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Abstract: FR-PO1098

Genetic Background of Infants with Urinary Tract Infection and Transient Pseudohypoaldosteronism

Session Information

Category: Pediatric Nephrology

  • 1700 Pediatric Nephrology

Authors

  • Tseng, Min-hua, Chang Gung Momorial Hospital, Taipei City, Taiwan
  • Lin, Shih-Hua P., Tri-Service General Hospital, Neihu, Taiwan
Background

Transient pseudohypoaldosteronism type 1 (PHA1) is a rare but severe complication of urinary tract infection (UTI) in infants. A detailed clinical and molecular analysis for this patient cohort is still lacking.

Methods

Transient pseudohypoaldosteronism type 1 (PHA1) is a rare but severe complication of urinary tract infection (UTI) in infants. A detailed clinical and molecular analysis for this patient cohort is still lacking.

Results

They included twelve infants (9 male) with an age of 1-8 months. All of them exhibited hypovolemic hyponatremia (125.3 ± 3.3 mmol/L), hyperkalemia (6.4 ± 0.2 mmol/L), metabolic acidosis (HCO3- 15.1 ± 1.5 mmol/L), low TTKG (3.3 ± 0.5), and relatively elevated FENa (2.4 ± 0.2 %), high plasma renin (476.2 ± 295.2 pg/ml) and aldosterone levels (869.8± 280.3 pg/ml). The time from onset of UTI to occurrence of PHA1 was 2.4 days. Vomiting and poor feeding were the most common symptoms. Seven had hyperkalemia-related arrhythmia and two of them developed life-threatening ventricular tachycardia. With prompt therapy for PHA1 and UTI, clinical manifestations and biochemical abnormalities were all resolved. Despite vesicoureteral reflux as the most common urinary tract anomalies, five patients had normal urinary tract and one of them harbored a novel mutation at phosphorylation site (heterozygous S544A) of NR3C2. During follow-up, none of them had recurrence of PHA1 and 4 of them developed renal scaring.

Conclusion

The development of PHAI from UTI is rapid and may exhibit severe features. Besides the well-known urinary tract anomalies, genetic mutation on NR3C2 may contribute to PHA1 in UTI infants without identifiable risk factors.