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Pseudohypo-aldosteronism and cholelithiasis: coincidence or pathogenetic correlation?
I Akkurt1, U Kuhnle, C Ringenberg
1Altonaer Kinderkrankenhaus, Hamburg, Germany.
Insights
Pseudohypoaldosteronism can cause gallstones in infants, even without clear salt-wasting symptoms. Consider screening infants with cholelithiasis for this condition.
Area of Science:
- Pediatric Gastroenterology
- Endocrinology
- Neonatal Medicine
Background:
- Cholelithiasis (gallstones) is increasingly diagnosed in children.
- Infantile gallstone etiology may differ from older age groups.
- Pseudohypoaldosteronism is a condition characterized by salt-wasting and dehydration.
Observation:
- Two infants with pseudohypoaldosteronism and cholelithiasis were reported.
- Salt-wasting and dehydration in pseudohypoaldosteronism are potential mechanisms for gallstone formation.
- These mechanisms may initiate gallstone development even during fetal life.
Findings:
- The diagnosis of pseudohypoaldosteronism can be challenging if salt-wasting is transient.
- Gallstones may remain asymptomatic and undetected.
- Pseudohypoaldosteronism should be suspected in infants presenting with cholelithiasis, irrespective of overt salt-wasting signs.
Implications:
- Consider pseudohypoaldosteronism in infants with gallstones.
- Routine ultrasonographic screening for gallstones is recommended for patients diagnosed with pseudohypoaldosteronism.
Abstract:
Cholelithiasis is being documented with increasing frequency in the paediatric age group. Causes of gallstone formation in infants and neonates seem to differ from those in older children and adolescents. Two infants with pseudohypo-aldosteronism and cholelithiasis are reported. Salt-wasting and dehydration in pseudohypo-aldosteronism are suggested to be the pathogenetic mechanisms leading to gallstone formation possibly beginning in fetal life. The diagnosis of pseudohypo-aldosteronism may be missed, when salt-wasting is transitional. Cholelithiasis may go undetected when asymptomatic. CONCLUSION Pseudohypo-aldosteronism should be considered in infants with cholelithiasis even without obvious salt-wasting signs. Routine ultrasonographic screening for gallstones should be performed in patients with pseudohypo-aldosteronism.