ISSN 2149-2247 | E-ISSN 2149-2549
1 Division of Neonatology, Erciyes University Medical Faculty, Kayseri, Turkey  
2 Division of Pediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey  
3 Division of Pediatric Metabolism, Erciyes University Medical Faculty, Kayseri, Turkey  
4 Division of Pediatric Nephrology, Erciyes University Medical Faculty, Kayseri, Turkey  
5 Division of Neonatology, Erciyes University Medical Faculty, Kayseri, Turkey.; Division of Pediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.,  
Erciyes Med J ; : -

Abstract

Objective: The aim of this study is to evaluate the management of primary type 1 pseudohypoaldosteronism (PHA1), including long-term follow-up, in the context of follow-up of our patients with PHA1, which is a rare disease.

 

Methods: The hospital records of patients followed up with a diagnosis of primary PHA1 were examined retrospectively.

 

Results: Of the eight patients diagnosed with primary PHA1, two were evaluated as renal type PHA1 and five as systemic type PHA1. Five patients were initially given steroid treatment until a definite diagnosis was made. The highest salt requirement for the systemic type in our study was 32-53 mEq/kg/day and this requirement decreased gradually in all patients, but it was not possible to eliminate salt supplementation in any of the patients except one. One patient was initially misdiagnosed with congenital adrenal hyperplasia due to interference. Four out of eight patients died.

 

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

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