Diagnostic and management considerations in pseudohypoaldosteronism type 1b
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DOI: 10.1136/bcr-2021-246538
Abstract: Pseudohypoaldosteronism type 1B is a rare autosomal recessive disorder caused by dysfunction of amiloride-sensitive epithelial sodium channels (ENaCs). We present the case of a neonate with cardiogenic shock after cardiac arrest due to profound hyperkalaemia.… read more here.
Keywords: considerations pseudohypoaldosteronism; pseudohypoaldosteronism type; diagnostic management; pseudohypoaldosteronism ... See more keywords
Pseudohypoaldosteronism associated with hypertrophic cardiomyopathy, hypertension and thrombocytosis due to mutation in the ELAC2 gene: a case report
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DOI: 10.1515/jpem-2021-0626
Abstract: Abstract Objectives PHA1 is a rare heterogeneous disorder featured by changes in renal electrolyte transport due to mineralocorticoid resistance. The aim of the current study is to report the case of a child with 5-year… read more here.
Keywords: report; pseudohypoaldosteronism; case; mutation ... See more keywords
Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.
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DOI: 10.1530/eje-20-0152
Abstract: 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… read more here.
Keywords: pseudohypoaldosteronism; requirements children; treatment requirements; clinical characteristics ... See more keywords