Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.

Abstract excerpt

INTRODUCTION: Autosomal recessive forms of pseudohypoaldosteronism are caused by genetic defects in the epithelial sodium channel. Little is known about the long-term outcome and medication needs during childhood and adolescence. OBJECTIVE: This study reports a single-centre experience of children affected with this ultra-rare condition over a 37-year period. METHODS: We report the clinical presentation, growth,...

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• Child, Preschool
• Consanguinity
• Epithelial Sodium Channels
• Family
• Genes, Recessive