Clinical and genetic characterization of Chinese pediatric cystine stone patients

Shen, Lan; Cong, Xiaoming; Zhang, Xin; Wang, Ninghong; Zhou, Ping; Xu, Yan; Zhu, Qingyi; Gu, Xiaoqing

doi:10.1016/j.jpurol.2017.05.021

Cited by 13 publications

(23 citation statements)

References 14 publications

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“…According to the ACMG/AMP 2015 guidelines or the predictions by the software in silico, all 24 rare variants are pathogenic, likely pathogenic, disease-causing, or damaging (Tables 2 and 3). This result is similar to that obtained by another study (Shen et al, 2017). Shen et al (2017) examined 13 pediatric patients with CU and found that all patients harbored pathogenic SLC3A1 or SLC7A9 variants.…”

Section: Discussionsupporting

confidence: 90%

“…This result is similar to that obtained by another study (Shen et al, 2017). Shen et al (2017) examined 13 pediatric patients with CU and found that all patients harbored pathogenic SLC3A1 or SLC7A9 variants. These results raise the question of whether newborns with mutations in the SLAC3A1 or SLC7A9 genes should be afforded certain precautions, especially as next-generation sequencing has become widely available.…”

Section: Discussionsupporting

confidence: 90%

“…However, to the best of our knowledge, only four studies (including the present study) have been conducted in China concerning this topic. These studies involved 40 patients in total (Yuen et al, 2006;Shen et al, 2017;Ma et al, 2018). A total of 26 SLC3A1 and 21 SLC7A9 pathogenic variants have been reported in the Chinese population.…”

Section: Discussionmentioning

confidence: 99%

“…One dot (at the end of the variants) represents the variants reported by Yuen et al (2006). Two dots denote the variants reported by Shen et al (2017). Three dots mean the variants reported by Ma et al (2018).…”

Section: Ethics Statementmentioning

confidence: 99%

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Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

Yang

Zheng

et al. 2020

Front. Genet.

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Background: Cystinuria is a rare genetic disorder characterized by defective renal reabsorption of cystine, ornithine, arginine, and lysine. The increased urinary excretion of cystine results in the development of cystine urolithiasis (CU). The mutated SLC3A1 and SLC7A9 genes are the cause of CU, a global disorder. Its frequency and mutation spectrum vary between different populations. In Asia, the data for CU are limited.Method: Urinary stones were collected from patients of a single center over a five-year period and analyzed via Fourier transform infrared spectroscopy. Genomic DNA was isolated from 13 patients with CU and their parents and from 26 controls affected by calcium oxalate dihydrate stones. The coding regions and the exon-intron boundaries of SLC3A1 and SLC7A9 were subjected to PCR amplification and then sequenced via traditional Sanger sequencing. Genetic variants were functionally annotated using the InterVar, ClinVar, gnom AD, and HGMD databases.Results: From the 232 samples of urinary stones, we identified 13 patients with CU (10 males and 3 females). The onset age was from 7 months to 9 years. The CU stones varied from 0.26 cm 3 to 18.67 cm 3 . Sanger sequencing detected a total of 14 SLC3A1 (nine were novel) and 10 SLC7A9 (six were novel) rare variants from the 13 CU families. All variants, including 15 novel variants, were pathogenic, disease-causing, or damaging.Conclusion: All 13 pediatric CU families harbored SLC3A1 or/and SLC7A9 rare variants. A total of 15 novel pathogenic variants in SLC3A1 and SLC7A9 were identified. This study expanded the known mutational spectrum of CU in the Chinese population.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Ethics Statementmentioning

confidence: 99%

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Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

Yang

Zheng

et al. 2020

Front. Genet.

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“…Despite the recent developments in the understanding of the genetic causes of cystinuria, 13, 15, 16 there is a lack of effective interventions and currently no cure for the disease. Mainstay treatments focus on maintaining cystine homeostasis in the urine.…”

Section: Introductionmentioning

confidence: 99%

Intervention strategies for cystinuria: A systematic review

Bhatt

Deshpande

Jones‐Freeman

et al. 2020

Preprint

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Purpose: This systematic review evaluates the current intervention strategies for cystinuria and assesses their quality and efficacy in order to determine the need to identify new and improved strategies for treatment. Materials and Methods: A literature search for interventions in cystinuria was conducted on key electronic databases for studies published between 1996 and 2019. Quality was assessed using Methodological Index for Non-Randomized Studies (MINORS). Studies meeting the inclusion criteria were assessed for study design, patient characteristics and outcomes of interventions, including urinary cystine levels, stone-free rate and stone recurrence rate. A qualitative and critical analysis was performed. Results: Common treatment strategies for cystinuria include hydration and diuresis, alkali therapy and thiol-based therapeutics. Conservative therapies such as adequate hydration and urinary alkalization effectively increased urinary pH, decreased urinary cystine levels and the formation of cystine stones. Second line agents reported included thiols such as Tiopronin, D-penicillamine and captopril. Non-invasive surgical procedures were found to reduce operative trauma and preserved renal function. Combined treatment approaches with hydration and thiols after surgical procedures were associated with less stones and reduced stone recurrence rates. Patient compliance to interventions was often poor and contributed to recurrent cystine stones. Conclusions: Despite existing pharmacological intervention strategies, cystinuria patients frequently require surgical procedures. A more detailed understanding of the mechanisms of pathogenesis of cystinuria as well as an evaluation of patients on an individual basis may be beneficial in reducing the severity of cystinuria, by reducing stone recurrence and associated renal complications.

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Genetic and clinical analysis of Chinese pediatric patients with cystinuria

Zhan

Liu

et al. 2022

Urolithiasis

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Clinical and genetic characterization of Chinese pediatric cystine stone patients

Cited by 13 publications

References 14 publications

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

Intervention strategies for cystinuria: A systematic review

Genetic and clinical analysis of Chinese pediatric patients with cystinuria

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