin-4 but depressed levels of interferon-gamma. The simultaneous occurrence of autoimmune interstitial nephritis and membranous nephropathy in a young male represents a unique syndrome. Abnormalities of T lymphocyte subpopulations and their cytokines may be involved in the pathogenesis of this disorder.
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PMID:The syndrome of autoimmune interstitial nephritis and membranous nephropathy. 943 46


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