Pseudohypoaldosteronism: report of three cases

  • Vesna Stojanović University of Novi Sad
  • Slobodan Spasojević University of Novi Sad
  • Tanja Radovanović University of Novi Sad
  • Aleksandra Doronjski University of Novi Sad
Keywords: child, pseudohypoaldosteronism, renal type, transient

Abstract

Primary 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. (Full text available online at www.medpharm.tandfonline.com/oemd) Journal of Endocrinology, Metabolism and Diabetes of South Africa 2017; DOI: 10.1080/16089677.2017.1335532

Author Biographies

Vesna Stojanović, University of Novi Sad
School of Medicine Institute for Child and Youth Health Care of Vojvodina University of Novi Sad Novi Sad Serbia
Slobodan Spasojević, University of Novi Sad
School of Medicine Institute for Child and Youth Health Care of Vojvodina University of Novi Sad Novi Sad Serbia
Tanja Radovanović, University of Novi Sad
Institute for Child and Youth Health Care of Vojvodina University of Novi Sad Novi Sad Serbia
Aleksandra Doronjski, University of Novi Sad
School of Medicine Institute for Child and Youth Health Care of Vojvodina University of Novi Sad Novi Sad Serbia
Published
2017-11-27
Section
Case Study