Cargando…
Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management
BACKGROUND: Fanconi 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 abnor...
Autores principales: | , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061664/ https://www.ncbi.nlm.nih.gov/pubmed/29651604 http://dx.doi.org/10.1007/s00467-018-3952-0 |
_version_ | 1783342269385932800 |
---|---|
author | Sathyanarayana, Vijaya Lee, Beth Wright, Neville B. Santos, Rui Bonney, Denise Wynn, Robert Patel, Leena Chandler, Kate Cheesman, Ed Schindler, Detlev Webb, Nicholas J. A. Meyer, Stefan |
author_facet | Sathyanarayana, Vijaya Lee, Beth Wright, Neville B. Santos, Rui Bonney, Denise Wynn, Robert Patel, Leena Chandler, Kate Cheesman, Ed Schindler, Detlev Webb, Nicholas J. A. Meyer, Stefan |
author_sort | Sathyanarayana, Vijaya |
collection | PubMed |
description | BACKGROUND: Fanconi 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. METHODS: We 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. RESULTS: Thirty 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. CONCLUSIONS: Evaluation 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00467-018-3952-0) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-6061664 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-60616642018-08-09 Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management Sathyanarayana, Vijaya Lee, Beth Wright, Neville B. Santos, Rui Bonney, Denise Wynn, Robert Patel, Leena Chandler, Kate Cheesman, Ed Schindler, Detlev Webb, Nicholas J. A. Meyer, Stefan Pediatr Nephrol Original Article BACKGROUND: Fanconi 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. METHODS: We 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. RESULTS: Thirty 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. CONCLUSIONS: Evaluation 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. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00467-018-3952-0) contains supplementary material, which is available to authorized users. Springer Berlin Heidelberg 2018-04-12 2018 /pmc/articles/PMC6061664/ /pubmed/29651604 http://dx.doi.org/10.1007/s00467-018-3952-0 Text en © The Author(s) 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
spellingShingle | Original Article Sathyanarayana, Vijaya Lee, Beth Wright, Neville B. Santos, Rui Bonney, Denise Wynn, Robert Patel, Leena Chandler, Kate Cheesman, Ed Schindler, Detlev Webb, Nicholas J. A. Meyer, Stefan Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management |
title | Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management |
title_full | Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management |
title_fullStr | Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management |
title_full_unstemmed | Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management |
title_short | Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management |
title_sort | patterns and frequency of renal abnormalities in fanconi anaemia: implications for long-term management |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061664/ https://www.ncbi.nlm.nih.gov/pubmed/29651604 http://dx.doi.org/10.1007/s00467-018-3952-0 |
work_keys_str_mv | AT sathyanarayanavijaya patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT leebeth patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT wrightnevilleb patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT santosrui patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT bonneydenise patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT wynnrobert patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT patelleena patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT chandlerkate patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT cheesmaned patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT schindlerdetlev patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT webbnicholasja patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement AT meyerstefan patternsandfrequencyofrenalabnormalitiesinfanconianaemiaimplicationsforlongtermmanagement |