997 Pseudohypoaldosteronism Type 1, Renal Form- a Case Report
نویسندگان
چکیده
منابع مشابه
PSEUDOHYPOALDOSTERONISM: A CASE REPORT
A four day old female infant was admitted because of poor feeding, vomiting and jaundice. Laboratory examination showed hyperkalemia, mild hyponatremia and renal tubular acidosis type 4. Serum aldosterone and plasma renin activity were elevated but serum cortisol, 17 -hydroxyprogesterone, ACTH, 24 hour urinary 17- ketoste roid, pregnanetriol, renal function and sonogram were normal and henc...
متن کاملA novel NR3C2 mutation in a Japanese patient with the renal form of pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 1 (PHA1) is a rare disease characterized by congenital resistance to the action of aldosterone on epithelial tissue; PHA1 results in excessive salt wasting despite very high plasma aldosterone and renin levels (1–3). There are 3 types of PHA1. The systemic form of PHA1 is inherited in an autosomal recessive manner and manifests as severe life-long salt wasting cause...
متن کاملTwo Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2
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 ...
متن کاملpseudohypoaldosteronism: a case report
a four day old female infant was admitted because of poor feeding, vomiting and jaundice. laboratory examination showed hyperkalemia, mild hyponatremia and renal tubular acidosis type 4. serum aldosterone and plasma renin activity were elevated but serum cortisol, 17 -hydroxyprogesterone, acth, 24 hour urinary 17- ketoste roid, pregnanetriol, renal function and sonogram were normal and hence ps...
متن کاملa case of pseudohypoaldosteronism type 1 with positive familial history
normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 background : pseudohypoaldosteronism type 1 (pha1) is a rare congenital disease of mineralocorticoid resistance which characterized by neonatal renal salt wasting, vomiting, dehydration and failure to thrive. the clinical presentation of the disease represented mostly during neonatal period with a wide spectrum of symptoms...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2010
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-201011001-00997