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An unusual case of Pseudohypoaldosteronism coexisting with cystic fibrosis
  1. Navin Umapathy1,
  2. Balakrishnan Thirugnana Sambanda Moorthy2,
  3. Vaanmathi Azhagar Nambi Santhi1 and
  4. Lal D V Nair3
  1. 1 Paediatrics, Saveetha Medical College and Hospital, SIMATS Deemed University, Chennai, Tamil Nadu, India
  2. 2 Paediatrics, Saveetha Medical College and Hospital, SIMATS University, Chennai, Tamil Nadu, India
  3. 3 Department of Paediatrics, Saveetha Medical College and Hospital, SIMATS University, Chennai, Tamil Nadu, India
  1. Correspondence to Dr Navin Umapathy; navinu02{at}gmail.com

Abstract

Pseudohypoaldosteronism type 1 is a rare congenital autosomal recessive disorder, characterised by failure of receptor response to aldosterone. It is caused by mutation in SCNN1A gene with clinical features like failure to thrive in infancy, hyponatraemia, hyperkalaemia and metabolic acidosis. We present a male infant with seizures, hyperkalaemia and with failure to thrive, diagnosed at day 6 of life. The baby required repeated correction for hyperkalaemia; hence, after ruling out treatable causes for hyperkalaemia, exonerated sequencing was done which showed pathogenic mutation for cystic fibrosis and recessive mutation for pseudohypoaldosteronism. But the child was clinically in favour of pseudohypoaldosteronism. Hence, features of pseudohypoaldosteronism predominate cystic fibrosis; they both may coexist.

  • Paediatrics (drugs and medicines)
  • Genetics
  • Neonatal health

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Footnotes

  • Contributors NU was responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content. BTSM, VANS and LDVN gave final approval of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • 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.