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Case report: a 58 -year -old man with small kidneys and elevated liver enzymes
BACKGROUND: The conjunction of hepatitis and renal disease can be seen in several clinical context, including karyomegalic nephritis (KIN). Karyomegalic nephritis (KIN) is a rare genetic disease, with less than 50 cases reported, which incidence is probably underestimated. We report here an unusual...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099816/ https://www.ncbi.nlm.nih.gov/pubmed/32220227 http://dx.doi.org/10.1186/s12882-020-01762-4 |
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author | Dash, Jonathan Saudan, Patrick Paoloni-Giacobino, Ariane Moll, Solange de Seigneux, Sophie |
author_facet | Dash, Jonathan Saudan, Patrick Paoloni-Giacobino, Ariane Moll, Solange de Seigneux, Sophie |
author_sort | Dash, Jonathan |
collection | PubMed |
description | BACKGROUND: The conjunction of hepatitis and renal disease can be seen in several clinical context, including karyomegalic nephritis (KIN). Karyomegalic nephritis (KIN) is a rare genetic disease, with less than 50 cases reported, which incidence is probably underestimated. We report here an unusual case presentation of KIN with obtention of several organ biopsies and a novel mutation leading to the disease. CASE PRESENTATION: A 58 year old Caucasian without relevant family history presents with advanced chronic kidney disease, elevated liver enzymes and recurrent pulmonary infection. Familial history was negative. Renal biopsy revealed a chronic tubulo-intertsitial nephritis with enlarged and irregular hyperchromatic nuclei. Karyomegalic nephritis (KIN) was confirmed by genetic testing with a non-sense mutation and a deletion in the Fanconi anemia associated nuclease 1 (FAN1) gene. CONCLUSIONS: KIN is rare disease to be suspected in the presence of renal disease, biological hepatitis and recurrent pulmonary infections, even without a familial history. Diagnosis of this condition is crucial to perform family screening, avoid progression factors, and adapt post transplantation immunosuppression. Finally, avoiding familial heterozygote donors appears of major importance in this condition. |
format | Online Article Text |
id | pubmed-7099816 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-70998162020-03-30 Case report: a 58 -year -old man with small kidneys and elevated liver enzymes Dash, Jonathan Saudan, Patrick Paoloni-Giacobino, Ariane Moll, Solange de Seigneux, Sophie BMC Nephrol Case Report BACKGROUND: The conjunction of hepatitis and renal disease can be seen in several clinical context, including karyomegalic nephritis (KIN). Karyomegalic nephritis (KIN) is a rare genetic disease, with less than 50 cases reported, which incidence is probably underestimated. We report here an unusual case presentation of KIN with obtention of several organ biopsies and a novel mutation leading to the disease. CASE PRESENTATION: A 58 year old Caucasian without relevant family history presents with advanced chronic kidney disease, elevated liver enzymes and recurrent pulmonary infection. Familial history was negative. Renal biopsy revealed a chronic tubulo-intertsitial nephritis with enlarged and irregular hyperchromatic nuclei. Karyomegalic nephritis (KIN) was confirmed by genetic testing with a non-sense mutation and a deletion in the Fanconi anemia associated nuclease 1 (FAN1) gene. CONCLUSIONS: KIN is rare disease to be suspected in the presence of renal disease, biological hepatitis and recurrent pulmonary infections, even without a familial history. Diagnosis of this condition is crucial to perform family screening, avoid progression factors, and adapt post transplantation immunosuppression. Finally, avoiding familial heterozygote donors appears of major importance in this condition. BioMed Central 2020-03-27 /pmc/articles/PMC7099816/ /pubmed/32220227 http://dx.doi.org/10.1186/s12882-020-01762-4 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Dash, Jonathan Saudan, Patrick Paoloni-Giacobino, Ariane Moll, Solange de Seigneux, Sophie Case report: a 58 -year -old man with small kidneys and elevated liver enzymes |
title | Case report: a 58 -year -old man with small kidneys and elevated liver enzymes |
title_full | Case report: a 58 -year -old man with small kidneys and elevated liver enzymes |
title_fullStr | Case report: a 58 -year -old man with small kidneys and elevated liver enzymes |
title_full_unstemmed | Case report: a 58 -year -old man with small kidneys and elevated liver enzymes |
title_short | Case report: a 58 -year -old man with small kidneys and elevated liver enzymes |
title_sort | case report: a 58 -year -old man with small kidneys and elevated liver enzymes |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099816/ https://www.ncbi.nlm.nih.gov/pubmed/32220227 http://dx.doi.org/10.1186/s12882-020-01762-4 |
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