ReviewInternational journal of molecular sciences2020
Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.
Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Renal complications in patients with chronic hypoparathyroidism on conventional therapy: a systematic literature review : Renal disease in chronic hypoparathyroidism.Reviews in endocrine & metabolic disorders · 2021Pooled it
- An unusual presentation of miliary tuberculosis with medullary nephrocalcinosis in an infant.Radiology case reports · 2026Article
- Molecular and Genetic Determinants of Nephrocalcinosis: Mechanisms, Genotype-Phenotype Correlations, and Precision Medicine.International journal of molecular sciences · 2026Review
- Cell Calcification Models and Their Implications for Medicine and Biomaterial Research.Advanced healthcare materials · 2026Review
- Etiology and longitudinal kidney outcomes in children with nephrocalcinosis: a retrospective cohort study.Frontiers in pediatrics · 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
- Porous perspectives: a comprehensive review of medullary sponge kidney.International urology and nephrology · 2025Review
- Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded.MedComm · 2025Review
- Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.Kidney international reports · 2025Article
- Prevalence, risk factors and effect of curative parathyroidectomy on nephrocalcinosis in Asian-Indian patients with symptomatic primary hyperparathyroidism.Journal of endocrinological investigation · 2025Article
- Clinical characteristics of nephrocalcinosis in a tertiary children's hospital.Frontiers in pediatrics · 2025Article
- Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.Genetics in medicine open · 2025Article
- Dent's Disease: A Cause of Monogenic Kidney Stones and Nephrocalcinosis.Journal of personalized medicine · 2024Article
- Genetic susceptibility of urolithiasis: comprehensive results from genome-wide analysis.World journal of urology · 2024Article
- Renal calcification in children with renal tubular acidosis: What a paediatrician should know.World journal of clinical pediatrics · 2023Review
- Etiology and prognosis of nephrocalcinosis according to gestational age in Korean children.BMC pediatrics · 2023Article
- Radiological features of nephrocalcinosis, a common but forgotten entity.The British journal of radiology · 2023Review
- The Site and Type ofKidney international reports · 2023Article
- Research progress on renal calculus associate with inborn error of metabolism.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The abnormal deposition of calcium within renal parenchyma, termed nephrocalcinosis, frequently occurs as a result of impaired renal calcium handling. It is closely associated with renal stone formation (nephrolithiasis) as elevated urinary calcium levels (hypercalciuria) are a key common pathological feature underlying these clinical presentations. Although monogenic causes of nephrocalcinosis and nephrolithiasis are rare, they account for a significant disease burden with many patients developing chronic or end-stage renal disease. Identifying underlying genetic mutations in hereditary cases of nephrocalcinosis has provided valuable insights into renal tubulopathies that include hypercalciuria within their varied phenotypes. Genotypes affecting other enzyme pathways, including vitamin D metabolism and hepatic glyoxylate metabolism, are also associated with nephrocalcinosis. As the availability of genetic testing becomes widespread, we cannot be imprecise in our approach to nephrocalcinosis. Monogenic causes of nephrocalcinosis account for a broad range of phenotypes. In cases such as Dent disease, supportive therapies are limited, and early renal replacement therapies are necessitated. In cases such as renal tubular acidosis, a good renal prognosis can be expected providing effective treatment is implemented. It is imperative we adopt a precision-medicine approach to ensure patients and their families receive prompt diagnosis, effective, tailored treatment and accurate prognostic information.
Indexed as
Identifiers
What OpenQuestion holds
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.