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Defective aldosterone synthesis associated with hyperkalemic periodic paralysis
1Department of Pediatrics, University of Wisconsin Children's Hospital, Madison 53792.
Archives of Neurology
|March 1, 1993
Summary
Defective aldosterone synthesis (corticosterone methyl oxidase type II deficiency) was identified in a family with hyperkalemic periodic paralysis. Fludrocortisone therapy resolved paralytic episodes, suggesting a link to mineralocorticoid function.
Area of Science:
- Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Hyperkalemic periodic paralysis (HPP) is a rare genetic disorder characterized by episodic muscle weakness and hyperkalemia.
- Aldosterone biosynthesis is crucial for maintaining potassium homeostasis and blood pressure.
Observation:
- A kindred presented with HPP, including affected individuals and asymptomatic carriers.
- Analysis revealed impaired aldosterone synthesis due to corticosterone methyl oxidase type II (CMO-II) deficiency in affected family members.
- Mineralocorticoid precursor accumulation and low aldosterone levels confirmed CMO-II deficiency.
Findings:
- The infant showed severe CMO-II deficiency with failure to thrive, hyponatremia, and hyperkalemia.
- Adult relatives with HPP exhibited subnormal aldosterone levels and elevated 18-hydroxycorticosterone to aldosterone ratios, indicating latent CMO-II deficiency.
- Fludrocortisone acetate therapy successfully resolved paralytic episodes in a maternal aunt with HPP and CMO-II deficiency.
Implications:
- This study suggests a significant role for defective mineralocorticoid-mediated potassium regulation in the pathogenesis of HPP.
- Identifying CMO-II deficiency provides a potential therapeutic target for HPP patients with this specific defect.
- Understanding the genetic and metabolic underpinnings of HPP can lead to improved diagnostic and treatment strategies.