Case Report: A Novel Compound Heterozygote Mutation of the SCNN1B Gene Identified in a Chinese Familial Pseudohypoaldosteronism Disease Type I With Persistent Hyperkalemia
BackgroundPseudohypoaldosteronism (PHA) diseases are difficult to diagnose because symptoms are often non-specific and an in-depth pathogenesis study is still lacking.Case PresentationWe present the case of a 19-day-old neonate who presented with unexplained recurrent hyperkalaemia, hypovolemia and...
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Frontiers Media S.A.,
2022-03-01T00:00:00Z.
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A1234.567 |
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