ArticlePediatric nephrology (Berlin, Germany)2018
Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management.
Article in Pediatric nephrology (Berlin, Germany), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Longitudinal clinical manifestations of Fanconi anemia: A systematized review.Blood reviews · 2024Pooled it
- Fanconi Anemia in a Young Adult Male Presenting with Pancytopenia and Bilateral Ectopic Kidneys.Annals of African medicine · 2026Article
- Late Effects Following Hematopoietic Stem Cell Transplantation Among Childhood Transplant Survivors with Fanconi AnemiaTurkish journal of haematology : official journal of Turkish Society of Haematology · 2025Article
- DNA phenotyping and mapping intragenic deletion mutations in Fanconi anemia: Patterns and diagnostic inferences.Journal, genetic engineering & biotechnology · 2024Article
- Article
- Pathological consequences of DNA damage in the kidney.Nature reviews. Nephrology · 2023Review
- Modeling Podocyte Ontogeny and Podocytopathies with the Zebrafish.Journal of developmental biology · 2023Review
- Acute kidney injury in pediatric hematopoietic cell transplantation: critical appraisal and consensus.Pediatric nephrology (Berlin, Germany) · 2022Review
- Kidney complications in 107 Fanconi anemia patients submitted to hematopoietic cell transplantation.European journal of pediatrics · 2022Article
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
- Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.Best practice & research. Clinical haematology · 2021Review
- Article
- ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.The Journal of experimental medicine · 2021Article
- Review
- Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.European journal of medical genetics · 2020Article
- Urothelial carcinoma within the prostatic utricle of an adult with hypospadias and Fanconi anemia.Urology case reports · 2020Article
- Chromosome instability syndromes.Nature reviews. Disease primers · 2019Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFanconi anaemia (FA) is an inherited disease with bone marrow failure, variable congenital and developmental abnormalities, and cancer predisposition. With improved survival, non-haematological manifestations of FA become increasingly important for long-term management. While renal abnormalities are recognized, detailed data on patterns and frequency and implications for long-term management are sparse.
methodsWe reviewed clinical course and imaging findings of FA patients with respect to renal complications in our centre over a 25-year period to formulate some practical suggestions for guidelines for management of renal problems associated with FA.
resultsThirty patients including four sibling sets were reviewed. On imaging, 14 had evidence of anatomical abnormalities of the kidneys. Two cases with severe phenotype, including renal abnormalities, had chronic kidney disease (CKD) at diagnosis. Haematopoietic stem cell transplantation was complicated by significant acute kidney injury (AKI) in three cases. In three patients, there was CKD at long-term follow-up. All patients had normal blood pressure.
conclusionsEvaluation of renal anatomy with ultrasound imaging is important at diagnostic workup of FA. While CKD is uncommon at diagnosis, our data suggests that the incidence of CKD increases with age, in particular after haematopoietic stem cell transplantation. Monitoring of renal function is essential for management of FA. Based on these long-term clinical observations, we formulate some practical guidelines for assessment and management of renal abnormalities in FA.
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