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)

A 52-year-old man had hypertension, persistent hyperkalemia, and hyperchloremic metabolic acidosis; renal and adrenal functions were normal. Four other members of the family have the same findings. The patient's plasma aldosterone (PA) level was within normal range, though plasma renin activity (PRA) was undetectable. The ability to conserve sodium with increased endogenous aldosterone levels, and the inability to increase potassium excretion while exogenous mineralocorticoid (fludrocortisone acetate) was administered, indicated a distal tubular defect in potassium handling. Effective reduction of the hyperkalemia by K+ -Na+ exchange resin also corrected the acidosis and the hyperchloremia, suggesting that hyperkalemia may cause metabolic acidosis.
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PMID:Familial hyperkalemia, hypertension, and hyporeninemia with normal aldosterone levels. A tubular defect in potassium handling. 63 41

In a prospective study we estimated common renal parameters in 48 full term normal neonates, of which 15 were also tested at 6 months and 12 months of age. The mean levels of serum creatinine, were high at birth (0.73 mg/dl) but normal for age at 6 and 12 months; uric acid followed a similar trend. The blood pH and bicarbonate were low at birth (7.28 and 20.36 mEq/L, respectively) reached normal adult values by 12 months; chloride levels were high at birth (110 +/- 5 mEq/L) and normal at 6 months. The plasma renin activity was higher than normal all throughout the first year (27.1, 416.8, 64.8 ng/ml/hr by RIA). Plasma aldosterone values were high at birth (1387.5 pg/ml) and reached normal level (301.6) at 12 months. Renal length and volume as assessed by ultrasonography compared well with American standards. Urinary constituents were variable due to breast feeding up to 6 months and varied diet during the weaning period. This study shows that mild metabolic acidosis and hyperchloremia due to immaturity of renal acidification mechanism and high renin and aldosterone levels due to partial nonresponsiveness of distal tubules are normal variables in babies from birth to 6 months. The levels of serum creatinine and uric acid are high at birth and in assessing renal functions this should be borne in mind.
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PMID:Renal parameters during infancy. 129 93

1. An increase in plasma chloride concentration (PC1) decreases renal blood flow (RBF) and glomerular filtration rate (GFR) and inhibits the intrarenal release of renin and angiotensin II (AII). Captopril was administered to indomethacin-treated dogs to assess the role of AII independent of prostaglandins (PGs) in the haemodynamic response to hyperchloraemia. Studies were performed on kidneys that were denervated by autotransplantation. 2. Anaesthetized greyhounds received an intrarenal infusion of 0.616 M-sodium acetate, which was changed to 0.616 M-NaCl (hyperchloraemia). These infusions increased the plasma sodium and osmolality at the experimental kidney by 7-11% throughout but increased the PCl during the hypertonic NaCl infusions only (122 +/- 3 to 136 +/- 3 mM). 3. In vehicle-treated dogs (n = 8), hyperchloraemia reduced the GFR (1.4 +/- 0.1 to 1.0 +/- 0.1 ml min-1 kg-1; P less than 0.05) and the RBF (13.0 +/- 1.4 to 8.3 +/- 0.6 ml min-1 kg-1; P less than 0.01); these changes were reversible on return to the 0.616 M-sodium acetate infusion. Hyperchloraemia reduced the release of AII into renal lymph (2.5 +/- 0.9 to 1.2 +/- 0.4 pg min-1 kg-1; P less than 0.01). 4. Indomethacin (0.6 mg kg-1 and 0.2 mg kg-1 h-1 intrarenally; n = 4) blunted (P less than 0.05) the Cl--induced fall in RBF (10.4 +/- 1.1 to 8.2 +/- 0.6 ml min-1 kg-1) without changing significantly the fall in GFR or the release of AII into renal lymph.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Renal haemodynamics during hyperchloraemia in the anaesthetized dog: effects of captopril. 307 84

Renal vascular resistance (RVR) was related to intrarenal release of renin (RR) and angiotensin II (ANG II) during increases in plasma osmolality (Posmol) or chloride (PCl). Intrarenal infusions of 1.232 M solutions given to in situ kidneys increased Posmol by 7-18%. Hypertonic dextrose (n = 8) reduced RVR (P less than 0.005) but increased RR into plasma (P less than 0.01) and increased lymph renin (LR) (P less than 0.05). The response to hypertonic Na acetate (n = 5) was similar, but hypertonic NaCl (n = 9) increased RVR (P less than 0.02) without changing RR. During infusion of arachidonic acid (AA), hypertonic NaCl increased RVR (P less than 0.02) but decreased RR into plasma and decreased LR (P less than 0.05). Overall group mean changes in RVR were inversely related to LR (r = -0.96; P less than 0.01). An increase in PCl of 12 +/- 1 mmol/l was induced in denervated kidneys by changing an intrarenal 0.616 M infusion of Na acetate to NaCl. Hyperchloremia increased RVR from 14 +/- 2 to 19 +/- 2 mmHg . ml-1 . min-1 . kg-1 (P less than 0.01), reduced GFR from 1.4 +/- 0.1 to 1.1 +/- 0.1 ml . min-1 . kg-1 (P less than 0.01), and reduced ANG II (pg/ml) in renal venous plasma (55 +/- 6 to 35 +/- 6; P less than 0.05) and lymph (366 +/- 111 to 209 +/- 53; P less than 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Release of renin and angiotensin II into plasma and lymph during hyperchloremia. 331 Jun 63

A 44-year old woman without history of hypertension in her 4 pregnancies was hospitalized for hemoptysia and found to have hypertension 230/120 to 250/150: she had been taking 2 tablets of Lyndiol (5 mg lynestrenol and .15 mg mestranol) daily for 2 years without medical supervision. Findings included: hypokalemia (2.5 mEq/1), hyperchloremia (105 mEq/1), elevated aldosterone excretion (27 m cg/24 hours), low plasma renin activity (5 ng/1/minute). The initial diagnosis of an aldosterone secreting tumor was discarded and the oral contraceptive incriminated when her blood pressure fell, her lab finding normalized and she lost 3 kg within 6 weeks while on a normal diet. Several weeks after her blood pressure had remained 140/80 to 150/90, she was hospitalized again and given 2 tablets of Lyndiol daily while consuming a diet of 100 mEq sodium per day. The only change was a definite increase in plasma renin substrate from 1300-2300 ng/ml. The authors suggested that the hypertension observed in some pill users is due to hyper-aldo-steronism not resulting from stimulation of the renin-angiotensin system.
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PMID:[A case of arterial hypertension imputable to an estroprogestational contraceptive. Implication of the renin-angiotensin-aldosterone system]. 431 41

A 56-year-old white female presented with longstanding hyperkalemia, hyperchloremia, and hypertension. Renal function was normal. Plasma renin levels were low as were serum and urinary aldosterone. Plasma cortisol levels were normal. Fludrocortisone was ineffective in lowering serum potassium. Plasma renin and aldosterone levels responded appropriately to salt restriction and to postural changes. Plasma atrial natriuretic hormone (ANH) and urinary prostaglandins (PG) were normal. Salt loading resulted in suppression of renin and aldosterone levels and stimulation of plasma ANH and urinary PG but failed to increase potassium or chloride excretion. The persistent hyperkalemia, hyperchloremia, and suppressed renin-aldosterone axis were consistent with type II pseudohypoaldosteronism. Hydrochlorothiazide was effective in normalizing serum potassium levels and blood pressure. These studies exclude abnormalities in ANH and PG secretion in this disorder and are compatible with an abnormality in chloride reabsorption.
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PMID:Type II pseudohypoaldosteronism. Report of a case and review of the literature. 793 Mar 91

We describe a case of a 26 year old patient affected by a rare syndrome characterized by hyperkalemia, arterial hypertension and normal glomerular filtration rate (Gordon's syndrome), probably due to a renal tubular defect in the reabsorption of sodium or chloride. The patient, who had hyperkalemia since the age of 4 years, was referred to our Centre because of hypertension not well controlled with antihypertensive treatment. After drug therapy wash-out, we confirmed the existence of hypertension (180/100 mm Hg; ambulatory BP monitoring: 24-h mean BP = 151/91 mm Hg; 7 am-11 pm = 157/95; 11 pm-7 am: 133/82) and blood and urine tests showed hyperkalemia (6.6 mEq/L), hyperchloremia (115 mEq/L), mild metabolic acidosis (pH = 7.35, HCO3 = 19 mEq/L), low levels of plasma renin activity ( < 0.2 ng/ml/h), slight increase of plasma (1.08 nM/L) and daily urine aldosterone (129 nM) and normal serum creatinine (1.1 mg/dl) and glomerular filtration rate (91 ml/min). These data allowed to exclude the presence of renal failure and hyporeninemic hypoaldosteronism, which are the most common diseases with hypertension and hyperkalemia, and suggested the diagnosis of Gordon's syndrome. After 1 month of treatment with chlorthalidone (12.5 mg o.i.d) we observed the normalization of BP (130/80 mm Hg; ambulatory BP monitoring: 24-h BP: 132/76 mm), serum potassium (5,1 mEq/L) and the other blood and urine tests. These results were confirmed 6 months later and at present the patient has good clinical conditions.
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PMID:[Hypertension, hyperpotassemia and normal glomerular filtration (Gordon's syndrome): a case report]. 868 60

Essential hypertension is a common multifactorial trait. The molecular basis of a number of rare diseases that after blood pressure in humans has been established, identifying pathways that may be involved in more common forms of hypertension. Pseudohypoaldosteronism type II (PHAII, also known as familial hyperkalaemia and hypertension or Gordon's syndrome; OMIM #145260), is characterized by hyperkalaemia despite normal renal glomerular filtration, hypertension and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis and suppressed plasma renin activity are variable associated findings. The pathogenesis of PHAII is unknown, although clinical studies indicate an abnormality in renal ion transport. As thiazide diuretics are among the most efficacious agents in the treatment of essential hypertension, understanding the pathogenesis of PHAII may be of relevance to more common forms of hypertension. Analysis of linkage in eight PHAII families showing autosomal dominant transmission demonstrates locus heterogeneity of this trait, with a multilocus lod score of 8.1 for linkage of PHAII to chromosomes 1q31-q42 and 17p11-q21. Interestingly, the chromosome-17 locus overlaps a syntenic interval in rat that contains a blood pressure quantitative trait locus (QTL). Our findings provide a first step toward identification of the molecular basis of PHAII.
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PMID:Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. 917 36

A 27-year-old Turkish male presented with fatigue, long lasting hypertension, hyperkalemia, hyperchloremic metabolic acidosis and normal glomerular filtration rate. His brother also showed hyperkalemia with no other features of the disease. Plasma renin levels were low and serum aldosterone levels were inappropriately low-normal to his hyperkalemia. Plasma cortisol levels were normal. Plasma renin aldosterone levels responded appropriately to postural changes, salt restriction and saline infusion. Fludrocortisone was ineffective in his hyperkalemia. The conditions were consistent with Type II pseudohypoaldosteronism (PHA). Furosemide and sodium bicarbonate were effective to control his hyperchloremia, metabolic acidosis and hypertension but partly effective for his hyperkalemia. dDAVP alone did not control the situation and hypertension and metabolic derangement reoccurred. Adding dDAVP to furosemide and sodium bicarbonate successfully controlled hyperkalemia, hyperchloremic acidosis and hypertension. The patient stayed normotensive with normal metabolic and biochemical parameters after 6 months with furosemide and dADVP although sodium bicarbonate had been discontinued after the first month of therapy. dDAVP is a useful adjunct to furosemide and non chloride anions which altogether successfully reverse the metabolic derangement in Type II PHA.
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PMID:Furosemide and dDAVP for the treatment of pseudohypoaldosteronism type II. 949 9

Pseudohypoaldosteronism type II (PHA2) is a rare autosomal dominant form of volume-dependent low-renin hypertension characterized by hyperkalemia and hyperchloremic acidosis but also by a normal glomerular filtration rate. These features, together with the correction of blood pressure and metabolic abnormalities by small doses of thiazide diuretics, suggest a primary renal tubular defect. Two loci have previously been mapped at low resolution to chromosome 1q31-42 (PHA2A) and 17p11-q21 (PHA2B). We have now analyzed a new, large French pedigree, in which 12 affected members over three generations confirmed the autosomal dominant inheritance. Affected subjects had hypertension together with long-term hyperkalemia (range 5.2-6.2 mmol/liter), hyperchloremia (range: 100-109 mmol/liter), normal plasma creatinine (range: 63-129 mmol/liter) and low renin levels. Genetic linkage was excluded for both PHA2A and PHA2B loci (all LOD scores Z<-3.2 at recombination fraction [theta] 0), as well as for the thiazide-sensitive sodium-chloride cotransporter gene. A genome-wide scan using 383 microsatellite markers showed a strong linkage with the chromosome 12p13 region (maximum LOD score Z=6.18, straight theta=0, at D12S99). Haplotype analysis using 10 additional polymorphic markers led to a minimum 13-cM interval flanked by D12S1652 and D12S336, thus defining a new PHA2C locus. Analysis of two obvious candidate genes (SCNN1A and GNb3) located within the interval showed no deleterious mutation. In conclusion, we hereby demonstrate further genetic heterogeneity of this Mendelian form of hypertension and identify a new PHA2C locus, the most compelling and precise linkage interval described to date.
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PMID:A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. 1086 38


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