Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism

in European Journal of Endocrinology
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  • 1 Department of Paediatrics, Sandwell and West Birmingham NHS Trust, Birmingham, UK
  • 2 Department of Endocrinology and Diabetes, Birmingham Women’s and Children’s NHS Foundation Trust Birmingham, Birmingham, UK
  • 3 Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
  • 4 Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK
  • 5 Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria

Correspondence should be addressed to N J Shaw; Email: nick.shaw@nhs.net
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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, neuro-development, associated conditions, mortality and medication dosing and administration for 12 affected children from eight families.

Results

All children were presented within the first 2 weeks of life with life-threatening, severe hyperkalaemia and hyponatraemia. All parents were consanguineous and of South Asian, Middle Eastern or African ethnic origin. Eight children had homozygous mutations in the SCNN1A and SCNN1G genes, encoding the epithelial sodium channel subunits alpha and gamma, respectively, including one novel mutation. Three children died (25%) and two (16%) had severe neurological impairment post-cardiac arrest secondary to hyperkalaemia. One affected female had a successful pregnancy at the age of 28 years.

Conclusion

Despite high mortality and morbidity in this condition, survival with normal physical and neurological outcome is possible, justifying intensive management to prevent electrolyte imbalance.

 

     European Society of Endocrinology

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