Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report

Nephropathic cystinosis (NC) is a rare autosomal recessive disease, which causes cysteine-crystals accumulation with progression to end-stage renal disease (ESRD). Von willebrand disease (VWD) type III is a rare subtype of von willebrand factor (VWF) abnormality, which is characterized by severe red...

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Autores principales:	Mohammad Khaled Alsultan, Zeina Nizar Bdeir, Qussai Hassan, Tahani Ali
Formato:	article
Lenguaje:	EN
Publicado:	Karger Publishers 2021
Materias:	nephropathic cystinosis von willebrand type iii kidney transplantation Diseases of the genitourinary system. Urology RC870-923
Acceso en línea:	https://doaj.org/article/7da27a3499c04018a41ab54b1a94450b
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spelling	oai:doaj.org-article:7da27a3499c04018a41ab54b1a94450b2021-12-02T12:40:23ZSuccessful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report2296-970510.1159/000520794https://doaj.org/article/7da27a3499c04018a41ab54b1a94450b2021-11-01T00:00:00Zhttps://www.karger.com/Article/FullText/520794https://doaj.org/toc/2296-9705Nephropathic cystinosis (NC) is a rare autosomal recessive disease, which causes cysteine-crystals accumulation with progression to end-stage renal disease (ESRD). Von willebrand disease (VWD) type III is a rare subtype of von willebrand factor (VWF) abnormality, which is characterized by severe reduction of VWF and factor VIII activity. A 16-year-old patient with NC and VWD type III presented with uremic symptoms due to ESRD. Dialysis access was inserted and followed by hemodialysis (HD) for 4 months with a proper infusion of blood products. While renal transplant remains the treatment of choice of NC and superior to chronic HD, bleeding complications were a major concern in this case with coexisting VWD type III. However, with the meticulous implementation of the Hematology team’s daily recommendations, renal transplantation was successfully performed. This is the first case that mentions a new association between two inherited rare disorders, NC and VWD type III, and this entity has not been reported before. Moreover, successful kidney transplantation in our patient supports the possibility of these procedures in hereditary clotting disorders.Mohammad Khaled AlsultanZeina Nizar BdeirQussai HassanTahani AliKarger Publishersarticlenephropathic cystinosisvon willebrand type iiikidney transplantationDiseases of the genitourinary system. UrologyRC870-923ENCase Reports in Nephrology and Dialysis, Vol 11, Iss 3, Pp 362-366 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	nephropathic cystinosis von willebrand type iii kidney transplantation Diseases of the genitourinary system. Urology RC870-923
spellingShingle	nephropathic cystinosis von willebrand type iii kidney transplantation Diseases of the genitourinary system. Urology RC870-923 Mohammad Khaled Alsultan Zeina Nizar Bdeir Qussai Hassan Tahani Ali Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report
description	Nephropathic cystinosis (NC) is a rare autosomal recessive disease, which causes cysteine-crystals accumulation with progression to end-stage renal disease (ESRD). Von willebrand disease (VWD) type III is a rare subtype of von willebrand factor (VWF) abnormality, which is characterized by severe reduction of VWF and factor VIII activity. A 16-year-old patient with NC and VWD type III presented with uremic symptoms due to ESRD. Dialysis access was inserted and followed by hemodialysis (HD) for 4 months with a proper infusion of blood products. While renal transplant remains the treatment of choice of NC and superior to chronic HD, bleeding complications were a major concern in this case with coexisting VWD type III. However, with the meticulous implementation of the Hematology team’s daily recommendations, renal transplantation was successfully performed. This is the first case that mentions a new association between two inherited rare disorders, NC and VWD type III, and this entity has not been reported before. Moreover, successful kidney transplantation in our patient supports the possibility of these procedures in hereditary clotting disorders.
format	article
author	Mohammad Khaled Alsultan Zeina Nizar Bdeir Qussai Hassan Tahani Ali
author_facet	Mohammad Khaled Alsultan Zeina Nizar Bdeir Qussai Hassan Tahani Ali
author_sort	Mohammad Khaled Alsultan
title	Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report
title_short	Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report
title_full	Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report
title_fullStr	Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report
title_full_unstemmed	Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report
title_sort	successful kidney transplant for nephropathic cystinosis in a patient with von willebrand disease type iii: the first case report
publisher	Karger Publishers
publishDate	2021
url	https://doaj.org/article/7da27a3499c04018a41ab54b1a94450b
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Successful Kidney Transplant for Nephropathic Cystinosis in a Patient with Von Willebrand Disease Type III: The First Case Report

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