ArticleAmerican journal of medical genetics. Part A2012
Renal anomalies in Alagille syndrome: a disease-defining feature.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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Who cites it
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 121 citations in OpenAlex.
- Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome.Journal of pediatric gastroenterology and nutrition · 2018Pooled it
- Pathogenic variants in COL4A3, COL4A4, JAG1, and NPHS2 genes in focal segmental glomerulosclerosis: Insights from targeted gene panel sequencing.Molecular genetics and metabolism reports · 2026Article
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- Alagille syndrome case series: five new variants and two large deletions.European journal of pediatrics · 2026Article
- Genomic spectrum of congenital heart disease combined with kidney and urinary tract anomalies uncovered by exome sequencing and array-CGH.Frontiers in cell and developmental biology · 2026Article
- Kidney and vascular involvement in Alagille syndrome.Pediatric nephrology (Berlin, Germany) · 2025Review
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT).Pediatric nephrology (Berlin, Germany) · 2024Review
- Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis.Hepatology communications · 2023Article
- Management of adults with Alagille syndrome.Hepatology international · 2023Review
- A child with chronic kidney disease and hepatic dysfunction: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- Alagille-like syndrome with surprising karyotype: a case report.Journal of medical case reports · 2023Article
- Clinical and Genetic Characteristics of Alagille Syndrome in Adults.Journal of clinical and translational hepatology · 2023Article
- Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.Frontiers in pharmacology · 2023Review
- Autosomal dominant tubulointerstitial kidney disease: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Preserved renal function during long-term follow-up in children with chronic liver disease.Acta paediatrica (Oslo, Norway : 1992) · 2022Article
- Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β.Pediatric nephrology (Berlin, Germany) · 2022Review
- Multidisciplinary Management of Alagille Syndrome.Journal of multidisciplinary healthcare · 2022Review
- Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review.Therapeutics and clinical risk management · 2022Review
- Cystatin C: best biomarker for acute kidney injury and estimation of glomerular filtration rate in childhood cirrhosis.European journal of pediatrics · 2021Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Alagille syndrome (ALGS) is an autosomal dominant condition, primarily caused by mutations in JAGGED1. ALGS is defined by cholestatic liver disease, cardiac disease and involvement of the face, skeleton, and eyes with variable expression of these features. Renal involvement has been reported though not formally described. The objective of this study was to systematically characterize the renal involvement in ALGS. We performed a retrospective review of 466 JAGGED1 mutation-positive ALGS patients. Charts were reviewed for serum biochemistries, renal ultrasounds or other imaging, urinalysis, and clinical reports from pediatric nephrologists. The clinical data were reviewed by two pediatric hepatologists and a pediatric nephrologist. Of 466 charts reviewed we found 187 yielded evaluable renal information. Of these, 73/187 were shown to have renal involvement, representing 39% of the study cohort. Renal dysplasia was the most common anomaly seen. Genotype analysis of the JAGGED1 mutations in the patients with and without renal involvement did not reveal an association with mutation type. From the study we concluded that renal involvement has a prevalence of 39% in ALGS in our evaluable patients. Renal dysplasia is the most common renal anomaly. This finding correlates with the known role of the Notch pathway in glomerular development. Since renal disease of the type seen in ALGS can impair growth and impact liver transplantation, there is a clear need for a prospective study of renal involvement in ALGS and the development of guidelines for evaluation and management. These data also suggest that renal involvement be considered the sixth defining criterion for ALGS.
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Registered trials
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