Living with Gitelman disease: An insight into patients' daily experiences

Maria Caiata-Zufferey, Claudia A. Zanini, Peter J. Schulz, Marie Louise Syrén, Mario G. Bianchetti, Alberto Bettinelli

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


Background. Gitelman disease presents with musculoskeletal complaints and fatigue. Surprisingly, there is no clear-cut correlation between biochemical abnormalities and symptoms. Methods. Starting from the hypothesis that the way patients comprehend their illness within their sociocultural frameworks reflects on their way of adapting to it, this study investigated how adult patients experience the disease in everyday life. We conducted a qualitative analysis based on interviews with 12 patients. Interviews were audio recorded, fully transcribed and analyzed using the constant comparative method described by Strauss and Corbin. Results. A typology of the experiences emerged from the data and was tested on each transcript with an explicit search for disconfirming cases. Patients fell into four main groups: (i) those considering Gitelman disease a disabling illness, (ii) those considering it a normalized illness, (iii) those considering it a different normality and (iv) those considering it an episodic disability. Each pattern of experience was characterized by particular (i) ways of interpreting symptoms (ii) ways of managing Gitelman disease in everyday life, (iii) general lifestyles and (iv) risks for the patient's psychosocial life. Conclusion. sThese findings suggest that health care providers should take advantage of considering patients' own perception of the disease in order to adjust the care and advice provided.

Original languageEnglish
Pages (from-to)3196-3201
Number of pages6
JournalNephrology Dialysis Transplantation
Issue number8
StatePublished - Aug 2012

Bibliographical note

Funding Information:
Acknowledgements. This research was supported by the Research Advisory Board for Research of the Ente Ospedaliero, Canton Ticino, Switzerland. We gratefully acknowledge the patients who accepted to share their experience with us.


  • Gitelman disease
  • hereditary disease
  • hypokalaemia
  • quality of life


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