Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jan;28(1):75-79.
doi: 10.1007/s10157-023-02405-2. Epub 2023 Oct 14.

Do pseudoxanthoma elasticum patients have higher prevalence of kidney stones on computed tomography compared to hospital controls?

Affiliations

Do pseudoxanthoma elasticum patients have higher prevalence of kidney stones on computed tomography compared to hospital controls?

Iris M Harmsen et al. Clin Exp Nephrol. 2024 Jan.

Abstract

Background: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by diminished inorganic plasma pyrophosphate (PPi), a strong calcification inhibitor. In addition to more typical calcification of skin, retina and arterial wall a diminished plasma PPi could lead to other ectopic calcification, such as formation of kidney stones.

Objective: To compare the prevalence of kidney stones between PXE patients and hospital controls on computed tomography (CT).

Method: Low-dose CT images of PXE patients and controls were assessed by one radiologist, who was blinded for the diagnosis PXE. The number of kidney stones, and the size of the largest stone was recorded. Odds ratios (ORs) for having kidney stone were calculated using multivariable adjusted logistic regression.

Results: Our study comprised 273 PXE patients and 125 controls. The mean age of PXE patients was 51.5 ± 15.9 years compared to 54.9 ± 14.2 in the control group (p = 0.04) and PXE patients more often were women (63 vs. 50%, p = 0.013). The prevalence of kidney stones on CT was similar: 6.9% in PXE patients, compared to 5.6% in controls (p = 0.6). In the multivariate analysis adjusting for age and sex, there was no significantly higher odds for PXE patients on having stones, compared to controls: OR 1.48 (95% CI 0.62-3.96).

Conclusion: There is no significant difference in the prevalence of incidental kidney stones on CT in PXE patients versus controls.

Keywords: ABCC6; CT; Computed tomography; Kidney stones; PXE; Pseudoxanthoma elasticum; Urolithiasis.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Similar articles

Cited by

References

    1. Germain DP. Pseudoxanthoma elasticum. Orphanet J Rare Dis. 2017;12(1):85. doi: 10.1186/s13023-017-0639-8. - DOI - PMC - PubMed
    1. Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 2000;25(2):223–227. doi: 10.1038/76102. - DOI - PubMed
    1. Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000;25(2):228–231. doi: 10.1038/76109. - DOI - PubMed
    1. Borst P, Váradi A, van de Wetering K. PXE, a mysterious inborn error clarified. Trends Biochem Sci. 2019;44(2):125–140. doi: 10.1016/j.tibs.2018.10.005. - DOI - PMC - PubMed
    1. Li Q, Kingman J, van de Wetering K, Tannouri S, Sundberg JP, Uitto J. Abcc6 knockout rat model highlights the role of liver in PPi homeostasis in pseudoxanthoma elasticum. J Invest Dermatol. 2017;137(5):1025–1032. doi: 10.1016/j.jid.2016.11.042. - DOI - PMC - PubMed

LinkOut - more resources