دورية أكاديمية

Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)

التفاصيل البيبلوغرافية
العنوان: Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)
المؤلفون: Joanna Ryżko, Joanna Walczak-Sztulpa, Piotr Czubkowski, Anna Latos-Bieleńska, Adam Kowalski, Marek Stefanowicz, Wioletta Jarmużek, Ryszard Grenda, Joanna Pawłowska
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
بيانات النشر: Frontiers Media S.A., 2022.
سنة النشر: 2022
المجموعة: LCC:Pediatrics
مصطلحات موضوعية: ciliopathy, Sensenbrenner syndrome (cranioectodermal dysplasia), renal failure, liver disease, kidney and liver transplantation, Pediatrics, RJ1-570
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2296-2360
Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.834064/full; https://doaj.org/toc/2296-2360
DOI: 10.3389/fped.2022.834064
URL الوصول: https://doaj.org/article/8821847e1d514bc5b8050da41d62b402
رقم الأكسشن: edsdoj.8821847e1d514bc5b8050da41d62b402
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:22962360
DOI:10.3389/fped.2022.834064