ReviewIndian journal of pediatrics2020
Genetic Testing in Pediatric Kidney Disease.
Review in Indian journal of pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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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.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.Genome medicine · 2026Article
- Genome-based medicine in Korea: the Korea National Institute of Health infrastructure for precision medicine.Childhood kidney diseases · 2026Review
- Symptomatic Hypokalemia Due to NPHP1-Associated Nephronophthisis.Indian journal of pediatrics · 2025Article
- Kidney Transplantation in Congenital Abnormalities of Kidney and Urinary Tract (CAKUT).Biomedicines · 2025Review
- Epidemiology and disease burden of pediatric congenital anomalies of the kidney and urinary tract: a national cross-sectional study of hospitalized children in China.World journal of pediatrics : WJP · 2025Article
- Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.Genetics in medicine open · 2025Article
- Article
- A step-by-step, multidisciplinary strategy to maximize the yield of genetic testing in pediatric patients with chronic kidney diseases.Pediatric nephrology (Berlin, Germany) · 2024Article
- [Research progress on monogenic inherited glomerular diseases with central nervous system symptoms].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- The Role of Genetic Testing in Pediatric Renal Diseases: Diagnostic, Prognostic, and Social Implications.Cureus · 2023Review
- COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.BMC nephrology · 2022Article
- Emerging Role of Clinical Genetics in CKD.Kidney medicine · 2022Review
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.Kidney international · 2022Review
- Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.Journal of cellular and molecular medicine · 2021Article
- Pediatric Nephrology: Update for Clinicians.Indian journal of pediatrics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The advent of next gene sequencing technology has led to the publication of a profusion of papers on monogenic contributions to pediatric kidney disorders. It started with the discovery of mutations in the podocin gene in steroid resistant nephrotic syndrome (SRNS). It is realized now that genetic disorders contribute to about 30% of chronic renal diseases in children, and significantly to many other kidney disorders. This paper covers briefly the new genetic technologies, the benefits of genetic testing, and the indication for genetic testing in various kidney disorders. It covers SRNS, congenital anomalies of the kidney, cystic kidney disease, tubulopathies, nephronophthisis, Fabry disease, Alport and Lowe syndrome. Atypical hemolytic uremic syndrome, renal tubular acidosis and nephrolithiasis are also covered briefly. It is hoped that this paper will encourage the pediatricians to investigate monogenic disorders of the kidney as it helps in their proper classification, informs prognosis, suggests specific treatment and aids in genetic and reproductive counseling.
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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.