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An infant with pseudohypoaldosteronism accompanied by cholelithiasis
K Hanaki1, T Ohzeki, T Iitsuka
1Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan.
Insights
This study details a rare case of pseudohypoaldosteronism and cholelithiasis in an infant. The findings suggest a link between infant dehydration, electrolyte imbalances, and gallstone formation.
Area of Science:
- Pediatric Endocrinology
- Gastroenterology
- Nephrology
Background:
- Pseudohypoaldosteronism (PHA) is a rare condition characterized by aldosterone resistance.
- Cholelithiasis (gallstones) in infants is uncommon and often associated with underlying medical conditions.
- The co-occurrence of PHA and cholelithiasis has not been previously reported.
Observation:
- A case presentation of an infant with extremely high aldosterone levels (64.6 nmol/l) and electrolyte abnormalities (hyperkalemia 7.4 mEq/l, hyponatremia 124 mEq/l) is described.
- Fludrocortisone treatment showed no favorable effects on the infant's electrolyte derangement.
- Ultrasonography revealed a gallstone in the infant at 6 months of age, which was surgically removed.
Findings:
- The infant presented with a rare concurrence of pseudohypoaldosteronism and cholelithiasis.
- Despite high aldosterone levels, standard treatment with fludrocortisone was ineffective for correcting hyperkalemia and hyponatremia.
- Surgical extirpation of the gallstone was performed successfully.
Implications:
- This case highlights the potential association between infant dehydration, electrolyte disturbances, and the development of cholelithiasis.
- The findings support the hypothesis that electrolyte derangements may predispose infants to gallstone formation.
- Further research is warranted to explore the pathophysiology linking pseudohypoaldosteronism and cholelithiasis in pediatric populations.
Abstract:
A case of an infant with very rare concurrence of pseudohypoaldosteronism and cholelithiasis is described. Aldosterone concentration was extremely high (64.6 nmol/l; normal 0.03-4.4 nmol/l) and fludrocortisone did not have favorable effects on hyperkalemia (7.4 mEq/l) and hyponatremia (124 mEq/l). A gallstone was found using ultrasonography at age 6 months, and it was extirpated surgically. The combination has not been reported previously. The study supports the previous hypothesis that cholelithiasis is found more often in infants with dehydration or electrolyte derangement.