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Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)
Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney and liver insufficiency are also present in this disorder. Cranioectodermal dysplasia is an autosomal rec...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8914039/ https://www.ncbi.nlm.nih.gov/pubmed/35281231 http://dx.doi.org/10.3389/fped.2022.834064 |
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author | Ryżko, Joanna Walczak-Sztulpa, Joanna Czubkowski, Piotr Latos-Bieleńska, Anna Kowalski, Adam Stefanowicz, Marek Jarmużek, Wioletta Grenda, Ryszard Pawłowska, Joanna |
author_facet | Ryżko, Joanna Walczak-Sztulpa, Joanna Czubkowski, Piotr Latos-Bieleńska, Anna Kowalski, Adam Stefanowicz, Marek Jarmużek, Wioletta Grenda, Ryszard Pawłowska, Joanna |
author_sort | Ryżko, Joanna |
collection | PubMed |
description | Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney and liver insufficiency are also present in this disorder. Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome. Until 2021 more than 70 patients have been reported with CED, however, an orthotopic liver transplantation has been reported only in one case. Here, we present a case report of sequential liver-after-kidney transplantation in a male patient affected by CED. The kidney and liver transplantation was performed at the age of 7 and 12 years, respectively. Patients with Sensenbrenner syndrome require a multidisciplinary medical management and should regularly be followed-up by hepatologists and nephrologists, as the liver and kidney diseases are the major cause of morbidity and mortality. |
format | Online Article Text |
id | pubmed-8914039 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-89140392022-03-12 Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) Ryżko, Joanna Walczak-Sztulpa, Joanna Czubkowski, Piotr Latos-Bieleńska, Anna Kowalski, Adam Stefanowicz, Marek Jarmużek, Wioletta Grenda, Ryszard Pawłowska, Joanna Front Pediatr Pediatrics Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney and liver insufficiency are also present in this disorder. Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome. Until 2021 more than 70 patients have been reported with CED, however, an orthotopic liver transplantation has been reported only in one case. Here, we present a case report of sequential liver-after-kidney transplantation in a male patient affected by CED. The kidney and liver transplantation was performed at the age of 7 and 12 years, respectively. Patients with Sensenbrenner syndrome require a multidisciplinary medical management and should regularly be followed-up by hepatologists and nephrologists, as the liver and kidney diseases are the major cause of morbidity and mortality. Frontiers Media S.A. 2022-02-25 /pmc/articles/PMC8914039/ /pubmed/35281231 http://dx.doi.org/10.3389/fped.2022.834064 Text en Copyright © 2022 Ryżko, Walczak-Sztulpa, Czubkowski, Latos-Bieleńska, Kowalski, Stefanowicz, Jarmużek, Grenda and Pawłowska. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Ryżko, Joanna Walczak-Sztulpa, Joanna Czubkowski, Piotr Latos-Bieleńska, Anna Kowalski, Adam Stefanowicz, Marek Jarmużek, Wioletta Grenda, Ryszard Pawłowska, Joanna Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) |
title | Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) |
title_full | Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) |
title_fullStr | Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) |
title_full_unstemmed | Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) |
title_short | Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia) |
title_sort | case report: sequential liver after kidney transplantation in a patient with sensenbrenner syndrome (cranioectodermal dysplasia) |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8914039/ https://www.ncbi.nlm.nih.gov/pubmed/35281231 http://dx.doi.org/10.3389/fped.2022.834064 |
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