Pseudohypoaldosteronism Type 1

Abstract

Hypoaldosteronism is an opposite condition with a decreased plasma aldosterone level accompanies hyperkalemia with/ without volume depletion. Pseudohypoaldosteronism (PHA) is another category of disorders characterized by mineralocorticoid resistance due to dysfunction of the intracellular aldosterone signaling pathway. Patients with PHA display elevated plasma aldosterone levels, hyperkalemia and metabolic acidosis. Some patients may have renal salt wasting also. PHA includes a heterogeneous, both phenotypically and genetically, group of disorders. This paper includes brief reviews of ion transport mechanisms in the distal nephron and the clinico-genetic characteristics of PHA, with special emphasis on PHA type 1, for better understanding of

Pseudohypoaldosteronism Type 1 with a Novel Mutation in the NR3C2 Gene: A Case Report

“…The inheritance is mainly autosomal dominant; however, in some sporadic cases, de novo mutations are noted. The main clinical manifestation is insufficient weight gain due to chronic dehydration 4) and biochemical abnormalities, including metabolic acidosis, hyponatremia, and hyperkalemia, with elevated plasma renin activity and aldosterone levels 3) . When compared with systemic PHA1, the symptoms in renal PHA1 are less severe and improve with age in most cases 6,13) .…”

“…It is characterized by renal salt wasting, dehydration, and failure to thrive. The cardinal biochemical features are hyponatremia, hyperkalemia, and metabolic acidosis, despite elevated plasma renin activity and aldosterone levels 3) . There are two different forms of PHA1 that are clinically and genetically distinct, systemic type PHA1 and renal type PHA1.…”

“…However, renal PHA1 is autosomal dominant inheritance and is characterized by aldosterone resistance restricted to the kidneys 2) . The earliest sign of both type of PHA1 are insufficient weight gain due to chronic dehydration and failure to thrive during infancy [3][4][5] . Although treatment is often straightforward with oral salt supplementation, the clinical manifestations of this condition can vary widely 6) .…”

Transient Pseudohypoaldosteronism in an Infant: A Case Report

“… 4 Since then, reports on type 1 PHA have been published and genetic analysis has recently identified two different forms of type 1 primary PHA: Renal PHA 1 or autosomal dominant-PHA and Systemic PHA 1 or autosomal recessive-PHA 1. 1 , 2 , 5 …”

“…Some causes to be considered are congenital adrenal hyperplasia (CAH) or hypoplasia, isolated aldosterone deficiency, certain medications or pseudohypoaldosteronism (PHA), a rare syndrome of mineralocorticoid resistance. 1 …”