The Experts below are selected from a list of 300 Experts worldwide ranked by ideXlab platform
Aaron Hanukoglu - One of the best experts on this subject based on the ideXlab platform.
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pulmonary epithelial sodium channel dysfunction and excess airway liquid in Pseudohypoaldosteronism
The New England Journal of Medicine, 1999Co-Authors: Eitan Kerem, Tzvy Bistritzer, Zhaoqing Zhou, William D Bennett, E Maclaughlin, Pierre M Barker, M Nash, T. Hofmann, Aaron Hanukoglu, Lynne M QuittellAbstract:Background Active sodium absorption is the dominant mechanism of ion transport in airway epithelium, but its role in pulmonary physiology and airway host defense is unknown. To address this question, we studied the function of airway epithelial cells and determined the frequency of pulmonary symptoms in patients with systemic Pseudohypoaldosteronism, a salt-losing disorder caused by loss-of-function mutations in the genes for the epithelial sodium channel. Methods In nine patients 1.5 to 22 years of age who had systemic Pseudohypoaldosteronism, we tested for mutations in the genes for the epithelial sodium channel, estimated the rate of sodium transport in the airway, determined the volume and ion composition of airway surface liquid, reviewed clinical features, collected laboratory data pertinent to pulmonary function, and, in three adults, measured mucociliary clearance. Results The patients with systemic Pseudohypoaldosteronism had loss-of-function mutations in the genes for the epithelial sodium-chann...
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Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in Pseudohypoaldosteronism
The New England journal of medicine, 1999Co-Authors: Eitan Kerem, Tzvy Bistritzer, Zhaoqing Zhou, William D Bennett, E Maclaughlin, Pierre M Barker, M Nash, T. Hofmann, Aaron Hanukoglu, Lynne M QuittellAbstract:Active sodium absorption is the dominant mechanism of ion transport in airway epithelium, but its role in pulmonary physiology and airway host defense is unknown. To address this question, we studied the function of airway epithelial cells and determined the frequency of pulmonary symptoms in patients with systemic Pseudohypoaldosteronism, a salt-losing disorder caused by loss-of-function mutations in the genes for the epithelial sodium channel. In nine patients 1.5 to 22 years of age who had systemic Pseudohypoaldosteronism, we tested for mutations in the genes for the epithelial sodium channel, estimated the rate of sodium transport in the airway, determined the volume and ion composition of airway surface liquid, reviewed clinical features, collected laboratory data pertinent to pulmonary function, and, in three adults, measured mucociliary clearance. The patients with systemic Pseudohypoaldosteronism had loss-of-function mutations in the genes for the epithelial sodium-channel subunits, no sodium absorption from airway surfaces, and a volume of airway surface liquid that was more than twice the normal value. The mean (+/-SE) mucociliary transport rate was higher in the 3 adult patients than in 12 normal subjects (2.0+/-0.7 vs. 0.5+/-0.3 percent per minute, P=0.009). Young patients (those five years of age or less) all had recurrent episodes of chest congestion, coughing, and wheezing, but no airway infections with Staphylococcus aureus or Pseudomonas aeruginosa. Older patients (those more than five years of age) had less frequent respiratory symptoms. Patients with systemic Pseudohypoaldosteronism fail to absorb liquid from airway surfaces; the result is an increased volume of liquid in the airways. These results demonstrate that sodium transport has a role in regulating the volume of liquid on airway surfaces.
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Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis.
The Journal of pediatrics, 1994Co-Authors: Aaron Hanukoglu, Tzvy Bistritzer, Y Rakover, A MandelbergAbstract:Four patients with severe Pseudohypoaldosteronism caused by multiple end-organ resistance to aldosterone had frequently recurring lower respiratory tract infections and persistently elevated sweat and saliva electrolyte values. The increased saliva electrolyte values in these patients probably affect normal mucociliary function in the respiratory tract and facilitate the occurrence of frequent lower respiratory tract involvement. Patients with Pseudohypoaldosteronism may require treatment similar to that for cystic fibrosis to prevent long-term respiratory complications.
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Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis
The Journal of Pediatrics, 1994Co-Authors: Aaron Hanukoglu, Tzvy Bistritzer, Y Rakover, A MandelbergAbstract:Abstract Four patients with severe Pseudohypoaldosteronism caused by multiple end- organ resistance to aldosterone had frequently recurring lower respiratory tract infections and persistently elevated sweat and saliva electrolyte values. The increased saliva electrolyte values in these patients probably affect normal mucociliary function in the respiratory tract and facilitate the occurrence of frequent lower respiratory tract involvement. Patients with Pseudohypoaldosteronism may require treatment similar to that for cystic fibrosis to prevent long- term respiratory complications. (J P EDIATR 1994;125:752-5)
A Mandelberg - One of the best experts on this subject based on the ideXlab platform.
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Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis.
The Journal of pediatrics, 1994Co-Authors: Aaron Hanukoglu, Tzvy Bistritzer, Y Rakover, A MandelbergAbstract:Four patients with severe Pseudohypoaldosteronism caused by multiple end-organ resistance to aldosterone had frequently recurring lower respiratory tract infections and persistently elevated sweat and saliva electrolyte values. The increased saliva electrolyte values in these patients probably affect normal mucociliary function in the respiratory tract and facilitate the occurrence of frequent lower respiratory tract involvement. Patients with Pseudohypoaldosteronism may require treatment similar to that for cystic fibrosis to prevent long-term respiratory complications.
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Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis
The Journal of Pediatrics, 1994Co-Authors: Aaron Hanukoglu, Tzvy Bistritzer, Y Rakover, A MandelbergAbstract:Abstract Four patients with severe Pseudohypoaldosteronism caused by multiple end- organ resistance to aldosterone had frequently recurring lower respiratory tract infections and persistently elevated sweat and saliva electrolyte values. The increased saliva electrolyte values in these patients probably affect normal mucociliary function in the respiratory tract and facilitate the occurrence of frequent lower respiratory tract involvement. Patients with Pseudohypoaldosteronism may require treatment similar to that for cystic fibrosis to prevent long- term respiratory complications. (J P EDIATR 1994;125:752-5)
Tzvy Bistritzer - One of the best experts on this subject based on the ideXlab platform.
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pulmonary epithelial sodium channel dysfunction and excess airway liquid in Pseudohypoaldosteronism
The New England Journal of Medicine, 1999Co-Authors: Eitan Kerem, Tzvy Bistritzer, Zhaoqing Zhou, William D Bennett, E Maclaughlin, Pierre M Barker, M Nash, T. Hofmann, Aaron Hanukoglu, Lynne M QuittellAbstract:Background Active sodium absorption is the dominant mechanism of ion transport in airway epithelium, but its role in pulmonary physiology and airway host defense is unknown. To address this question, we studied the function of airway epithelial cells and determined the frequency of pulmonary symptoms in patients with systemic Pseudohypoaldosteronism, a salt-losing disorder caused by loss-of-function mutations in the genes for the epithelial sodium channel. Methods In nine patients 1.5 to 22 years of age who had systemic Pseudohypoaldosteronism, we tested for mutations in the genes for the epithelial sodium channel, estimated the rate of sodium transport in the airway, determined the volume and ion composition of airway surface liquid, reviewed clinical features, collected laboratory data pertinent to pulmonary function, and, in three adults, measured mucociliary clearance. Results The patients with systemic Pseudohypoaldosteronism had loss-of-function mutations in the genes for the epithelial sodium-chann...
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Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in Pseudohypoaldosteronism
The New England journal of medicine, 1999Co-Authors: Eitan Kerem, Tzvy Bistritzer, Zhaoqing Zhou, William D Bennett, E Maclaughlin, Pierre M Barker, M Nash, T. Hofmann, Aaron Hanukoglu, Lynne M QuittellAbstract:Active sodium absorption is the dominant mechanism of ion transport in airway epithelium, but its role in pulmonary physiology and airway host defense is unknown. To address this question, we studied the function of airway epithelial cells and determined the frequency of pulmonary symptoms in patients with systemic Pseudohypoaldosteronism, a salt-losing disorder caused by loss-of-function mutations in the genes for the epithelial sodium channel. In nine patients 1.5 to 22 years of age who had systemic Pseudohypoaldosteronism, we tested for mutations in the genes for the epithelial sodium channel, estimated the rate of sodium transport in the airway, determined the volume and ion composition of airway surface liquid, reviewed clinical features, collected laboratory data pertinent to pulmonary function, and, in three adults, measured mucociliary clearance. The patients with systemic Pseudohypoaldosteronism had loss-of-function mutations in the genes for the epithelial sodium-channel subunits, no sodium absorption from airway surfaces, and a volume of airway surface liquid that was more than twice the normal value. The mean (+/-SE) mucociliary transport rate was higher in the 3 adult patients than in 12 normal subjects (2.0+/-0.7 vs. 0.5+/-0.3 percent per minute, P=0.009). Young patients (those five years of age or less) all had recurrent episodes of chest congestion, coughing, and wheezing, but no airway infections with Staphylococcus aureus or Pseudomonas aeruginosa. Older patients (those more than five years of age) had less frequent respiratory symptoms. Patients with systemic Pseudohypoaldosteronism fail to absorb liquid from airway surfaces; the result is an increased volume of liquid in the airways. These results demonstrate that sodium transport has a role in regulating the volume of liquid on airway surfaces.
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Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis.
The Journal of pediatrics, 1994Co-Authors: Aaron Hanukoglu, Tzvy Bistritzer, Y Rakover, A MandelbergAbstract:Four patients with severe Pseudohypoaldosteronism caused by multiple end-organ resistance to aldosterone had frequently recurring lower respiratory tract infections and persistently elevated sweat and saliva electrolyte values. The increased saliva electrolyte values in these patients probably affect normal mucociliary function in the respiratory tract and facilitate the occurrence of frequent lower respiratory tract involvement. Patients with Pseudohypoaldosteronism may require treatment similar to that for cystic fibrosis to prevent long-term respiratory complications.
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Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis
The Journal of Pediatrics, 1994Co-Authors: Aaron Hanukoglu, Tzvy Bistritzer, Y Rakover, A MandelbergAbstract:Abstract Four patients with severe Pseudohypoaldosteronism caused by multiple end- organ resistance to aldosterone had frequently recurring lower respiratory tract infections and persistently elevated sweat and saliva electrolyte values. The increased saliva electrolyte values in these patients probably affect normal mucociliary function in the respiratory tract and facilitate the occurrence of frequent lower respiratory tract involvement. Patients with Pseudohypoaldosteronism may require treatment similar to that for cystic fibrosis to prevent long- term respiratory complications. (J P EDIATR 1994;125:752-5)
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Reduced Na+, K(+)-ATPase activity in patients with Pseudohypoaldosteronism.
Pediatric research, 1994Co-Authors: Tzvy Bistritzer, Sandra Evans, Dita Cotariu, Michael R. Goldberg, Mordechai AladjemAbstract:ABSTRACT: Pseudohypoaldosteronism is a hereditary salt-wasting syndrome usually seen in infancy with weight loss, dehydration, and failure to thrive. The patho-physiologic origin of Pseudohypoaldosteronism is unknown. The defect could be related to the unresponsiveness of target organs to mineralocorticoids resulting in hypo-natremia, hyperkalemia, and markedly elevated plasma aldostcrone and renin levels. Red blood cell Na+, K+-ATP-ase activity was measured in a pair of twins with pseudo-hypoaldosteronism, in an unrelated child with hypoaldos-teronism, and in an age-matched group of 50 healthy infants and young children. The enzyme was assayed by a method that couples ATP hydrolysis with NADH oxidation. Plasma renin and aldosterone levels were measured by RIA. Red blood cell Na+,K+-ATPase activity in the twins with Pseudohypoaldosteronism was very low at the time of diagnosis (3 wk). In both twins a time-related gradual increase in enzyme activity was observed during the 1st mo of life, reaching control values between 6 and 8 mo of age. This increase was associated with both a reduction in salt requirement and clinical improvement. Plasma renin activity and aldosterone levels were very high at the time of diagnosis. Plasma renin activity reverted gradually to normal values, whereas aldosterone levels remained high throughout the follow-up period. The child with hypoal-dosteronism had normal Na+,K+-ATPase activity at diagnosis and during follow-up.
Y Rakover - One of the best experts on this subject based on the ideXlab platform.
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Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis.
The Journal of pediatrics, 1994Co-Authors: Aaron Hanukoglu, Tzvy Bistritzer, Y Rakover, A MandelbergAbstract:Four patients with severe Pseudohypoaldosteronism caused by multiple end-organ resistance to aldosterone had frequently recurring lower respiratory tract infections and persistently elevated sweat and saliva electrolyte values. The increased saliva electrolyte values in these patients probably affect normal mucociliary function in the respiratory tract and facilitate the occurrence of frequent lower respiratory tract involvement. Patients with Pseudohypoaldosteronism may require treatment similar to that for cystic fibrosis to prevent long-term respiratory complications.
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Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis
The Journal of Pediatrics, 1994Co-Authors: Aaron Hanukoglu, Tzvy Bistritzer, Y Rakover, A MandelbergAbstract:Abstract Four patients with severe Pseudohypoaldosteronism caused by multiple end- organ resistance to aldosterone had frequently recurring lower respiratory tract infections and persistently elevated sweat and saliva electrolyte values. The increased saliva electrolyte values in these patients probably affect normal mucociliary function in the respiratory tract and facilitate the occurrence of frequent lower respiratory tract involvement. Patients with Pseudohypoaldosteronism may require treatment similar to that for cystic fibrosis to prevent long- term respiratory complications. (J P EDIATR 1994;125:752-5)
Ursula Kuhnle - One of the best experts on this subject based on the ideXlab platform.
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Pseudohypoaldosteronism: mutation found, problem solved?
Molecular and cellular endocrinology, 1997Co-Authors: Ursula KuhnleAbstract:Abstract The term `Pseudohypoaldosteronism' includes at least three distinct clinical syndromes, classified as type I, II and III, which differ in their clinical and biochemical findings but have in common the symptoms of mineralocorticoid resistance. The finding of a defect in the recently cloned epithelial sodium channel (ENaC) in a subgroup of familial Pseudohypoaldosteronism type I has changed our understanding not only of the pathophysiology of these disorders but also the physiology of renal salt and water homeostasis. In this review the various clinical, biochemical and genetic findings in the different forms of Pseudohypoaldosteronism will be discussed with the aim of identifying the underlying differences and similarities. The direction of further genetic investigations will depend at least in large part on further clinical classification of patients and families.
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Impaired rapid mineralocorticoid action on free intracellular calcium in Pseudohypoaldosteronism
The Journal of clinical endocrinology and metabolism, 1997Co-Authors: Fernando Gamarra, Ursula Kuhnle, Gunter Simic-schleicher, Rudolf M. Huber, Axel Ulsenheimer, Peter Christian Scriba, Martin WehlingAbstract:Earlier observations on impaired in vitro effects of aldosterone on lymphocytic sodium and potassium pointed to the involvement of a defective nongenomic rather than genomic effector in Pseudohypoaldosteronism. In this study, we investigated nongenomic aldosterone action in five patients with Pseudohypoaldosteronism with regard to a rapid increase of free intracellular calcium[ Ca2+]i in cultured nasal epithelial cells, assumably reflecting calcium influx through calcium channels. Patients were defined by episodes of salt loss despite high plasma aldosterone and renin levels. Four unaffected members of the families and four independent subjects served as controls. Considering an aldosterone-induced increase of [Ca2+]i by at least 10 nm as positive response, only 12% of cells from patients were responsive compared with 25% in normal subjects (P< 0.05). In terms of absolute changes, mean increase of[ Ca2+]i was 1.6 ± 1.1 nm in the patients (range - 1–4) and 9.5 ± 2.7 nm (P< 0.025) in the controls (range 1–2...
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Pseudohypoaldosteronism: evaluation of type I receptors by radioreceptor assay and by antireceptor antibodies.
Steroids, 1995Co-Authors: Decio Armanini, C. Pratesi, I. Karbowiak, Christina M. Zennaro, Stefania Zovato, Paola De Lazzari, Zygmunt Krozowski, Ursula KuhnleAbstract:We have previously demonstrated a deficiency of mineralocorticoid receptors in Pseudohypoaldosteronism, by radioreceptorassay. We now report findings with an antireceptor antibody derived from the immunogenic region of the receptor. Lymphocytes from normal controls and from two cases of Pseudohypoaldosteronism previously shown to lack receptor binding were tested. After the plasma membrane of lymphocytes was permeabilized with methanol the cells were incubated with a 1:200 dilution of antibody followed by fluorescent antirabbit immunoglobulin mouse serum. After washing fluorescence was detected by microscopy and cytofluorimetry in both controls and patients with Pseudohypoaldosteronism. Recent studies on mineralocorticoid receptor cDNA in Pseudohypoaldosteronism have not established a mutation in the sequence. We thus suggest that the pathogenesis of Pseudohypoaldosteronism is not related to an abnormality of the receptor but rather due to intracellular factor(s) which can block the binding of aldosterone to its receptor.
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transient Pseudohypoaldosteronism in obstructive renal disease with transient reduction of lymphocytic aldosterone receptors results in two affected infants
Hormone Research in Paediatrics, 1993Co-Authors: Ursula Kuhnle, M Sonega, Wolfgang Hübl, Graziella Guariso, G. K. Hinkel, Decio ArmaniniAbstract:We report two patients with transient Pseudohypoaldosteronism due to obstructive renal disease. Both patients presented with a salt-losing episode simulating adrenal insufficiency. In one patient, transient reduction of aldosterone receptors could be documented, while in the second patient the clinical and biochemical parameters were consistent with transient Pseudohypoaldosteronism. Aldosterone receptors were normal in both patients when studied after the surgical correction of the obstruction.
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Pseudohypoaldosteronism and mineralocorticoid receptor abnormalities.
The Journal of Steroid Biochemistry and Molecular Biology, 1991Co-Authors: Decio Armanini, Martin Wehling, L. Da Dalt, M. Zennaro, U. Scali, U. Keller, C. Pratesi, F. Mantero, Ursula KuhnleAbstract:Abstract Pseudohypoaldosteronism is a rare inherited disease characterized by renal salt loss, hyperkalemia and metabolic acidosis despite highly elevated aldosterone values. We previously reported absent or reduced numbers of mineralocorticoid receptors in mononuclear leukocytes and defective effector mechanism as shown by no response in vitro to the incubation of aldosterone in terms of intracellular electrolyte content. We have studied the inheritance of this disorder in ten families and found two different kinds of inheritance: autosomal recessive—often in interrelated families—and autosomal dominant in unrelated families. Parallel studies in the families with the autosomal dominant form of inheritance demonstrated in addition that the effector mechanism of aldosterone is impaired in vitro both in the affected patients and in the carrier relatives characterized by a low number of mineralocorticoid receptors.
