Pseudohypoaldosteronism type 1: clinical features and management in infancy
نویسندگان
چکیده
منابع مشابه
Pseudohypoaldosteronism 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 کاملClinical and molecular features of type 1 pseudohypoaldosteronism.
Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance causing insufficient potassium and hydrogen secretion. PHA type 1 (PHA1) causes neonatal salt loss, failure to thrive, dehydration and circulatory shock. Two different forms of PHA1 can be distinguished on the clinical and genetic level, showing either a systemic or a renal form of mineralocorticoid r...
متن کاملClinical features and molecular basis of pseudohypoaldosteronism type 1
Pseudohypoaldosteronism (PHA) type 1 is a disease showing mineralocorticoid resistance in the kidney and/or other mineralocorticoid target tissues. Patients with PHA1 present very high plasma aldosterone and renin levels, but they develop excessive salt wasting. There are three types of PHA1. The systemic form of PHA1 is inherited in an autosomal recessive manner and causes severe life-long sal...
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...
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...
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ژورنال
عنوان ژورنال: Endocrinology, Diabetes & Metabolism Case Reports
سال: 2013
ISSN: 2052-0573,2052-0573
DOI: 10.1530/edm-13-0010