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Case report
Diagnostic and management considerations in pseudohypoaldosteronism type 1b
  1. Jelte Kelchtermans1,2,
  2. Sara E Pinney2,3,
  3. Jacqueline M M Leonard4 and
  4. Sharon Mcgrath-Morrow1
  1. 1Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
  2. 2Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
  3. 3Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
  4. 4Roberts Individualized Medical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
  1. Correspondence to Dr Jelte Kelchtermans; kelchtermj{at}chop.edu

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. Genetic testing revealed a novel homozygous variant in SCNNIA. We review diagnostic considerations including the molecular mechanisms of disease, discuss treatment approaches and highlight the possible significance of the diversity of pulmonary ENaCs.

  • genetics
  • congenital disorders
  • fluid electrolyte and acid-base disturbances
  • respiratory medicine

https://doi.org/10.1136/bcr-2021-246538

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    Footnotes

    • Contributors All authors contributed to the conception of the work. JK drafted the initial version of the manuscript, and SEP, JMML and SMM made critical revisions and provided significant edits to all sections of the manuscript.

    • Funding This study was funded by National Center for Advancing Translational Sciences of the National Institutes of Health (TL1TR001880).

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.