Monogenic features of urolithiasis: A comprehensive review

IF 2.4 3区医学 Q2 UROLOGY & NEPHROLOGY Asian Journal of Urology Pub Date : 2024-04-01 DOI:10.1016/j.ajur.2023.03.004

Kyo Chul Koo , Abdulghafour Halawani , Victor K.F. Wong , Dirk Lange , Ben H. Chew

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Abstract

Objective

Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable component.

Methods

This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis formation.

Results

Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis formers.

Conclusion

The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans.

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尿石症的单基因特征：综述

目的尿石症的形成一直归咎于环境和饮食因素。然而，越来越多的证据表明，遗传背景也可能导致尿路结石的形成。利用高通量测序技术鉴定单基因病因的进展表明，尿路结石具有很强的遗传性。方法本综述介绍了与尿路结石遗传易感性有关的单基因因素。结果鉴于 80% 以上的尿石症病例与钙积累有关，研究主要集中于高钙尿尿石症的单基因因素，从而确定了参与钙肾小管重吸收调节的受体、通道和转运体。然而，现有的候选基因和关联方法在评估遗传因素与环境、饮食和激素因素的影响方面分辨率较低，而且大多数尿路结石形成者的基因型仍未确定。

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来源期刊

Asian Journal of Urology UROLOGY & NEPHROLOGY-

CiteScore

4.00

自引率

3.80%

发文量

100

审稿时长

4 weeks

期刊介绍： Asian Journal of Urology (AJUR), launched in October 2014, is an international peer-reviewed Open Access journal jointly founded by Shanghai Association for Science and Technology (SAST) and Second Military Medical University (SMMU). AJUR aims to build a communication platform for international researchers to effectively share scholarly achievements. It focuses on all specialties of urology both scientifically and clinically, with article types widely covering editorials, opinions, perspectives, reviews and mini-reviews, original articles, cases reports, rapid communications, and letters, etc. Fields of particular interest to the journal including, but not limited to: • Surgical oncology • Endourology • Calculi • Female urology • Erectile dysfunction • Infertility • Pediatric urology • Renal transplantation • Reconstructive surgery • Radiology • Pathology • Neurourology.