Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Nov 30;11(3):362-366.
doi: 10.1159/000520794. eCollection 2021 Sep-Dec.

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

Mohammad Khaled Alsultan  1 , Zeina Nizar Bdeir  1 , Qussai Hassan  2 , Tahani Ali  3
Affiliations
Case Reports

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

Mohammad Khaled Alsultan et al. Case Rep Nephrol Dial. .

Abstract

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.

Keywords: Kidney transplantation; Nephropathic cystinosis; Von willebrand type III.

PubMed Disclaimer

Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Slit-lamp examination on admission showed cystine crystal deposits on the cornea.
See this image and copyright information in PMC

References

    1. Saudubray J-M, van den Berghe G, Walter JH. Inborn metabolic diseases diagnosis and treatment. 5th ed. Berlin-Heidelberg: Springer; 2012.
    1. Lichtman MA, Kenneth Kaushansky M, Josef T, Prchal M, Levi MM, Burns LJ, et al. Williams manual of hematology. 9th ed. McGraw-Hill Book Co; 2017.
    1. Hermans C, Altisent C, Batorova A, Chambost H, De Moerloose P, Karafoulidou A, et al. Replacement therapy for invasive procedures in patients with haemophilia: literature review, European survey and recommendations. Haemophilia. 2009;15((3)):639–58. - PubMed
    1. Connell NT, Flood VH, Brignardello-Petersen R, Abdul-Kadir R, Arapshian A, Couper S, et al. Ash isth nhf wfh 2021 guidelines on the management of von willebrand disease. Blood Adv. 2021;5((1)):301–25. - PMC - PubMed
    1. Langman CB, Barshop BA, Deschênes G, Emma F, Goodyer P, Lipkin G, et al. Controversies and research agenda in nephropathic cystinosis: conclusions from a “kidney disease: improving global outcomes” (KDIGO) controversies conference. Kidney Int. 2016;89((6)):1192–203. - PubMed

Publication types