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
. 2023 Jun;38(6):1801-1810.
doi: 10.1007/s00467-022-05784-y. Epub 2022 Nov 21.

Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study

Majid Alfadhel  1   2 , Muhammad Umair  3 , Malak A Alghamdi  4 , Khalid Al Fakeeh  5 , Abdullah T Al Qahtani  5 , Afrah Farahat  6 , Mohamed A Shalaby  7 , Jameela A Kari  7 , Rupesh Raina  8 , Pierre Cochat  9 , Khalid A Alhasan  10   11
Affiliations

Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study

Majid Alfadhel et al. Pediatr Nephrol. 2023 Jun.

Abstract

Background: Primary hyperoxalurias (PHs) constitute rare disorders resulting in abnormal glyoxalate metabolism. PH-associated phenotypes range from progressive nephrocalcinosis and/or recurrent urolithiasis to early kidney failure.

Methods: A retrospective study was conducted for patients with confirmed PH diagnoses from three tertiary centers in Saudi Arabia. Detailed clinical molecular diagnosis was performed for 25 affected individuals. Whole exome sequencing (WES)-based molecular diagnosis was performed for all affected individuals.

Results: The male:female ratio was 52% male (n = 13) and 48% female (n = 12), and consanguinity was present in 88%. Nephrolithiasis and/or nephrocalcinosis were present in all patients. Kidney stones were present in 72%, nephrocalcinosis in 60%, hematuria in 32%, proteinuria in 16%, abdominal pain in 36%, developmental delay in 8%, and chronic kidney disease stage 5 (CKD stage 5) was observed in 28% of the patients. The most common PH disorder was type I caused by variants in the AGXT gene, accounting for 56%. The GRHPR gene variants were identified in 4 patients, 16% of the total cases. Seven patients did not reveal any associated variants. Missense variants were the most commonly observed variants (48%), followed by frame-shift duplication variants (28%).

Conclusions: Characterization of the genetic and clinical aspects of PH in this unique population provides direction for improved patient management and further research. A higher resolution version of the Graphical abstract is available as Supplementary information.

Keywords: AGXT; GRHPR; Nephrocalcinosis; Primary hyperoxaluria; Saudi Arabia.

PubMed Disclaimer

Conflict of interest statement

None.

Figures

None
A higher resolution version of the Graphical abstract is available as Supplementary information
Fig. 1
Fig. 1
Variants identified in the present study
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol. 2012;8:467–475. doi: 10.1038/nrneph.2012.113. - DOI - PubMed
    1. Martin-Higueras C, Torres A, Salido E. Molecular therapy of primary hyperoxaluria. J Inherit Metab Dis. 2017;40:481–489. doi: 10.1007/s10545-017-0045-3. - DOI - PubMed
    1. Dindo M, Conter C, Oppici E, Ceccarelli V, Marinucci L, Cellini B. Molecular basis of primary hyperoxaluria: clues to innovative treatments. Urolithiasis. 2019;47:67–78. doi: 10.1007/s00240-018-1089-z. - DOI - PubMed
    1. Salido E, Pey AL, Rodriguez R, Lorenzo V. Primary hyperoxalurias: disorders of glyoxylate detoxification. Biochim Biophys Acta. 2012;1822:1453–1464. doi: 10.1016/j.bbadis.2012.03.004. - DOI - PubMed
    1. Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CG, Giachino D, Owen T, Robbiano A, Salido E, Waterham H, Rumsby G. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat. 2009;30:910–917. doi: 10.1002/humu.21021. - DOI - PubMed

Publication types