Clinical features and molecular basis of pseudohypoaldosteronism type 1
نویسندگان
چکیده
منابع مشابه
Clinical 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 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 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 کاملA molecular update on pseudohypoaldosteronism type II.
The DCT (distal convoluted tubule) is the site of microregulation of water reabsorption and ion handling in the kidneys, which is mainly under the control of aldosterone. Aldosterone binds to and activates mineralocorticoid receptors, which ultimately lead to increased sodium reabsorption in the distal part of the nephron. Impairment of mineralocorticoid signal transduction results in resistanc...
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ژورنال
عنوان ژورنال: Clinical Pediatric Endocrinology
سال: 2017
ISSN: 0918-5739,1347-7358
DOI: 10.1297/cpe.26.109