The Experts below are selected from a list of 879 Experts worldwide ranked by ideXlab platform

Richard P Lifton - One of the best experts on this subject based on the ideXlab platform.

  • SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
    Pediatric Nephrology, 2012
    Co-Authors: Ute I Scholl, Haatal B. Dave, James A. Listman, Anita Farhi, Carol Nelson-williams, Ming Lu, Richard P Lifton
    Abstract:

    Background Mutations in the K+ channel KCNJ10 (Kir4.1) cause an autosomal recessive syndrome featuring seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME). Kir4.1 localizes to the basolateral membrane of the renal distal convoluted tubule, and its loss of function mimics renal features of Gitelman syndrome, with Hypokalemic Alkalosis, hypomagnesemia, and hypocalciuria. Presentation early in life due to seizures provides an opportunity to investigate the development of the electrolyte defect with age.

  • Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans
    Hypertension (Dallas Tex. : 1979), 2001
    Co-Authors: Dinna N. Cruz, Anita Farhi, Carol Nelson-williams, D. B. Simon, John R. Gill, Karin E. Finberg, Laura Burleson, Richard P Lifton
    Abstract:

    Abstract —The relationship between salt homeostasis and blood pressure has remained difficult to establish from epidemiological studies of the general population. Recently, mendelian forms of hypertension have demonstrated that mutations that increase renal salt balance lead to higher blood pressure, suggesting that mutations that decrease the net salt balance might have the converse effect. Gitelman’s syndrome, caused by loss of function mutations in the Na-Cl cotransporter of the distal convoluted tubule ( NCCT ), features inherited Hypokalemic Alkalosis with so-called “normal” blood pressure. We hypothesized that the mild salt wasting of Gitelman’s syndrome results in reduced blood pressure and protection from hypertension. We have formally addressed this question through the study of 199 members of a large Amish kindred with Gitelman’s syndrome. Through genetic testing, family members were identified as inheriting 0 (n=60), 1 (n=113), or 2 (n=26) mutations in NCCT , permitting an unbiased assessment of the clinical consequences of inheriting these mutations by comparison of the phenotypes of relatives with contrasting genotypes. The results demonstrate high penetrance of Hypokalemic Alkalosis, hypomagnesemia, and hypocalciuria in patients inheriting 2 mutant NCCT alleles. In addition, the NCCT genotype was a significant predictor of blood pressure, with homozygous mutant family members having significantly lower age- and gender-adjusted systolic and diastolic blood pressures than those of their wild-type relatives. Moreover, both homozygote and heterozygote subjects had significantly higher 24-hour urinary Na + than did wild-type subjects, reflecting a self-selected higher salt intake. Finally, heterozygous children, but not adults, had significantly lower blood pressures than those of the wild-type relatives. These findings provide formal demonstration that inherited mutations that impair renal salt handling lower blood pressure in humans.

  • Ion transporter and channel mutations in Bartter's and Gitelman's syndromes of inherited Hypokalemic Alkalosis
    Clinical and Experimental Nephrology, 1998
    Co-Authors: D. B. Simon, Richard P Lifton
    Abstract:

    The use of modern molecular genetics techniques in defining the pathogenesis of classic diseases in clinical nephrology is exemplified by a recent description of the molecular basis of Bartter's and Gitelman's syndromes. A series of recent studies has identified specific mutations in 4 different genes, each of which causes Hypokalemic Alkalosis, salt wasting and hypotension. The importance of these gentic studies in understanding renal physiology and the regulation of blood pressure, and in developing new therapeutic strategies, is discusseds.

  • Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes.
    Current opinion in cell biology, 1998
    Co-Authors: D. B. Simon, Richard P Lifton
    Abstract:

    Abstract The successful merging of modern molecular genetics with basic renal physiology is exemplified by the recent description of the molecular basis of two classic diseases of clinical nephrology: Bartter's and Gitelman's syndromes of inherited Hypokalemic Alkalosis. Mutations in four different genes have been identified, each of which causes Hypokalemic Alkalosis, salt wasting and hypotension. These genetic studies have greatly advanced our understanding of renal physiology.

  • Ion transporter mutations in Gitelman's and Bartter's syndromes.
    Current opinion in nephrology and hypertension, 1998
    Co-Authors: D. B. Simon, Richard P Lifton
    Abstract:

    The application of modern techniques in molecular genetics to classic diseases in clinical nephrology is highlighted by the recent description of the molecular basis of Bartter's and Gitelman's syndromes. A series of detailed studies are described that have resulted in the identification of specific mutations in four different genes, each of which causes Hypokalemic Alkalosis, salt wasting and hypotension. The importance of these genetic studies in understanding renal physiology and the regulation of blood pressure, and in developing new therapeutic strategies is discussed.

Saad Sheta - One of the best experts on this subject based on the ideXlab platform.

  • Anesthetic management of a patient with Bartter's syndrome undergoing bilateral sagittal split osteotomy
    Saudi journal of anaesthesia, 2012
    Co-Authors: Nasser Nooh, Walid Ahmed Abdullah, Saad Sheta
    Abstract:

    Bartter's syndrome is an unusual (estimated incidence is 1.2 per million people) but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes. It is associated with hypertrophy and hyperplasia of the juxtaglomerular cells, normal blood pressure, and Hypokalemic Alkalosis withoutedema.We present a 22-year-old woman with Bartter's syndrome underwent bilateral sagittal split osteotomy to correct mandibular prognathic. The anesthetic management of Bartter's syndrome should be relevant to the pathophysiology of the syndrome. Therefore, it should be directed toward maintaining cardiovascular stability, control of associated fluid, electrolyte and acid-base derangements, and the prevention of renal damage.

  • Anesthetic management of a patient with Bartter′s syndrome undergoing bilateral sagittal split osteotomy
    Wolters Kluwer Medknow Publications, 2012
    Co-Authors: Nasser Nooh, Walid Abdullah, Saad Sheta
    Abstract:

    Bartter′s syndrome is an unusual (estimated incidence is 1.2 per million people) but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes. It is associated with hypertrophy and hyperplasia of the juxtaglomerular cells, normal blood pressure, and Hypokalemic Alkalosis withoutedema.We present a 22-year-old woman with Bartter′s syndrome underwent bilateral sagittal split osteotomy to correct mandibular prognathic. The anesthetic management of Bartter′s syndrome should be relevant to the pathophysiology of the syndrome. Therefore, it should be directed toward maintaining cardiovascular stability, control of associated fluid, electrolyte and acid-base derangements, and the prevention of renal damage

D. B. Simon - One of the best experts on this subject based on the ideXlab platform.

  • Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans
    Hypertension (Dallas Tex. : 1979), 2001
    Co-Authors: Dinna N. Cruz, Anita Farhi, Carol Nelson-williams, D. B. Simon, John R. Gill, Karin E. Finberg, Laura Burleson, Richard P Lifton
    Abstract:

    Abstract —The relationship between salt homeostasis and blood pressure has remained difficult to establish from epidemiological studies of the general population. Recently, mendelian forms of hypertension have demonstrated that mutations that increase renal salt balance lead to higher blood pressure, suggesting that mutations that decrease the net salt balance might have the converse effect. Gitelman’s syndrome, caused by loss of function mutations in the Na-Cl cotransporter of the distal convoluted tubule ( NCCT ), features inherited Hypokalemic Alkalosis with so-called “normal” blood pressure. We hypothesized that the mild salt wasting of Gitelman’s syndrome results in reduced blood pressure and protection from hypertension. We have formally addressed this question through the study of 199 members of a large Amish kindred with Gitelman’s syndrome. Through genetic testing, family members were identified as inheriting 0 (n=60), 1 (n=113), or 2 (n=26) mutations in NCCT , permitting an unbiased assessment of the clinical consequences of inheriting these mutations by comparison of the phenotypes of relatives with contrasting genotypes. The results demonstrate high penetrance of Hypokalemic Alkalosis, hypomagnesemia, and hypocalciuria in patients inheriting 2 mutant NCCT alleles. In addition, the NCCT genotype was a significant predictor of blood pressure, with homozygous mutant family members having significantly lower age- and gender-adjusted systolic and diastolic blood pressures than those of their wild-type relatives. Moreover, both homozygote and heterozygote subjects had significantly higher 24-hour urinary Na + than did wild-type subjects, reflecting a self-selected higher salt intake. Finally, heterozygous children, but not adults, had significantly lower blood pressures than those of the wild-type relatives. These findings provide formal demonstration that inherited mutations that impair renal salt handling lower blood pressure in humans.

  • Ion transporter and channel mutations in Bartter's and Gitelman's syndromes of inherited Hypokalemic Alkalosis
    Clinical and Experimental Nephrology, 1998
    Co-Authors: D. B. Simon, Richard P Lifton
    Abstract:

    The use of modern molecular genetics techniques in defining the pathogenesis of classic diseases in clinical nephrology is exemplified by a recent description of the molecular basis of Bartter's and Gitelman's syndromes. A series of recent studies has identified specific mutations in 4 different genes, each of which causes Hypokalemic Alkalosis, salt wasting and hypotension. The importance of these gentic studies in understanding renal physiology and the regulation of blood pressure, and in developing new therapeutic strategies, is discusseds.

  • Mutations in Na(K)Cl transporters in Gitelman's and Bartter's syndromes.
    Current opinion in cell biology, 1998
    Co-Authors: D. B. Simon, Richard P Lifton
    Abstract:

    Abstract The successful merging of modern molecular genetics with basic renal physiology is exemplified by the recent description of the molecular basis of two classic diseases of clinical nephrology: Bartter's and Gitelman's syndromes of inherited Hypokalemic Alkalosis. Mutations in four different genes have been identified, each of which causes Hypokalemic Alkalosis, salt wasting and hypotension. These genetic studies have greatly advanced our understanding of renal physiology.

  • Ion transporter mutations in Gitelman's and Bartter's syndromes.
    Current opinion in nephrology and hypertension, 1998
    Co-Authors: D. B. Simon, Richard P Lifton
    Abstract:

    The application of modern techniques in molecular genetics to classic diseases in clinical nephrology is highlighted by the recent description of the molecular basis of Bartter's and Gitelman's syndromes. A series of detailed studies are described that have resulted in the identification of specific mutations in four different genes, each of which causes Hypokalemic Alkalosis, salt wasting and hypotension. The importance of these genetic studies in understanding renal physiology and the regulation of blood pressure, and in developing new therapeutic strategies is discussed.

  • The molecular basis of inherited Hypokalemic Alkalosis: Bartter's and Gitelman's syndromes
    American Journal of Physiology-Renal Physiology, 1996
    Co-Authors: D. B. Simon, Richard P Lifton
    Abstract:

    Hypokalemic Alkalosis with low blood pressure can be caused by a number of medications or alternatively as an autosomal recessive genetic trait. Molecular genetic approaches to this problem have recently demonstrated that mutations in genes encoding the thiazide-sensitive Na-Cl cotransporter or the bumetanide-sensitive Na-K-2Cl cotransporter produce two distinctive clinical and physiological pictures featuring Hypokalemic Alkalosis. Mutations in the latter cause a phenotypic picture called Bartter's syndrome that includes marked hypercalciuria and neonatal presentation with marked intravascular volume depletion. Mutations in the former cotransporter result in Gitelman's syndrome, which includes hypocalciuria, hypomagnesemia, and typically older clinical presentation with predominant muscular signs and symptoms. These findings establish the molecular basis of these disorders and indicate that the diverse abnormalities seen in affected patients derive from primary defects in these mediators of cotransport function. Moreover, these findings have implications for normal mechanisms of renal electrolyte homeostasis and for potential phenotypic effects in the more common heterozygous carriers of these mutations.

Youssef Ahmed - One of the best experts on this subject based on the ideXlab platform.

  • Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes
    Clinical Kidney Journal, 2020
    Co-Authors: Oluwatoyin Bamgbola, Youssef Ahmed
    Abstract:

    Abstract The common finding of Hypokalemic Alkalosis in several unrelated disorders may confound the early diagnosis of salt-losing tubulopathy (SLT). Antenatal Bartter syndrome (BS) must be considered in idiopathic early-onset polyhydramnios. Fetal megabladder in BS may allow its distinction from third-trimester polyhydramnios that occurs in congenital chloride diarrhea (CCD). Fetal megacolon occurs in CCD while fecal chloride >90 mEq/L in infants is diagnostic. Failure-to-thrive, polydipsia and polyuria in early childhood are the hallmarks of classic BS. Unlike BS, there is low urinary chloride in Hypokalemic Alkalosis of intractable emesis and cystic fibrosis. Rarely, renal salt wasting may result from cystinosis, Dent disease, disorders of paracellular claudin-10b and Kir4.1 potassium-channel deficiency. Acquired BS may result from calcimimetic up-regulation of a calcium-sensing receptor or autoantibody inactivation of sodium chloride co-transporters in Sjögren syndrome. A relatively common event of heterozygous gene mutations for Gitelman syndrome increases the likelihood of its random occurrence in certain diseases of adult onset. Finally, diuretic abuse is the most common differential diagnosis of SLT. Unlike the persistent elevation in BS, urinary chloride concentration losses waxes and wanes on day-to-day assessment in patients with diuretic misuse.

Nasser Nooh - One of the best experts on this subject based on the ideXlab platform.

  • Anesthetic management of a patient with Bartter's syndrome undergoing bilateral sagittal split osteotomy
    Saudi journal of anaesthesia, 2012
    Co-Authors: Nasser Nooh, Walid Ahmed Abdullah, Saad Sheta
    Abstract:

    Bartter's syndrome is an unusual (estimated incidence is 1.2 per million people) but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes. It is associated with hypertrophy and hyperplasia of the juxtaglomerular cells, normal blood pressure, and Hypokalemic Alkalosis withoutedema.We present a 22-year-old woman with Bartter's syndrome underwent bilateral sagittal split osteotomy to correct mandibular prognathic. The anesthetic management of Bartter's syndrome should be relevant to the pathophysiology of the syndrome. Therefore, it should be directed toward maintaining cardiovascular stability, control of associated fluid, electrolyte and acid-base derangements, and the prevention of renal damage.

  • Anesthetic management of a patient with Bartter′s syndrome undergoing bilateral sagittal split osteotomy
    Wolters Kluwer Medknow Publications, 2012
    Co-Authors: Nasser Nooh, Walid Abdullah, Saad Sheta
    Abstract:

    Bartter′s syndrome is an unusual (estimated incidence is 1.2 per million people) but important congenital form of secondary hyperaldosteronism; due to abnormalities in renal handling of electrolytes. It is associated with hypertrophy and hyperplasia of the juxtaglomerular cells, normal blood pressure, and Hypokalemic Alkalosis withoutedema.We present a 22-year-old woman with Bartter′s syndrome underwent bilateral sagittal split osteotomy to correct mandibular prognathic. The anesthetic management of Bartter′s syndrome should be relevant to the pathophysiology of the syndrome. Therefore, it should be directed toward maintaining cardiovascular stability, control of associated fluid, electrolyte and acid-base derangements, and the prevention of renal damage