The genetic components of idiopathic nephrolithiasis

Attanasio, Massimo

doi:10.1007/s00467-010-1562-6

Cited by 17 publications

(8 citation statements)

References 75 publications

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“…While a limited number of monogenic forms of nephrolithiasis have been identified, genetic susceptibility to nephrolithiasis is more likely inherited as a polygenic trait. [16]…”

Section: Historymentioning

confidence: 99%

Approach to the Adult Kidney Stone Former

Maalouf

2011

Clinic Rev Bone Miner Metab

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Nephrolithiasis is a prevalent and costly condition with high recurrence rate. A medical evaluation to identify abnormalities responsible for nephrolithiasis and guide subsequent therapy has been advocated to reduce the risk of stone recurrence. The evaluation of kidney stone formers generally comprises an extensive medical history to identify metabolic, environmental, dietary and/or genetic factors contributing to stone formation. Imaging studies are utilized to evaluate and follow stone burden. Laboratory studies including stone composition analysis and serum and urinary chemistries are commonly obtained to further assess for any underlying systemic disorders, to detect environmental and metabolic processes contributing to stone disease, and to guide initial and follow-up dietary and pharmacological therapy. The nature and extent of such an evaluation is discussed in this review article.

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“…While a limited number of monogenic forms of nephrolithiasis have been identified, genetic susceptibility to nephrolithiasis is more likely inherited as a polygenic trait. [16]…”

Section: Historymentioning

confidence: 99%

Approach to the Adult Kidney Stone Former

Maalouf

2011

Clinic Rev Bone Miner Metab

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“…Nephrolithiasis is a multifactorial disease with genetic and environmental factors determining the likelihood of stone formation [5]. We and other investigators have identified multiple environmental risk factors associated with increased risk including lower dietary Ca 2+ intake [6]–[8], lower fluid intake [6]–[9], and higher body mass index [8], [10].…”

Section: Introductionmentioning

confidence: 99%

Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion

et al. 2013

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Our study investigated the association of rare allelic variants with extremes of 24-hour urinary calcium excretion because higher urinary calcium excretion is a dominant risk factor for calcium-based kidney stone formation. We resequenced 40 candidate genes potentially related to urinary calcium excretion in individuals from the Nurses' Health Studies I & II and the Health Professionals Follow-up Study. A total of 960 participants were selected based on availability of 24-hour urine collection data and level of urinary calcium excretion (low vs. high). We utilized DNA sample pooling, droplet-based target gene enrichment, multiplexing, and high-throughput sequencing. Approximately 64% of samples (n = 615) showed both successful target enrichment and sequencing data with >20-fold deep coverage. A total of 259 novel allelic variants were identified. None of the rare gene variants (allele frequencies <2%) were found with increased frequency in the low vs. high urinary calcium groups; most of these variants were only observed in single individuals. Unadjusted analysis of variants with allele frequencies ≥2% suggested an association of the Claudin14 SNP rs113831133 with lower urinary calcium excretion (6/520 versus 29/710 haplotypes, P value = 0.003). Our data, together with previous human and animal studies, suggest a possible role for Claudin14 in urinary calcium excretion. Genetic validation studies in larger sample sets will be necessary to confirm our findings for rs113831133. In the tested set of candidate genes, rare allelic variants do not appear to contribute significantly to differences in urinary calcium excretion between individuals.

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“…Ключевые слова: мочекаменная болезнь, уратный уролитиаз, профилактика, метафилактика, цитратные смеси, Блемарен М очека менна я болезнь (МКБ) -широко распростра ненное заболевание, которым страдают до 13% населения во всем мире [1]. Заболеваемость МКБ неуклонно растет, приблизительно удваиваясь каждые 20 лет [2].…”

Section: современные подходы к патогенезу лечению и метафилактике урunclassified

Modern Approaches to Pathogenesis, Treatment and Metaphylaxis of Urate Urolithiasis

Аль-Шукри¹,

Slesarevskaya²,

Kuzmin³

2019

EPh

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The article is devoted to the pathogenesis, treatment and metaphylaxis of urate lithiasis. Issues of general preventive measures for urolithiasis and as well as specific metaphylaxis in respect of urate lithiasis are discussed. The mechanism of litholytic activity of citrate mixtures is described in detail. The results of modern domestic studies of the effectiveness and safety of litholytic therapy of urate nephrolithiasis both in monotherapy and in combination with remote lithotripsy are provided.

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The genetic components of idiopathic nephrolithiasis

Cited by 17 publications

References 75 publications

Approach to the Adult Kidney Stone Former

Approach to the Adult Kidney Stone Former

Frequency of Rare Allelic Variation in Candidate Genes among Individuals with Low and High Urinary Calcium Excretion

Modern Approaches to Pathogenesis, Treatment and Metaphylaxis of Urate Urolithiasis

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