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

2021 ◽  
pp. 362-366
Author(s):  
Mohammad Khaled Alsultan ◽  
Zeina Nizar Bdeir ◽  
Qussai Hassan ◽  
Tahani Ali
Keyword(s):  
Von Willebrand Disease ◽  
Bleeding Complications ◽  
Nephropathic Cystinosis ◽  
Dialysis Access ◽  
Type Iii ◽  
First Case ◽  
New Association ◽  
Stage Renal Disease ◽  
End Stage ◽  
Von Willebrand

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.

scholarly journals Guided Implant Surgery to Reduce Morbidity in Von Willebrand Disease Patients: A Case Report

2018 ◽  
Vol 12 (1) ◽  
pp. 80-86 ◽  
Author(s):  
Mathilde Fénelon ◽  
Sabine Castet ◽  
Jean-Christophe Fricain ◽  
Sylvain Catros
Keyword(s):  
Case Report ◽  
Surgical Procedure ◽  
Invasive Procedure ◽  
Von Willebrand Disease ◽  
Bleeding Complications ◽  
Excessive Bleeding ◽  
Implant Surgery ◽  
Implant Placement ◽  
First Case ◽  
Von Willebrand

Introduction: Von Willebrand Disease is the most common inherited bleeding disorder. In the general population, 1/8000 patients are affected. Primary hemostasis (platelet adhesion) and coagulation (protection of Factor VIII) are altered. Among several bleeding symptoms, these patients suffer from excessive bleeding of oral mucosa and dental management requires a close collaboration between haematologists and oral surgeons. Materials & Methods: Guided implant surgery can be used to increase the accuracy of implant placement and to reduce the overall morbidity of this surgical procedure by using a flapless surgery technique. Case Report: We report the case of a 49 years old woman having a Type 2A von Willebrand disease and who presented to replace tooth #.46 because of interradicular fracture and peri-apical infection. After planning the implant surgery using Codiagnostix® software, a surgical guide was prepared. The patient received 4 injections of von Willebrand factor (Willfactin®) for this particular surgical procedure. The implant was placed immediately after tooth removal and local haemostasis was performed. Discussion: The follow-up was uneventful and the implant was restored by a crown 4 months later. Two cases of implant placement in haemophiliac patients have been reported before in the literature. Conclusion: As far as we know, this is the first case report of implant placement in a patient having a von Willebrand disease. The use of guided surgery allowed to perform a mini-invasive procedure and thus contributed to prevent bleeding complications in this patient.

Characterization of Partial Gene Deletions in Type III von Willebrand Disease with Alloantibody Inhibitors

1994 ◽  
Vol 72 (02) ◽  
pp. 180-185 ◽  
Author(s):  
David J Mancuso ◽  
Elodee A Tuley ◽  
Ricardo Castillo ◽  
Norma de Bosch ◽  
Pler M Mannucci ◽  
...  
Keyword(s):  
Von Willebrand Factor ◽  
Von Willebrand Disease ◽  
Pcr Analysis ◽  
Gene Deletions ◽  
Factor Gene ◽  
Type Iii ◽  
Large Deletions ◽  
Von Willebrand ◽  
Willebrand Factor

Summaryvon Willebrand factor gene deletions were characterized in four patients with severe type III von Willebrand disease and alloantibodies to von Willebrand factor. A PCR-based strategy was used to characterize the boundaries of the deletions. Identical 30 kb von Willebrand factor gene deletions which include exons 33 through 38 were identified in two siblings of one family by this method. A small 5 base pair insertion (CCTGG) was sequenced at the deletion breakpoint. PCR analysis was used to detect the deletion in three generations of the family, including two family members who are heterozygous for the deletion. In a second family, two type III vWD patients, who are distant cousins, share an -56 kb deletion of exons 22 through 43. The identification and characterization of large vWF gene deletions in these type III vWD patients provides further support for the association between large deletions in both von Willebrand factor alleles and the development of inhibitory alloantibodies.

Management of Type 2B von Willebrand Disease during Pregnancy

2017 ◽  
Vol 137 (2) ◽  
pp. 89-92 ◽  
Author(s):  
David McLaughlin ◽  
Ron Kerr
Keyword(s):  
Autosomal Dominant ◽  
Case Reports ◽  
Management Plan ◽  
Von Willebrand Disease ◽  
Best Management ◽  
First Case ◽  
Von Willebrand ◽  
Willebrand Factor ◽  
Ristocetin Cofactor ◽  
Platelet Transfusions

Type 2B von Willebrand disease is a rare bleeding condition resulting in thrombocytopenia and a reduction in large VWF multimers. It usually has an autosomal dominant pattern of inheritance. We report the management of a patient with type 2B von Willebrand disease, whose diagnosis was confirmed by demonstration of a R1306W mutation, through her first pregnancy. The patient's von Willebrand factor (VWF) antigen and VWF ristocetin cofactor levels rose throughout pregnancy, with an associated drop in the platelet count. The patient was successfully managed through labour to a surgical delivery with VWF concentrate, platelet transfusions and tranexamic acid. The patient delivered a male baby who was found to have inherited type 2B von Willebrand disease and had a significant cephalhaematoma at delivery. The baby was managed with VWF concentrate and platelet transfusions and made a full recovery. There is a lack of evidence to guide the best management of pregnant patients with type 2B von Willebrand disease. We adopted a pragmatic management plan, in keeping with other published case reports. To the best of our knowledge, this is the first case report in which the child was found to have inherited type 2B von Willebrand disease and encountered bleeding problems, making this case unique amongst the published literature.

scholarly journals Distal Radial Artery Ligation for Dialysis Access Steal Syndrome

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
David Fung ◽  
Yaasin Abdulrehman
Keyword(s):  
Radial Artery ◽  
Surgical Techniques ◽  
Limb Ischemia ◽  
Definitive Treatment ◽  
Dialysis Access ◽  
Artery Ligation ◽  
Stage Renal Disease ◽  
End Stage ◽  
Steal Syndrome ◽  
Distal Radial Artery

Renal replacement therapy is the definitive treatment for end stage renal disease apart from transplant. Steal syndrome, which can lead to distal limb ischemia, is a rare but serious complication in patients who undergo hemodialysis with an arteriovenous fistula. We present a case of a 48-year-old female with limited options for dialysis access who presented with symptoms of steal syndrome. Given the need to keep her current fistula, we opted to treat her with distal radial artery ligation. This case report summarizes the various surgical techniques available for treating dialysis access-associated steal syndrome and why distal radial artery ligation should be considered a viable management strategy, especially in the context of our patient.

Successful treatment with belimumab in a patient with refractory systemic lupus erythematosus after initiation of hemodialysis: Considering the synergistic effect of belimumab and immunological burn-out phenomenon in end stage renal disease patients on hemodialysis

2020 ◽  
Author(s):  
Shota Ogura ◽  
Kazunori Karasawa ◽  
Wataru Ono ◽  
Ayaki Ito ◽  
Momoko Seki ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
B Cells ◽  
Renal Disease ◽  
Lupus Erythematosus ◽  
End Stage Renal Disease ◽  
Systemic Lupus ◽  
Transitional B Cells ◽  
First Case ◽  
Stage Renal Disease ◽  
End Stage

Abstract Background: In patients with systemic lupus erythematosus (SLE), disease activity can persist even after initiating dialysis. However, guidelines for the treatment of patients with SLE after dialysis is initiated have not yet been established. Case presentation: We describe the case of a 62-year-old Japanese woman who was diagnosed with SLE at age 12, progressed to end-stage renal disease (ESRD), and initiated hemodialysis for lupus nephritis. However, SLE activity persisted after hemodialysis. Cyclophosphamide and mycophenolate mofetil were administered in addition to prednisolone and immunoadsorption, but this treatment strategy was limited by side effects. The patient was subsequently treated with belimumab, and the activity of SLE decreased rapidly. Conclusions: ESRD patients with SLE show no significant decrease in transitional B cells, and have elevated levels of B-cell activating factor (BAFF). Both transitional B cells and BAFF are important therapeutic targets for belimumab, indicating that patients with ESRD may benefit from belimumab therapy. However, the effects of belimumab may be potentiated in patients with uremia, who may be more susceptible to adverse events such as infections. Patients with SLE who receive belimumab after initiation of hemodialysis therefore require careful follow-up. Here we report the first case of belimumab administration in a patient with SLE after initiation of hemodialysis.

Clinical Considerations in Hemodialysis Access Intervention

2018 ◽  
pp. 594-614
Author(s):  
Eric K. Hoffer
Keyword(s):  
Renal Disease ◽  
Arteriovenous Fistula ◽  
End Stage Renal Disease ◽  
Morbidity And Mortality ◽  
Dialysis Access ◽  
Hemodialysis Access ◽  
National Kidney Foundation ◽  
Clinical Considerations ◽  
Stage Renal Disease ◽  
End Stage

Interventional radiologists developed and refined the endovascular approaches to maintenance of the permanent arteriovenous vascular accesses that are integral to the provision of hemodialysis for patients with end stage renal disease. As methods of percutaneous arteriovenous fistula creation expand the scope of IR, this chapter reviews the clinical indications and preferences pertinent to dialysis access creation with respect to National Kidney Foundation Recommendations. Accesses remain imperfect, plagued by the development of flow-limiting intimal hyperplastic stenoses, and require monitoring and maintenance to minimize complications, morbidity and mortality. The measures of dialysis access function used in the surveillance of vascular accesses that indicate potential stenosis, and the utility of pre-occlusion recanalization of these stenoses are discussed. Complications specific to dialysis access interventions are also addressed.

Effects of Dietary Manipulation with Fish Oil on Platelet Receptors for von Willebrand Factor and Fibrinogen in Patients with End-Stage Renal Disease

Nephron ◽  
1995 ◽  
Vol 69 (2) ◽  
pp. 170-170 ◽  
Author(s):  
Mario Liani ◽  
Ettore Tresca ◽  
Giuseppe Nubile ◽  
Filippo Salvati ◽  
Pierre Trolliet ◽  
...  
Keyword(s):  
Renal Disease ◽  
Fish Oil ◽  
Von Willebrand Factor ◽  
End Stage Renal Disease ◽  
Dietary Manipulation ◽  
Platelet Receptors ◽  
Stage Renal Disease ◽  
End Stage ◽  
Von Willebrand ◽  
Willebrand Factor

scholarly journals Catheter-Related ESBL-Producing Leclercia adecarboxylata Septicemia in Hemodialysis Patient: An Emerging Pathogen?

2020 ◽  
Vol 2020 ◽  
pp. 1-3 ◽  
Author(s):  
Roaa Sultan Alosaimi ◽  
Mai Muhmmed kaaki
Keyword(s):  
End Stage Renal Disease ◽  
Hemodialysis Patient ◽  
Multidrug Resistant ◽  
Beta Lactamase ◽  
Emerging Pathogen ◽  
First Case ◽  
Stage Renal Disease ◽  
End Stage ◽  
Multidrug Resistant Strain ◽  
Producer Strains

We report a multidrug-resistant strain of Leclercia adecarboxylata which was responsible for a catheter-related bacteremia, in a 50-year-old female with an end-stage renal disease on hemodialysis. The isolated strain was an extended beta-lactamase producer. Based on a literature review of L. adecarboxylata, there have been only two reports of extended beta-lactamase producer strains. To our knowledge, this is the first case reported in Saudi Arabia.

scholarly journals Hemostatic Parameters according to Renal Function and Time after Transplantation in Brazilian Renal Transplanted Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Ana Paula Lucas Mota ◽  
Patrícia Nessralla Alpoim ◽  
Roberta Carvalho de Figueiredo ◽  
Ana Cristina Simões e Silva ◽  
Karina Braga Gomes ◽  
...  
Keyword(s):  
Renal Function ◽  
Glomerular Filtration ◽  
Plasma Levels ◽  
Cross Sectional ◽  
Hemostatic System ◽  
Stage Renal Disease ◽  
End Stage ◽  
Von Willebrand ◽  
Willebrand Factor

Kidney transplantation is the key for patients with end-stage renal disease, improving quality of life and longer survival. However, kidney transplant triggers an intense inflammatory response and alters the hemostatic system, but the pathophysiological mechanisms of these changes are not completely understood. The aim of this cross-sectional cohort study was to investigate hemostatic biomarkers in Brazilian renal transplanted patients according to renal function and time after transplantation. A total of 159 renal transplanted patients were enrolled and D-Dimer (D-Di), Thrombomodulin (TM), von Willebrand Factor (VWF), and ADAMTS13 plasma levels were assessed by ELISA. An increase of D-Di was observed in patients with higher levels of creatinine. ADAMTS13 levels were associated with creatinine plasma levels and D-Di levels with Glomerular Filtration Rate. These results suggested that D-Di and ADAMTS13 can be promising markers to estimate renal function. ADAMTS13 should be investigated throughout the posttransplant time to clarify the participation of this enzyme in glomerular filtration and acceptance or rejection of the graft in Brazilian transplanted patients.

Sign in / Sign up

Export Citation Format

Share Document