نتایج جستجو برای: pseudohypoaldosteronism type 1
تعداد نتایج: 3647227 فیلتر نتایج به سال:
Molecular Pathogenesis of Congenital Hypertensive Disease - Pseudohypoaldosteronism Type II and WNK4
OBJECTIVE The renal form of pseudohypoaldosteronism type 1 (PHA1) is a rare disease caused by mutations in the human mineralocorticoid receptor gene (NR3C2). DESIGN Aim of the study was to analyze the NR3C2 gene in three Italian patients with clinical signs of renal PHA1 and to evaluate the distribution of the -2G > C, c.538A > G, and c.722C > T single nucleotide polymorphism (SNP) pattern in...
Pseudohypoaldosteronism type 1 (PHA1) is a disease characterized by neonatal salt loss due to aldosterone resistance. Two types of PHA1 are known: an autosomal recessive systemic form and an autosomal dominant renal form. The cause of the renal form of PHA1 is heterozygous mutations in NR3C2, which encodes the mineralocorticoid receptor (MR). We encountered two female Japanese infants with the ...
BACKGROUND Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) is a rare inherited condition that is characterized by renal resistance to aldosterone as well as salt wasting, hyperkalemia, and metabolic acidosis. Renal PHA1 is caused by mutations of the human mineralcorticoid receptor gene (MR), but it is a matter of debate whether MR mutations cause mineralcorticoid resistance via haploin...
Autosomal dominant pseudohypoaldosteronism type 1 (adPHA1) is a rare condition that is characterized by renal resistance to aldosterone, with salt wasting, hyperkalemia, and metabolic acidosis. It is thought of as a mild disorder; affected children's symptoms respond promptly to salt therapy, and treatment is not required after childhood. Mutations in the mineralocorticoid receptor gene (MR) ca...
reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page Pseudohypoaldosteronism type (PHA) 1 is a rare disease with an incidence of 1:47 000 to 1:80 000. 1 The presentation may be confused with other neonatal endocrino-logical problems like congenital adrenal hyperplasia, hypoaldosteronism, and B...
UNLABELLED Neonatal hyperkalemia and hyponatremia are medical conditions that require an emergent diagnosis and treatment to avoid morbidity and mortality. Here, we describe the case of a 10-day-old female baby presenting with life-threatening hyperkalemia, hyponatremia, and metabolic acidosis diagnosed as autosomal dominant pseudohypoaldosteronism type 1 (PHA1). This report aims to recognize t...
Questions Pseudohypoaldosteronism Type II: History, Arguments, Answers, and Still Some Print ISSN: 0194-911X. Online ISSN: 1524-4563 Copyright © 2014 American Heart Association, Inc. All rights reserved. is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231 Hypertension doi: 10.1161/HYPERTENSIONAHA.113.02187 2014;63:648-654; originally published online January...
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