ISSN 2149-2247 | E-ISSN 2149-2549
Original Article
Clinical Course and Follow-Up o Type 1 Pseudohypoaldosteronism
1 Division of Neonatology, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey  
2 Division of Pediatric Endocrinology, Erciyes University Faculty of Medicine, Kayseri, Turkey  
3 Division of Pediatric Metabolism, Erciyes University Faculty of Medicine, Kayseri, Turkey  
4 Division of Pediatric Nephrology, Erciyes University Faculty of Medicine, Kayseri, Turkey  
5 Division of Neonatology, Department of Pediatrics, Erciyes University Faculty of Medicine; Division of Pediatric Endocrinology, Erciyes University Faculty of Medicine, Kayseri, Turkey  
Erciyes Med J ; : -
DOI: 10.5152/etd.2018.0033
Key Words: Pseudohypoaldosteronism type 1, salt-depletion crisis, aldosterone, treatment
Abstract

 

Objective: This study aimed to evaluate the management of primary pseudohypoaldosteronism type 1 (PHA1), which is a rare disease.


Materials and Methods
: We retrospectively reviewed the hospital records of patients who were followed up with a diagnosis of primary PHA1.


Results
: Of the eight patients diagnosed with primary PHA1, two had renal PHA1 and five had systemic PHA1. Five patients were initially administered steroids until a definite diagnosis was made. One patient was initially misdiagnosed with congenital adrenal hyperplasia due to “the high-dose hook effect”.  In patients with systemic PHA1, the highest salt requirement was 32–53 mEq/kg/day, which gradually decreased in all patients. Salt supplementation could not be stopped in patients with systemic PHA1 except one patient. Four of the eight patients died.


Conclusion
: After excluding the causes that may lead to secondary PHA in the initial evaluation of patients referred with a salt-depletion crisis, a differential diagnosis of congenital adrenal hyperplasia and PHA1 should be made. The hook effect and interference probabilities should be considered for evaluating hormone levels.


Cite this article as
: Korkut S, Akın L, Özdemir A, Korkmaz L, Kendirci M, Düşünsel R, et al. Clinical Course and Follow-Up of Type 1 Pseudohypoaldosteronism. Erciyes Med J DOI: 10.5152/etd.2018.0033

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