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Two-year-old girl with metabolic acidosis and hyperkalaemia
  1. Giuseppa Patti1,2,
  2. Viviana Palazzo3,
  3. Angelica Pagliazzi4,
  4. Laura Confalonieri1,2,
  5. Natascia Di Iorgi1,2
  1. 1 Department of Pediatrics, Pediatrics, IRCCS Istituto Giannina Gaslini, University of Genova, Genova, Italy
  2. 2 Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy
  3. 3 Medical Genetics Unit, Meyer Children's Hospital, Florence, Italy, Florence, Italy
  4. 4 Clinical and Experimental Biomedical Sciences, University of Florence Department of Experimental and Clinical Biomedical Sciences Mario Serio, Firenze, Toscana, Italy
  1. Correspondence to Dr Giuseppa Patti, Pediatrics, Istituto Giannina Gaslini Istituto Pediatrico di Ricovero e Cura a Carattere Scientifico, Genova 16147, Italy; giusypattis{at}


Hyperkalaemia hypertension and metabolic acidosis in children can pose a challenge of both diagnosis and management. This case chronicles the diagnostic journey of a 2-year-old girl with hyperkalaemia associated with hypertension and metabolic acidosis accidentally detected during a viruses.

  • paediatric practice
  • endocrinology

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  • Contributors GP wrote and revised the manuscript. VP and AP performed genetic analysis. LC and NDI participated in drafting and revision 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.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

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