Pseudohypoaldosteronism type 1 in an infant
نویسندگان
چکیده
منابع مشابه
Pseudohypoaldosteronism type 1 secondary to vesicoureteral reflux: An endocrinologic emergency.
Non-pancreatic gastrointestinal neuroendocrine tumors (NETs) include a wide group of diseases mainly located in the ileum and appendix and usually with no clinical signs of hormone hypersecretion. At least 140 cases have been reported in the ampulla of Vater, whose symptoms usually derive from ampullar obstruction and include abdominal pain, pancreatitis, jaundice, or gastrointestinal bleeding....
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...
متن کاملCritical 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 type 1: clinical features and management in infancy
UNLABELLED Type 1 pseudohypoaldosteronism (PHA) is a rare heterogeneous group of disorders characterised by resistance to aldosterone action. There is resultant salt wasting in the neonatal period, with hyperkalaemia and metabolic acidosis. Only after results confirm isolated resistance to aldosterone can the diagnosis of type 1 PHA be confidently made. Type 1 PHA can be further classified into...
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: Ceylon Medical Journal
سال: 2011
ISSN: 2386-1274,0009-0875
DOI: 10.4038/cmj.v56i2.3114