Investigating adrenal hormone secretion, altered immunity, and quality of life in patients with inherited salt losing tubulopathies (SLTs)

Abstract

Abstract

Background: Patients with salt losing tubulopathies (SLTs) suffer from chronic salt wasting and electrolyte imbalance consequently. Sodium imbalance is associated with altered adrenal hormone secretion, altered immunity, as well as impaired quality of life. Patients with Gitelman syndrome (GS) are predicted to have elevated aldosterone, lowered cortisol and androgen secretion, altered immunity, and impaired quality of life. Aims: To investigate the secretion of adrenal hormones, altered immunity, and quality of life in patients with GS.

Methods: Participants included 15 patients with GS and 5 patients with Gordon syndrome from the Royal Free Hospital. Blood samples, 24-hour urine collections, and spot urine samples were taken to assess electrolytes, adrenal hormones, and immunity parameters. Additionally, immunity scores were calculated based on medical history, and SF-36 questionnaire forms were handed to participants to assess quality of life.

Results: Participants with GS had elevated aldosterone levels, but did not display any alterations in cortisol secretions, or androgen secretions. There was a notable increase in 5 alpha reductase (5α-R) activity in participants with GS as they had elevated 5α reduced cortisol and androgen metabolites. Regarding immunity, they displayed lower IgA levels and statically significant higher IgM levels than participants with Gordon syndrome (P=0.0396). As for quality of life, the SF-36 questionnaire revealed that 60% of participants faced limitations with vigorous activity, 40% faced limitations with moderate activities, and 60% faced limitations with climbing stairs.

Conclusion: The main findings of this study revealed that SLTs are associated with hyperaldosteronism, increased 5α-R activity, altered immunity evidenced by lowered IgA levels and elevated IgM levels, and impaired quality of life related to physical limitations.

Key words: SLTs, sodium, adrenal hormones, cortisol, androgens, aldosterone, immunity, quality of life.