Pseudohypoaldosteronism: report of three cases
AbstractPrimary pseudohypoaldosteronism type 1 (PHA-1) is a heterogeneous syndrome characterised by salt-wasting due to unresponsiveness of target organ to mineralocorticoids. It is inherited in an autosomal recessive or autosomal dominant pattern, and often is a result of the mutation de novo. It can be sub-classified into two distinguishable clinical entities: renal PHA type 1 (renal PHA-1) and multiple PHA type 1 (multiple PHA-1). Secondary transient) PHA type 1 is usually associated with urinary tract infections complicating structural urinary tract anomalies. PHA type 2 (PHA-2, Gordon syndrome) is an entity inherited in an autosomal dominant pattern.
Three cases of PHA, two with renal PHA-1 and one with secondary PHA type 1, are reported.
In all patients with salt-wasting and dehydration differentiation between congenital adrenal hyperplasia and PHA should be performed. Also, in the case with hyperkalaemia, hyponatremia and metabolic acidosis, urinary tract infection and obstructive uropathy should be excluded.
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Journal of Endocrinology, Metabolism and Diabetes of South Africa 2017; DOI: 10.1080/16089677.2017.1335532
How to Cite
STOJANOVIĆ, Vesna et al. Pseudohypoaldosteronism: report of three cases. Journal of Endocrinology, Metabolism and Diabetes of South Africa, [S.l.], v. 22, n. 2, p. 18-21, sep. 2017. ISSN 2220-1009. Available at: <http://jemdsa.co.za/index.php/JEMDSA/article/view/582>. Date accessed: 23 oct. 2017.
child; pseudohypoaldosteronism; renal type; transient
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