Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes

Bettinelli, Alberto; Bianchetti, Mario G.; Girardin, Éric; Caringella, Angela; Cecconi, Milvia; Appiani, Aldo Claris; Pavanello, Luigi; Gastaldi, Roberto; Isimbaldi, Clementina; Lama, Giuliana; Marchesoni, Carlo; Matteucci, Maria Chiara; Patriarca, Pierluigi; Natale, B. Di; Setzu, Carmen; Vitucci, Pasqua

doi:10.1016/s0022-3476(05)80594-3

Cited by 321 publications

(222 citation statements)

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“…Hence, symptoms in Gitelman's syndrome are less severe than in Bartter's syndrome, and include hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria (in strict contrast to hypercalciuria in Bartter's syndrome) in addition to low normal blood pressure or overt hypotension, mirroring the situation of extensive thiazide diuretics intake. Patients typically present with non-specific neuromuscular signs in adolescence or young adulthood (Bettinelli et al 1992). The tubular loss of salt is counterbalanced by an activation of the renin-angiotensin-aldosterone system that leads to increased Na + reabsorption via ENaC channels in the cortical collecting duct, at the expense of enhanced K + and H + excretion.…”

Section: Monogenic Hypotensionmentioning

confidence: 99%

Genetics of arterial hypertension and hypotension

Rosskopf

Schürks

Rimmbach

et al. 2007

Naunyn-Schmied Arch Pharmacol

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Human hypertension affects affects more than 20% of the adult population in industrialized countries, and it is implicated in millions of deaths worldwide each year from stroke, heart failure and ischemic heart disease. Available evidence suggests a major genetic impact on blood pressure regulation. Studies in monogenic hypertension revealed that renal salt and volume regulation systems are predominantly involved in the genesis of these disorders. Mutations here affect the synthesis of mineralocorticoids, the function of the mineralocorticoid receptor, epithelial sodium channels and their regulation by a new class of kinases, termed WNK kinases. It has been learned from monogenic hypotension that almost all ion transporters involved in the renal uptake of Na + have a major impact on blood pressure regulation. For essential hypertension as a complex disease, many candidate genes have been analysed. These include components of the reninangiotensin-aldosterone system, adducin, β-adrenoceptors, G protein subunits, regulators of G protein signalling (RGS) proteins, Rho kinases and G protein receptor kinases. At present, the individual impact of common polymorphisms in these genes on the observed blood pressure variation, on risk for stroke and as predictors of antihypertensive responses remains small and clinically irrelevant. Nevertheless, these studies have greatly augmented our knowledge on the regulation of renal functions, cellular signal transduction and the integration of both. Together, this provides the basis for the identification of novel drug targets and, hopefully, innovative antihypertensive drugs.

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Section: Monogenic Hypotensionmentioning

confidence: 99%

Genetics of arterial hypertension and hypotension

Rosskopf

Schürks

Rimmbach

et al. 2007

Naunyn-Schmied Arch Pharmacol

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“…The present investigation was performed in children and adolescents with Gitelman's syndrome, the hypocalciurica variant of Bartter's syndrome [1][2][3][4][5][6][7][8][9]. The study provides information on three phenomena, one dealing with the mechanisms underlying magnesium deficiency, one dealing with the mechanisms underlying hypocalciuria, and one dealing with the site of the renal tubular dysfunction.…”

Section: Results Discussionmentioning

confidence: 99%

“…Blood pressure, plasma creatinine, urinalysis, and renal ultrasound were normal. Diagnosis of Gitelman's syndrome was based on the presence [3] of normal blood pressure, venous blood pH>7.38, plasma bicarbonate > 28.0 mmol/1, plasma potassium <3.5mmol/l, plasma magnesium <0.75 mmol/1 (by colorimetric assay), molar ratio of urinary calcium over creatinine < 0.100, urinary chloride over creatinine >8.42 [10], urinary magnesium over creatinine > 0.150 and negative urinary screen for diuretics. The Z scores for height (from -1.8 to 1.3) and body weight (from -1.7 to 1.4) were normal.…”

Section: Methodsmentioning

confidence: 99%

“…Patients with this tubulopathy, which is inherited in both dominant and recessive fashions [9], are often asymptomatic, with the exception of muscular weakness and transient episodes of tetany that are sometimes accompanied by abdominal pain, vomiting and fever [1][2][3][4][5][6][7][8][9].…”

mentioning

confidence: 99%

“…Since the need for distinguishing between classic Bartter's syndrome and Gitelman's syndrome has been challenged until recently [3][4][5][6][7][8][9], information on renal tubular function in this particular disorder is scanty and based on anecdotal reports [1,2,[4][5][6][7][8] and a retrospective multicentric inquiry [3]. To address this issue, simple renal tubular function studies were performed in 14 patients with Gitelman's syndrome on follow-up at our centres of Pediatric Nephrology.…”

mentioning

confidence: 99%

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Renal tubular function in children and adolescents with Gitelnian's syndrome, the hypocalciuric variant of Bartter's syndrome

Peters

Bettinelli

Spicher

et al. 1995

Nephrology Dialysis Transplantation

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Abstract. Renal tubular function was studied in 14 patients with Gitelman's syndrome and 14 control subjects. Apart from the biochemical hallmarks of Gitelman's syndrome, namely alkalaemia, hyperbicarbonataemia, hypokalaemia, hypomagnesaemia (with increased magnesium over creatinine ratio), increased urinary chloride over creatinine ratio, and low urinary calcium over creatinine, the patients were found to have hyperproteinaemia, hypochloraemia, high total plasma calcium concentration, reduced plasma ionized calcium concentration, and high urinary sodium excretion. A statistically significant negative linear relationship between plasma magnesium concentration and magnesium excretion corrected for glomerular filtration was observed in patients. The fractional calcium clearance and the urinary excretion of calcium corrected for glomerular filtration was significantly decreased in patients. In patients the urinary osmolality after overnight water deprivation ranged from 526 to 1067 mmol/kg. Glucosuria and aminoaciduria were similar in patients and controls. The results of the study demonstrate the renal origin of hypomagnesaemia and hypocalciuria in Gitelman's syndrome. The failure to demonstrate hyperaminoaciduria, hyperglucosuria, hyperphosphaturia, hyperuricosuria, and severely impaired urinary concentrating ability provide evidence for a defect residing in the distal convoluted tubule.

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