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Thorleifsson, G., Holm, H., Edvardsson, V., Walters, G.B., Styrkarsdottir, U., Gudbjartsson, D.F., Sulem, P., Halldorsson, B.V., de Vegt, F., d’Ancona, F.C.H., den Heijer, M., Franzson, L., Christiansen, C., Alexandersen, P., Rafnar, T., Kristjansson, K., Sigurdsson, G., Kiemeney, L.A., Bodvarsson, M., Stefansson, K., et al. (2009) Sequence Variants in the CLDN14 Gene Associate with Kidney Stones and Bone Mineral Density. Nature Genetics, 41, 926-930.
https://doi.org/10.1038/ng.404

has been cited by the following article:

• TITLE: Kidney Stones in Transfusion-Dependent Thalassemia: Prevalence and Risk Factors

  AUTHORS: Farzana A. Sayani, Ashutosh Lal, Gregory E. Tasian, Mona Al Mukaddam, David W. Killilea, Ellen B. Fung

  KEYWORDS: Thalassemia, Nephrolithiasis, Kidney Stone, Etiology, Risk Factors

  JOURNAL NAME: Open Journal of Urology, Vol.12 No.4, April 22, 2022

  ABSTRACT: Purpose: As patients with transfusion-dependent thalassemia (TDT) are living longer, novel morbidities are being recognized. The purpose of this review is to summarize the current knowledge regarding the prevalence and risk factors of nephrolithiasis in patients with TDT. Methods: A non-systematic, narrative review of the current literature published up to August 2021 was conducted. Results: Nephrolithiasis has been reported in 18% - 59% of patients with TDT, which is at least twice the prevalence in the general US population. The risk factors for nephrolithiasis can be classified into behavioral (dietary and lifestyle), environmental, metabolic, disease-specific, and genetic factors. While clarifying the true prevalence of nephrolithiasis in different age groups and diagnostic categories of TDT requires further research, prevention, and management of nephrolithiasis is a growing clinical concern. Physicians should be aware of the potential increased risk of stone disease in splenectomized and diabetic patients as well as those treated with certain chelation regimens. Conclusions: The etiology of nephrolithiasis and potential TDT-specific risk factors that may put patients at greater risk are highlighted. There is insufficient evidence at this time to recommend universal screening for nephrolithiasis using ultrasound. Evidence-based recommendations on monitoring, prevention, and management of nephrolithiasis in TDT are provided.