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Clinical features and accompanying findings of Pseudo‐Bartter Syndrome in cystic fibrosis
Pediatric Pulmonology, 2020Pseudo‐Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population.
T. Şişmanlar Eyuboglu +40 more
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Urologic Clinics of North America, 1977
The syndrome of juxtaglomerular hyperplasia with hypokalemic, hypochloremic alkalosis, aldosteronism, hyperreninemia, and normal blood pressure may be familial, and is probably inherited as a recessive trait. It can usually be distinguished from salt-losing chronic glomerulo-nephritis by the histologic appearance of the kidneys, and by the absence of ...
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The syndrome of juxtaglomerular hyperplasia with hypokalemic, hypochloremic alkalosis, aldosteronism, hyperreninemia, and normal blood pressure may be familial, and is probably inherited as a recessive trait. It can usually be distinguished from salt-losing chronic glomerulo-nephritis by the histologic appearance of the kidneys, and by the absence of ...
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Current Opinion in Nephrology and Hypertension, 2003
This review describes recent advances in our understanding of the genetic heterogeneity, pathophysiology and treatment of Bartter syndrome, a group of autosomal recessive disorders that are characterized by markedly reduced or absent salt transport by the thick ascending limb of Henle.
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This review describes recent advances in our understanding of the genetic heterogeneity, pathophysiology and treatment of Bartter syndrome, a group of autosomal recessive disorders that are characterized by markedly reduced or absent salt transport by the thick ascending limb of Henle.
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Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?
Pediatric Pulmonology, 2019Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well‐known clinical manifestation of CF termed Pseudo‐Bartter syndrome (PBS)
P. Poli +4 more
semanticscholar +1 more source
American Journal of Diseases of Children, 1979
• We were able to separate Bartter's syndrome patients into two groups: Group 1 patients are seen at a young age, with hyponatremia and episodes of extracellular volume contraction. Group 2 patients are older and most have tetany; plasma sodium values and renal sodium balances are normal.
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• We were able to separate Bartter's syndrome patients into two groups: Group 1 patients are seen at a young age, with hyponatremia and episodes of extracellular volume contraction. Group 2 patients are older and most have tetany; plasma sodium values and renal sodium balances are normal.
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1987
Our understanding of the pathogenesis of Bartter’s syndrome, although not complete, has evolved greatly since the first description of the disorder in 1962 (1). This chapter reviews the salient features of the syndrome, discussing previous and current concepts of its etiology and treatment, as well as the pathogenesis of the multiple hormonal ...
Mark D. Okusa, Margaret Johnson Bia
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Our understanding of the pathogenesis of Bartter’s syndrome, although not complete, has evolved greatly since the first description of the disorder in 1962 (1). This chapter reviews the salient features of the syndrome, discussing previous and current concepts of its etiology and treatment, as well as the pathogenesis of the multiple hormonal ...
Mark D. Okusa, Margaret Johnson Bia
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A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I
Annals of Human Genetics, 2019Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe ...
D. Halperin +9 more
semanticscholar +1 more source
Growth hormone deficiency in children with antenatal Bartter syndrome
Journal of Pediatric Endocrinology & Metabolism (JPEM), 2019Background Bartter syndrome is a group of rare autosomal-recessive renal disorders characterized by hypokalemic hypochloremic metabolic alkalosis associated with severe growth failure; the exact causes for growth retardation are unclear.
Inna Spector-Cohen +4 more
semanticscholar +1 more source
Amiloride in Bartter's syndrome
Clinical Pharmacology and Therapeutics, 1982Hypokalemia in Bartter's syndrome (BS) is often difficult to correct despite all measures. Amiloride is a new potassium-sparing diuretic that blocks sodium channels in distal renal tubular cells, independent of aldosterone. Four patients with BS were studied, in an outpatient clinic, while on amiloride therapy (10 to 40 mg/day).
G T, Griffing +4 more
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