Critical Points in the Management of Pseudohypoaldosteronism Type 1 - Case Report
نویسندگان
چکیده
منابع مشابه
Critical Points in the Management of Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the di...
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 henc...
متن کاملChallenges in the diagnosis and management of Pseudohypoaldosteronism Type 1
Autosomal recessive Pseudohypoaldosteronism Type I (PHA-I, MIM#264350), is a rare disease with a severe clinical phenotype [1,2] and generally no improvement with age [3]. It results from mutations in the amiloridesensitive epithelial sodium channel causing mineralocorticoid-resistant (ENaC), systemic salt wasting, and is lethal without ongoing supra-physiological sodium supplementation and man...
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ژورنال
عنوان ژورنال: journal of Clinical Research in Pediatric Endocrinology
سال: 2011
ISSN: 1308-5727
DOI: 10.4274/jcrpe.v3i2.20