Key result
Severe type 1 pseudohypoaldosteronism leads to fatal neonatal salt-wasting crisis before planned gastrostomy.
Why the study?
Management of severe multisystemic type 1 pseudohypoaldosteronism with effective salt supplementation is challenging due to inability to meet salt requirements orally.
Can gastrostomy be useful in the management of multisystemic severe form pseudohypoaldosteronism?
Case Report (n=1)
Can gastrostomy be useful in the management of multisystemic severe form pseudohypoaldosteronism?
In a severe case of multisystemic type 1 pseudohypoaldosteronism, inability to tolerate massive oral salt supplementation led to a fatal salt-wasting crisis, highlighting the potential need for early gastrostomy.
Neonatal PHA may present with vomiting and electrolyte imbalance; single case leaves open optimal management strategies.
A ten-day-old male infant was brought to the hospital with vomiting. On admission, he was hypotonic and had accompanying mild dehydration. The laboratory findings revealed hyponatremia, hyperkalemia, and mild metabolic acidosis. The hormone profile (plasma renin activity: 45 ng/ml/h, aldosterone >20 000 pg/ml, ACTH: 53 pg/ml, 17 OH progesterone: 6.7 ng/ml) revealed pseudohypoaldosteronism (PHA). Oral and IV NaCl, anti-potassium therapy (kayexalate), and low-potassium formula were started. His daily salt requirement was 12 grams. He was not able to take this total salt requirement orally. Respiratory symptoms and diarrhea episodes developed at the age of 3 months. The sodium concentration of sweat was 106 mEq/L. He was therefore diagnosed with multisystemic severe form of type 1 PHA. Severe salt wasting could not be treated. We planned to perform gastrostomy to administer his medications effectively but he died due to a salt-wasting crisis
No takes yet. Share an insight, caveat, or question.
Önder et al. (2015) conducted a case report in Multisystemic severe form pseudohypoaldosteronism (type 1 PHA) (n=1). Oral and IV NaCl, anti-potassium therapy, low-potassium formula, and planned gastrostomy was evaluated on Clinical course / survival. A ten-day-old male infant with multisystemic severe type 1 pseudohypoaldosteronism died due to a salt-wasting crisis before a planned gastrostomy could be performed to administer medications.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: