Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.23.15 (renin)
 35,795 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two children, a brother and a sister with growth retardation, and their short adult female sibling presented with isolated growth hormone deficiency. In addition, they had hypokalemic alkalosis and overactive renin-angiotensin-aldosterone system. The mother of these three individuals has short stature plus growth hormone deficiency. Other members of the pedigree have average stature. All the patients are normotensive. In addition to potassium and magnesium administration, the children were treated with growth hormone for more than 12 months. The growth velocity more than doubled during the therapy period. The association between Bartter's syndrome and isolated familial growth hormone deficiency is of interest because of the combination of these two rare conditions. To our knowledge, there are no published growth hormone studies on Bartter's syndrome, which is also characterized by short stature.
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PMID:Case report: familial growth hormone deficiency associated with Bartter's syndrome. 160 73

A 22-yr-old female suffering from hypertension, hypokalemic alkalosis and suppressed plasma renin activity was studied. The plasma aldosterone concentration (PAC) ranged between subnormal and normal levels while the other adrenal mineralocorticoids were normal. Examinations through computed tomography and ultrasonography showed no abnormal findings. For differential diagnosis, dexamethasone, spironolactone and triamterene were administered. Triamterene alone corrected the abnormalities in this case, and the therapeutic effect was further enhanced by sodium restriction. Therefore, the present case is strongly suggested to be one of Liddle's syndrome, which is characterized by a primary defect in renal tubular sodium handling and can be corrected with triamterene. However, the patient in our study is different from the first reported case in which aldosterone secretion was estimated to be low. Analysis of the changes in PAC has shown that PAC is parallel with the level of plasma progesterone in accordance with the rhythm of the menstrual cycle and, in the follicular phase, PAC is rather low. It is concluded that the patient was suffering from Liddle's syndrome, and it is assumed that PAC is not always subnormal and, as same as in normal females, PAC may change in accordance with the rhythm of the menstrual cycle in a female case of Liddle's syndrome.
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PMID:Plasma aldosterone level in a female case of pseudohyperaldosteronism (Liddle's syndrome). 265 10

A 7-year-old girl had growth retardation, hypertension, and hypokalemic alkalosis. Baseline serum aldosterone concentration and plasma renin activity were low and unresponsive to sodium deprivation and to orthostatic changes. Baseline serum progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, and cortisol levels were normal and adequately responsive to ACTH stimulation. No steroid was found abnormally elevated. A diagnosis of 11 beta-hydroxysteroid dehydrogenase deficiency was established on the basis of elevated urinary tetrahydrocortisol plus allotetrahydrocortisol/tetrahydrocortisone ratio, determined by gas chromatography-mass spectrometry. Evaluation of bone mineral metabolism and parathyroid function, and skeletal radiographs, revealed the presence of rickets and secondary hyperparathyroidism. Treatment with spironolactone alone for 2 months corrected hypertension, hypokalemic alkalosis, and all laboratory and radiologic evidence of rickets and hyperparathyroidism, resulting in acceleration of growth rate. The response to spironolactone suggests that a hypermineralocorticoid state is responsible for the hypertensive syndrome and that rickets and hyperparathyroidism could be a consequence of excess mineralocorticoid activity.
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PMID:Spironolactone-reversible rickets associated with 11 beta-hydroxysteroid dehydrogenase deficiency syndrome. 302 98

This case report deals with an eight-year duration severe high renin hypertension and its consequences. In 1975, a 13 years old girl was found to have blood pressure (BP) levels of 240/150 mmHg with bilateral papilloedema. Hypokalemic alkalosis, a 45 mm Sokolow index (SI) and very high peripheral renin activity (PRA) were also noticed. Renal vein renin sampling (RVRS) suggested secretion from the left kidney but intravenous pyelography and renal arteriography were normal. BP levels were first controlled by triple treatment but rose one year later, despite adjunction of beta-blockers. High PRA was again found, but without hormonal gradient on a second RVRS. From 1977 to 1982, BP never fell to normal levels despite quadruple treatment. In 1982, a stage II optic fundus, a 58 mm SI and 2 g/day proteinuria are noticed, so that a new complete etiologic work up is undertaken in 1983: PRA is still high, with a dramatic acute BP fall after captopril and no gradient on a third RVRS, but intravenous pyelography, tomodensitometry and selective arteriography disclose a 4 cm diameter poorly vascularized tumour on the surface of the lower pole of the right kidney. BP levels are controlled for three months by captopril + chlorothiazide. The tumour is removed in january 1984. RVRS by direct peroperative punction indicates (a posteriori) hormonal secretion from the right kidney lower pole. Histologic examination and immunofluorescence with antirenin serum corroborate the juxtaglomerular origin of the tumour. Eighteen months later, BP is permanently normal, SI is 30 mm, and there is no proteinuria.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Natural history of arterial hypertension due to primary hyperreninism]. 314 36

A 17-year-old female weighing 37 kg and 140 cm in height was referred to our hospital for evaluation of dwarfism and primary amenorrhea. She was delivered with 3350 g in weight and 50 cm in height after a ten month pregnancy without complications. No abnormal findings were revealed in physical appearance except critomegaly. Episodes of nausea, vomiting and dehydration were rare throughout her childhood, but she had a tendency to salt craving. At the age of 14, her height was 140 cm. On admission, her physical development was markedly retarded for her age, except external genitalia. Diffuse pigmentations on the trunk and extremities were observed. Her blood pressure was normal (112/62 mm Hg). Serum potassium concentration was 2.9 mEq/L. Arterial-blood gas analysis revealed metabolic alkalosis. Both of renin activity (PRA) and aldosterone concentration (PAC) in plasma at rest were markedly elevated to 15.5 ng/ml/h and 107.1 ng/dl, respectively. The plasma concentrations of pregnenolone (1449 ng/dl), progesterone (178 ng/dl), 17-OH-pregnenolone (1613 ng/dl), 17-OH-progesterone (180 ng/dl), dehydroepiandrosterone (3706 ng/dl), androstendione (824.6 ng/dl) and testosterone (900 ng/dl) were high, whereas deoxycorticosterone (15.7 ng/dl), corticosterone (0.65 microgram/dl) and cortisol (6.8 micrograms/dl) were within normal limits. Urinary 17-KS excretion showed high levels between 65.7 and 109.4 mg/day, while urinary 17-OHCS excretion was normal (5.7-7.0 mg/day). Vascular response to angiotensin II (A-II) was attenuated. Distal fractional chloride reabsorption was decreased (CH2O/CH2O+CCl = 0.62, normal: 0.92 +/- 0.04). Moderate hyperplasia of the juxtaglomerular cells was demonstrated in biopsy specimen of the kidney. Cytogenetic studies showed a 46, XX chromosome constitution with translocation of the long arm of chromosome 6 to the short arm of chromosome 9. Her mother as well as younger brother and sister, whose electrolytes and arterial-blood gas analysis showed normal values, had chromosomes with the same translocation. Treatment with dexamethasone (2 mg/day) reduced every adrenal steroids to normal range, but PRA and PAC remained high levels. Furthermore, neither hypokalemic alkalosis nor vasoreactivity to exogenous A-II was improved. Indomethacin (75 mg/day) decreased urinary excretion of prostaglandin E2 from a high level of 738.4 ng/day to 433.4 ng/day and normalized metabolic alkalosis. Vascular response to A-II was moderately improved. However, serum potassium remained low.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A case of 21-hydroxylase deficiency and Bartter's syndrome associated with a balanced 6-9 translocation]. 349 Oct 9

A 22-year-old man was hospitalized because of hypertension, hypokalemic alkalosis and suppressed plasma renin activity. Although these findings were similar to hyperaldosteronism, plasma aldosterone concentration and urinary aldosterone excretion were lower than the normal range. Adrenocortical function also was normal except for aldosterone. Treatment with spironolactone, salt restriction and potassium supplementation improved the hypokalemia but not the hypertension. Blood pressure decreased markedly after administration of triamterene.
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PMID:Pseudohyperaldosteronism (Liddle's syndrome): a case report. 394 6

Among the forms of endocrine hypertension, attention has recently been turned, apart from pheochromocytoma, to hypertensions caused by overproduction of mineralocorticoids. In this category are included, in addition to the classic Conn syndrome, aldosteronism associated with bilateral adrenal hypertrophy, dexamethasone-suppressible aldosteronism, and overproduction of mineralocorticoids (other than aldosterone) in the case of defects in the steroidogenesis enzyme system. In these cases, mineralocorticoid overproduction is accompanied by a low level of renin, by hypokalemic alkalosis. Secondary hyperaldosteronism, due to the stimulation of aldosterone secretion by increased activity of the renin-angiotension system, occurs during the malignant phase and in cases of renovascular hypertension. Estrogens, in cyclically secreted physiological quantities, have rather a protective effect on the origination of hypertension. At high dosages (as in contraceptives), estrogens can induce or aggravate hypertension in susceptible women by their effect on the activity of the renin-angiotensin-aldosterone system, notably by increasing the renin substrate. In the case of essential hypertension, deviations were found in the functioning of catecholamine storage granules in the sympathetic nerve endings. The renin-angiotensin-aldosterone system functions as an accelerating factor only in the advanced phase of essential hypertension, and the possibility of its participation in development of malignancy cannot be eliminated. A special group is comprised of essential hypertension with renin suppression, which is associated with a relatively high level of urinary excretion of dopamine as compared with noradrenalin. In renovascular hypertension, the renin-angiotensin-aldosterone system most often functions as an etiopathogenetic factor at the onset of the disease. In advanced stages, increased blood pressure levels must be considered to be attributable to other factors. Blood pressure regulati on and idiopathogenesis in hypertension cases are complex processes induced by the interaction of several different hemodynamic, nervous, and humoral factors. The study of humoral factors contributes to etiopathogenetic understanding and to the differential diagnosis of the various kinds of hypertension.
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PMID:[New data on hormone-dependent hypertension and their significance for the practice]. 434 13

In the syndrome of hypokalemic alkalosis, aldosteronism, elevated plasma renin and normal blood pressure, the juxtaglomerular apparatus shows hypertrophy and hyperplasia of all elements. Renal handling of sodium is abnormal: despite excessive delivery of proximal fluid to distal sites so that potassium secretion is excessive, free water formation is subnormal. The syndrome is frequently familial, but no inherited case is known. In erythrocytes low sodium efflux coefficient and high sodium concentration may serve as "markers" for the syndrome. In two cases, products of consanguineous relations, autosomal recessive inheritance is suggested.
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PMID:The syndrome of juxtaglomerular hyperplasia with aldosteronism, hypokalemic alkalosis and normal blood pressure. 447 Aug 84

A 19-year-old female, known to have had hypertension and hypokalemic alkalosis since the age of 9 months, was found to have suppressed renin, negligible plasma and urinary aldosterone and low plasma levels of other known sodium-retaining steroids. Despite the normal plasma cortisol the urinary excretion of 17-oxosteroids and 17-oxogenic steroids was low as was the cortisol secretion rate, suggesting a diminished metabolic clearance of cortisol. This was confirmed by the demonstration of a prolonged t 1/2 of 14C-cortisol. The abnormally high urinary excretion ratios of cortisol to cortisone, tetrahydracortisol to tetrahydrocortisone and 11-hydroxy-aetiocholanolone to 11-oxy-aetiocholanolone indicate that the diminished cortisol breakdown is the result of deficient 11 beta-oxidation. Moreover, the urinary excretion of free cortisol was elevated, probably due to diminished tubular reabsorption of cortisol. Hypokalemic alkalosis did not respond to spironolactone, but was partly corrected by amiloride. No response to dexamethasone was observed, but dexamethasone combined with aminogluthetimide normalized blood pressure and serum K. These findings support the involvement of a sodium-retaining, kaliuretic steroid in this rare syndrome.
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PMID:Apparent mineralocorticoid excess and deficient 11 beta-oxidation of cortisol in a young female. 609 45

The finding of hypokalemia and of low plasma renin activity (PRA) in a hypertensive patient suggests a diagnosis of primary hypermineralocorticoidism. Medications containing compounds with mineralocorticoid-like activity (licorice, carbenexolone) may also cause the same syndrome. Recently, we carried out detailed studies on 10 patients with severe hypertension and hypokalemic alkalosis, suppressed PRA and low aldosterone levels. Plasma levels of cortisol and ACTH were suppressed in most of the cases. Measurement of deoxycorticosterone and corticosterone (and in some patient of 18-hydroxydeoxycorticosterone and 18-hydroxycorticosterone) was not significantly higher than normal. Therapeutic trials of dexamethasone and aminoglutethimide were ineffective. In contrast, spironolactone and amiloride treatment resulted in substantial but incomplete amelioration of both hypertension and hypokalemia. All of the patients share a common history of chronic rhinitis and habitual use of large doses of nasal spray containing 9 alpha-fluoroprednisolone and vasoconstrictor agents. Withdrawal resulted in a complete remission of hypokalemia in one to two weeks in all patients. The hypertension and depressed levels of PRA, aldosterone and cortisol took longer to return to normal, varying from case to case; in all but one patient, the values returned to normal within two months. This report reveals another cause of factitious mineralocorticoid excess which may be considered in the differential diagnosis of hypokalemic hypertensive syndromes.
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PMID:Mineralocorticoid hypertension due to a nasal spray containing 9 alpha-fluoroprednisolone. 616 77


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