ReviewPediatric nephrology (Berlin, Germany)2013
Hereditary causes of kidney stones and chronic kidney disease.
Review in Pediatric nephrology (Berlin, Germany), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 144 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
144 citing papers in PubMed, 2 syntheses or guidelines pooled it, 273 citations in OpenAlex.
- International Alliance of Urolithiasis (IAU) guidelines on the management of pediatric urolithiasis.Urolithiasis · 2024Guideline
- Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement.Journal of nephrology · 2016Guideline
- Nedosiran in pediatric patients with PH1 and relatively preserved kidney function, a phase 2 study (PHYOX8).Pediatric nephrology (Berlin, Germany) · 2025Trial
- Trial
- Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.European journal of internal medicine · 2018Trial
- Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria.Pediatric nephrology (Berlin, Germany) · 2026Review
- Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.Current opinion in urology · 2026Review
- Positive association between serum calcium-phosphorus ratio and kidney stone prevalence: Analysis of NHANES data (2007-2020).Medicine · 2026Article
- Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia.Pediatric nephrology (Berlin, Germany) · 2026Article
- Urolithiasis in Children-Clinical Picture, Pathogenesis, and Diagnostic Approach.Biomolecules · 2026Review
- 2,8-Dihydroxyadenine disrupts epithelial integrity and alters kidney cell phenotype in vitro.Journal of molecular medicine (Berlin, Germany) · 2026Article
- When Stones Begin: Age of Onset Reveals the Systemic Metabolic Nature of Nephrolithiasis.Research and reports in urology · 2026Article
- Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease.Italian journal of pediatrics · 2025Article
- Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novelRenal failure · 2025Article
- Partial correction of cystinuria type A in mice via kidney-targeted transposon delivery.Molecular therapy. Nucleic acids · 2025Article
- Population Pharmacokinetic and Pharmacodynamic Modelling and Simulation for Nedosiran Clinical Development and Dose Guidance in Pediatric Patients with Primary Hyperoxaluria Type 1.Clinical pharmacokinetics · 2025Article
- Novel Variant ofJournal of clinical research in pediatric endocrinology · 2025Article
- Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.International urology and nephrology · 2025Review
- A Case of Cystinuria With Compound Heterozygous Mutations Both inElectrolyte & blood pressure : E & BP · 2025Article
- PHYOX3: Nedosiran Long-Term Safety and Efficacy in Patients With Primary Hyperoxaluria Type 1.Kidney international reports · 2025Article
84 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
Abstract
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children. Recurrent kidney stone disease and nephrocalcinosis, particularly in pre-pubertal children, should alert the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition and knowledge of the five disorders has frequently resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. A high index of suspicion coupled with early diagnosis may reduce or even prevent the serious long-term complications of these diseases. In this paper, we review the epidemiology, clinical features, diagnosis, treatment, and outcome of patients with APRT deficiency, cystinuria, Dent disease, FHHNC, and PH, with an emphasis on childhood manifestations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.