Case Report: Does a Young Woman with Gitelman Syndrome Have Gout?

Figure 2: CTs of the Abdomen and Pelvis, Focus on the Sacroiliac Joints, 2020

Bilateral erosions of the sacroiliac joints with subchondral resorption/erosions that may be due to possible hyperparathyroidism or non-specific sacroiliitis are evident. The diffuse sclerotic appearance of imaged osseous structures is suggestive of renal osteodystrophy or sequela of prior metabolic derangement.

At least one other case report describes an association between gout and Gitelman syndrome.² Historically, inherited defects in the salvage pathway (Lesch-Nyhan syndrome), phosphoribosyl pyrophosphate synthetase (PRP) overactivity, glucose-6-phosphate dehydrogenase deficiency or Down syndrome are thought to be the primary genetic causes for hyperuricemia due to urate overproduction from excess purine.^1,2,9

In our patient, Gitelman syndrome was associated with premature, severe tophaceous gout through a pathway that is likely related to urate underexcretion and not overproduction due to a rare, genetic defect.^1-6 This is particularly important because of the strong association of Gitelman syndrome with calcium pyrophosphate deposition disease, a common gout mimic.⁷

Conclusion

This case highlights the relationship between Gitelman syndrome and hyperuricemia, and it contributes to the limited number of case reports on Gitelman syndrome with gout and hyperparathyroidism.^2,12 This case should reinforce and expand the paradigm of unusual genetic and metabolic causes of hyperuricemia, especially in younger patients who don’t typically meet the epidemiologic consideration for gout, particularly in young, premenopausal women.

Although rare, gout should be considered in patients with Gitelman syndrome.²

Rebecca Lindsey Weiner, DO, is a first-year rheumatology fellow at the Medical College of Wisconsin in Milwaukee.

Ann K. Rosenthal, MD, FACP, is the Will and Cava Ross Professor of Medicine, Division of Rheumatology, Medical College of Wisconsin, and is chief of the Rheumatology Division and associate chief of staff for research and development at the Zablocki VA Medical Center.

References

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