Elucidating the Underlying Molecular Pathogenesis ofNR3C2Mutants Causing Autosomal Dominant Pseudohypoaldosteronism Type 1
نویسندگان
چکیده
منابع مشابه
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene
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...
متن کاملAutosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.
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...
متن کاملMolecular and cellular pathogenesis of autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human life-threatening monogenic disorders. The disease is characterized by bilateral, progressive renal cystogenesis and cyst and kidney enlargement, often leading to end-stage renal disease, and may include extrarenal manifestations. ADPKD is caused by mutation in one of two genes, PKD1 and PKD2, which encode polyc...
متن کاملA novel mutation in the human mineralocorticoid receptor gene in a Japanese family with autosomal-dominant pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 1 (PHA1) is a rare disease that manifests in infancy with hyponatremia, hyperkalemia, and metabolic acidosis, regardless of renin-angiotensin system (RAS) hyperactivity. PHA1 has autosomal recessive systemic and autosomal dominant renal forms. The systemic form of PHA1 is characterized by severe resistance to aldosterone in multiple organs, including the kidney, col...
متن کاملAutosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy
Type 1 pseudohypoaldosteronism (PHA1) is a salt wasting syndrome caused by renal resistance to aldosterone. Primary renal PHA1 or autosomal dominant PHA1 is caused by mutations in mineralocorticoids receptor gene (NR3C2), while secondary PHA1 is frequently associated with urinary tract infection (UTI) and/or urinary tract malformations (UTM). We report a 14-day-old male infant presenting with s...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2006
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2006-1161