24 Hour urine metabolic differences between solitary and multiple stone formers: Results of the Collaboration on Urolithiasis in Pediatrics (CUP) working group

Saitz, Theodore R.; Mongoue-Tchokote, Solange; Sharadin, Cynthia; Giel, Dana W.; Corbett, Sean T.; Kovačević, Larisa; Bayne, Aaron

doi:10.1016/j.jpurol.2017.03.015

Cited by 5 publications

(3 citation statements)

References 23 publications

(28 reference statements)

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“…It is distinguishable from the common metabolic factors such as diabetes, hypertension, and obesity in adults. Hypercalciuria is the most common metabolic abnormality detected in children with NL or NC, and is especially highly significant for recurrent NL or progressive NC (Gürgöze and Sarı 2011 ; Saitz et al 2017 ; Spivacow et al 2008 ).…”

Section: Introductionmentioning

confidence: 99%

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort

Huang

Zhu

et al. 2022

Mol Genet Genomics

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Objective Hereditary factors are the main cause of pediatric nephrolithiasis (NL)/nephrocalcinosis (NC). We summarized the genotype–phenotype correlation of hereditary NL/NC in our center, to evaluate the role of genetic testing in early diagnosis. Methods The clinical data of 32 NL/NC cases, which were suspected to have an inherited basis, were retrospectively analyzed from May 2017 to August 2020. The trio-whole exome sequencing was used as the main approach for genetic testing, variants were confirmed by Sanger sequencing, and pathogenicity analysis according to protein function was predicted with custom-developed software. Results Causative monogenic mutations were detected in 24 of 32 NL/NC patients, and copy number variation was detected in one patient. A summary of manifestations in patients with inherited diseases revealed a significant degree of growth retardation, increased urinary excretion of the low-molecular weight protein, hypercalciuria, electrolyte imbalances, and young age of onset to be common in heredity disease. In addition, some patients had abnormal renal function (3 ppm 25). The most frequent pathology identified was distal renal tubular acidosis (with inclusion of SLC4A1, ATP6V1B1, and ATP6VOA4 genes), followed by Dent disease (CLCN5 and OCRL1 genes), primary hyperoxaluria (PH) (AGXT and HOGA1 genes) and Kabuki syndrome (KMT2D gene), which was more likely to present as NC or recurrent stone and having a higher correlation with a specific biochemical phenotype and extrarenal phenotype. Conclusion The etiology of NL/NC is heterogeneous. This study explored in depth the relationship between phenotype and genotype in 32 patients, and confirmed that genetic testing and clinical phenotype evaluation enable the precision medicine approach to treating patients.

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Section: Introductionmentioning

confidence: 99%

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort

Huang

Zhu

et al. 2022

Mol Genet Genomics

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“…Abnormal urine studies were defined a priori as follows: calcium >4 mg/kg; oxalate >45 mg/1.73 m 2 ; citrate <310 mg/1.73 m 2 (girls) or <365 mg/1.73 m 2 (boys) (15). Inadequate samples were defined as previously described by Saitz et al (16) as ≤9 mg/kg/creatinine for our primary analysis. Acknowledging variable definitions for inadequate urine specimens, a sensitivity analysis used a more restrictive definition utilized by Litholink Inc., specifically, adequate creatinine/kg in boys of 11.9-24.4 and in girls of 8.7-20.3.…”

Section: -Hour Urine Analysismentioning

confidence: 99%

Factors Associated With Abnormal Initial 24-Hour Urine Studies in Pediatric Nephrolithiasis: Can We Better Select Patients for Evaluation?

Moyer¹,

Ellison²,

Medairos³

et al. 2022

Front. Urol.

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BackgroundChildren, especially adolescents, constitute the most rapid growing demographic of nephrolithiasis. Due to the risks of recurrent stone disease, a 24-h urine analysis is recommended for the evaluation of children at risk of recurrent nephrolithiasis or those who are otherwise interested in further evaluation. However, data regarding patients most likely to have abnormal urine studies are sparse. We aim to identify predictors of abnormal 24-h urine studies in children presenting for evaluation of nephrolithiasis.MethodsA retrospective review of children ≤17 years of age with a diagnosis of nephrolithiasis at both primary children’s hospitals within our state from 2012 to 2017 was performed. Children with an adequate initial 24-h urine study (creatinine ≥9 mg/kg/24 h) not on a thiazide or potassium citrate during the study were included. Factors associated with any abnormality [calcium ≥4 mg/kg; oxalate ≥45 mg/1.73 m2; citrate ≤310 mg/1.73 m2 (girls) or ≤365 mg/1.73 m2 (boys)] were evaluated as well as magnesium, uric acid, volume, sodium, and phosphorus.ResultsA total of 111 children were included, 69 of whom (62%) had at least one abnormal result. Of factors hypothesized to be associated with an abnormal 24-h urine study, only sex was significant (p = 0.001). Boys had a greater proportion of hypercalciuria (55%) and hypocitraturia (73%) and a slightly lower proportion of hyperoxaluria (48%) than those in girls.ConclusionMale sex was the only factor associated with an abnormal 24-h urine study, largely driven by increased rates of hypercalciuria and hypocitraturia in boys.

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“…Among them, oxalate, calcium, and uric acid are comparatively more important. Supersaturation of these factors causes a significant increase in the risk of kidney stone formation and its recurrence (9,10).…”

Section: Introductionmentioning

confidence: 99%

Biochemical urinalysis of healthy kidney and stone-generating kidney in unilateral urolithiasis

et al. 2019

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Introduction: Oxalate, calcium, uric acid, and citrate are among the most widely known biochemical factors for urinary stone formation. In most cases, urolithiasis occurs as unilateral despite the role of systemic metabolic factors in kidney stone formation. Objectives: The present research aimed to compare these urinary biochemical factors in healthy and stone-generating kidneys in patients with unilateral urolithiasis. Patients and Methods: Forty patients with unilateral urolithiasis participated in this cross-sectional, descriptive-analytical study. The patients were hospitalized in kidney surgery and kidney urology ward of Kashani hospital of Shahrekord, southwest Iran. After the implementation of crushing stone using transurethral lithotripsy (TUL), 5-10 cc of urinary sample was collected from each kidney. An AutoAnalyzer (Mindray Company, Bs–360 model) and laboratory kits (Bionic Company) were used to measure calcium, uric acid, and creatinine. Moreover, a manual method and Darman Faraz Kave company kits were applied to measure the levels of oxalate and citrate. Results on the healthy and stone-generating kidneys of each patient were separately analyzed using the Stata 13 software. Results: The difference in the mean ratio of uric acid, oxalate, and citrate to creatinine in the healthy kidneys and stone-generating kidneys was not significant. However, the mean UCa/UCr ratio in the healthy kidneys was 0.27±0.07 and relatively greater than that in the stone-generating kidneys (0.11±0.04) (P=0.06). Conclusion: The studied topical factors and secretory disorders had not any significant relationship with unilateral urolithiasis. The cause of unilateral urolithiasis should be searched in other factors such as metabolic factors, main positions of individual during 24 hours and sleeping, and anatomic disorders of kidney stone, or multifactorial.

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24 Hour urine metabolic differences between solitary and multiple stone formers: Results of the Collaboration on Urolithiasis in Pediatrics (CUP) working group

Cited by 5 publications

References 23 publications

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort

Factors Associated With Abnormal Initial 24-Hour Urine Studies in Pediatric Nephrolithiasis: Can We Better Select Patients for Evaluation?

Biochemical urinalysis of healthy kidney and stone-generating kidney in unilateral urolithiasis

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