scholarly journals Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation

2020 ◽  
Author(s):  
Ravi Kumar Singh ◽  
Veronica Arora ◽  
Vaibhav Tiwari ◽  
Deepti Gupta ◽  
Anurag Gupta ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Genetic Testing ◽  
Renal Transplant ◽  
Early Onset ◽  
Novel Mutation ◽  
Phenotype Correlation ◽  
Col4a5 Gene ◽  
The Family ◽  
Stage Renal Disease ◽  
End Stage

AbstractAlport's syndrome (AS) is a rare disorder characterized by a triad of deafness, progressive renal dysfunction, and ocular abnormalities. We present a patient of early onset AS with a novel frameshift pathogenic variant in the COL4A5 gene and discuss the utility of genetic testing in the family as well as for the transplant recipient. The patient was a 17-year-old boy with end-stage renal disease (ESRD) and hearing loss. In the setting of ESRD, since hearing loss and anterior lenticonus was detected on an ophthalmologic exam, AS was suspected. On genetic testing, a novel hemizygous frameshift variant was identified in the COL4A5 gene (c.1392del (p.Asp464GlufsTer10)), which was also segregated in the family. In this report, we will discuss the early severe presentation, typical ocular findings, genotype–phenotype correlation, and implications of genetic testing for renal transplant. We will also explore the challenges of genetic testing in developing countries and the potential of pharmacogenomics.

Managing Caregiver Burden among Families of Patients with End-Stage Renal Disease

2019 ◽  
Vol 21 (1) ◽  
Author(s):  
Yemisi Okikiade Oyegbile ◽  
Petra Brysiewicz
Keyword(s):  
Renal Disease ◽  
Family Caregivers ◽  
Caregiver Burden ◽  
End Stage Renal Disease ◽  
Qualitative Data ◽  
Government Support ◽  
Implementation Phase ◽  
The Family ◽  
Stage Renal Disease ◽  
End Stage

Family caregivers of patients with end-stage renal disease (ESRD) play a significant role in providing substantial care for a prolonged period for their sick relatives, often with very limited resources, making it a difficult environment. Government support for family caregivers of patients with ESRD is lacking in Nigeria, increasing their vulnerability to caregiver burden and its consequences. An action research study using a complimentary mixed-method approach was used to develop the intervention model for managing caregiver burden. Quantitative data were collected to measure the extent of caregiver burden using a Zarit Burden Interview questionnaire for 96 family caregivers, while individual in-depth interviews with 15 participants provided the qualitative data. Integrating the quantitative and qualitative data led to the identification of four moderators to manage the caregiver burden in this study. The model for managing caregiver burden was developed from the findings, using stressors and associated moderators of caregiving, and the role played by culture and finance in this context. An implementation checklist was developed, which was used by registered nurses to implement the concepts in the model with the family caregivers during the model implementation phase. Family caregivers of patients with ESRD need to be supported by nurses during the caregiving process. Nurses can increase caregivers’ identity and knowledge of the disease as a way of preventing the family caregivers from being overwhelmed by their caregiving role.

scholarly journals Providers’ View on the First Kidney Transplantation Center in Ethiopia: Experience From Past to Present

2021 ◽  
Vol 8 ◽  
pp. 233339282110183
Author(s):  
Tariku Shimels ◽  
Abrham Getachew ◽  
Mekdim Tadesse ◽  
Alison Thompson
Keyword(s):  
Kidney Transplantation ◽  
Renal Transplant ◽  
Health Care Providers ◽  
Study Data ◽  
Care Providers ◽  
Transplant Center ◽  
Transplantation Center ◽  
Stage Renal Disease ◽  
End Stage

Introduction: Transplantation is the optimal management for patients with end-stage renal disease. In Ethiopia, the first national kidney transplantation center was opened at St. Paul’s Hospital Millennium Medical College in September 2015. The aim of this study was to explore providers’ views and experiences of the past to present at this center. Methods: A qualitative study design was employed from 1st November to 15th December, 2019. To ensure that appropriate informants would provide rich study data, 8 health care providers and top management members were purposefully chosen for in-depth interviews. A maximum variation sampling method was considered to include a representative sample of informants. Interviews were digitally audio-recorded, and transcribed verbatim. Transcribed data was coded and analyzed using Qualitative Data Analysis (QDA) Minor Lite software and Microsoft-Excel. Result: The participants (5 males and 3 females) approached were from different departments of the renal transplant center, and the main hospital. Eight main themes and 18 sub-themes were generated initially from all interviews totaling to 109 index codes. Further evaluation and recoding retained 5 main themes, and 14 sub-themes. The main themes are; challenges experienced during and after launching the center, commitment, sympathy and satisfaction, outcomes of renal transplant, actions to improve the quality of service, and how the transplant center should operate. Providers claim that they discharge their responsibilities through proper commitment and compassion, paying no attention to incentive packages. They also explained that renal transplantation would have all the outcomes related to economic, humanistic and clinical facets. Conclusion and Recommendation: A multitude of challenges were faced during and after the establishment of the first renal transplant center in Ethiopia. Providers discharge their responsibility through a proper compassion for patients. Concerned stakeholders should actively collaborate to improve the quality of renal transplant services in the center.

Is Hepatitis C More Aggressive in Renal Transplant Patients Than in Patients With End-Stage Renal Disease?

2006 ◽  
Vol 40 (5) ◽  
pp. 444-448 ◽  
Author(s):  
Renata M. Perez ◽  
Adalgisa S. P. Ferreira ◽  
Jos?? O. Medina-Pestana ◽  
Miguel Cendoroglo-Neto ◽  
Valeria P. Lanzoni ◽  
...  
Keyword(s):  
Hepatitis C ◽  
Renal Transplant ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Transplant Patients ◽  
Renal Transplant Patients ◽  
Stage Renal Disease ◽  
End Stage

A185 Effectiveness of bariatric surgery in end-stage renal disease requiring dialysis to increase renal transplant eligibility

2019 ◽  
Vol 15 (10) ◽  
pp. S56-S58
Author(s):  
Basem Soliman ◽  
Nabil Tariq ◽  
Dan Mija ◽  
Nwabunie Nwana ◽  
Rita Bosetti ◽  
...  
Keyword(s):  
Bariatric Surgery ◽  
Renal Transplant ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals Acute Kidney Injury in Pregnant Patient With Pancreas-Kidney Transplant Caused by Abdominal Compartment Syndrome: A Case Presentation, Review of Literature, and Proposal of Diagnostic Approach

2019 ◽  
Vol 6 ◽  
pp. 205435811986194 ◽  
Author(s):  
Magdalena Michalska ◽  
Kevin Wen ◽  
Robert P. Pauly
Keyword(s):  
Abdominal Pain ◽  
Renal Transplant ◽  
Compartment Syndrome ◽  
Abdominal Compartment Syndrome ◽  
End Stage Renal Disease ◽  
Renal Allograft ◽  
Stage Renal Disease ◽  
End Stage ◽  
Abdominal Compartment ◽  
In Pregnancy

Rationale: With increasing number of complex medical patients with renal transplant who get pregnant, clinicians need to be aware of abdominal compartment syndrome which may masquerade as acute renal allograft injury in pregnancy. Presenting concerns of the patient: A 34-year-old nulliparous Caucasian female with end-stage renal disease (ESRD) due to type 1 diabetes mellitus who received a simultaneous pancreas-kidney transplant (SPK) in 2006 and then after rejection of renal allograft another, kidney-only allograft from a donation after circulatory death became pregnant in May 2013 with dichorionic, diamniotic twins without reproductive technology, and during pregnancy, she developed two episodes of acute injury to the renal allograft. Diagnoses: End-stage renal disease secondary to type I diabetes, acute renal allograft injury, tacrolimus toxicity, abdominal pain. Interventions (including prevention and lifestyle): She received intravenous hydration, medications contributing to renal failure were held, and pain and nauseas were controlled appropriately. Abdominal compartment syndrome was managed by maintaining intravascular pressure and optimizing regional and systemic vascular perfusion by appropriate fluid balance, evacuating intraluminal contents by decompressing gastrointestinal system, and improving abdominal wall compliance by using appropriate analgesics, sedation, and patient positioning. Outcomes: With advancing pregnancy, the patient developed progressive abdominal pain, nausea, leg edema, and rising creatinine that were not responsive to ongoing therapies and required delivery via Cesarean section at 31 weeks of gestational age. Lessons learned: In the era of increasing number of pregnant renal transplant patients with multiple medical issues, we need organized approach to diagnosis of acute renal allograft injury in pregnancy and we need to consider abdominal compartment syndrome as one of the causes.

scholarly journals Improved survival with renal transplantation for end-stage renal disease due to granulomatosis with polyangiitis: data from the United States Renal Data System

2018 ◽  
Vol 77 (9) ◽  
pp. 1333-1338 ◽  
Author(s):  
Zachary S Wallace ◽  
Rachel Wallwork ◽  
Yuqing Zhang ◽  
Na Lu ◽  
Frank Cortazar ◽  
...  
Keyword(s):  
United States ◽  
Renal Transplantation ◽  
Renal Transplant ◽  
End Stage Renal Disease ◽  
Granulomatosis With Polyangiitis ◽  
The United States ◽  
Risk Of Death ◽  
All Cause Mortality ◽  
Stage Renal Disease ◽  
End Stage

BackgroundRenal transplantation is the optimal treatment for selected patients with end-stage renal disease (ESRD). However, the survival benefit of renal transplantation among patients with ESRD attributed to granulomatosis with polyangiitis (GPA) is unknown.MethodsWe identified patients from the United States Renal Data System with ESRD due to GPA (ESRD-GPA) between 1995 and 2014. We restricted our analysis to waitlisted subjects to evaluate the impact of transplantation on mortality. We followed patients until death or the end of follow-up. We compared the relative risk (RR) of all-cause and cause-specific mortality in patients who received a transplant versus non-transplanted patients using a pooled logistic regression model with transplantation as a time-varying exposure.ResultsDuring the study period, 1525 patients were waitlisted and 946 received a renal transplant. Receiving a renal transplant was associated with a 70% reduction in the risk of all-cause mortality in multivariable-adjusted analyses (RR=0.30, 95% CI 0.25 to 0.37), largely attributed to a 90% reduction in the risk of death due to cardiovascular disease (CVD) (RR=0.10, 95% 0.06–0.16).DiscussionRenal transplantation is associated with a significant decrease in all-cause mortality among patients with ESRD attributed to GPA, largely due to a decrease in the risk of death to CVD. Prompt referral for transplantation is critical to optimise outcomes for this patient population.

Distribution of cyclosporine in blood of a renal-transplant recipient with type V hyperlipoproteinemia.

1987 ◽  
Vol 33 (3) ◽  
pp. 423-428 ◽  
Author(s):  
H L Verrill ◽  
R E Girgis ◽  
R E Easterling ◽  
B S Malhi ◽  
W F Mueller
Keyword(s):  
Renal Transplant ◽  
Plasma Lipids ◽  
Kidney Tissue ◽  
Therapeutic Drug ◽  
Type V Hyperlipoproteinemia ◽  
High Concentrations ◽  
Stage Renal Disease ◽  
End Stage ◽  
Type V ◽  
Severe Type

Abstract A patient with severe type V hyperlipoproteinemia and chronic end-stage renal disease received a renal transplant and therapy with cyclosporine. Concentrations of the drug in plasma as determined by liquid chromatography appeared extraordinarily high for the dose ingested. When we measured the drug in the plasma, plasma cleared by ultracentrifugation, leukocytes, erythrocytes, and whole blood, we found that the high concentrations of cyclosporine were associated with the chylomicrons that always were present in this patient's blood. Cyclosporine added directly to this patient's plasma was less associated with the plasma lipids. Isolated lymphocytes and kidney slices incubated with plasma from this patient bound no more drug than when incubated with nonhyperlipemic plasma containing cyclosporine at a normal therapeutic concentration. We conclude that the cyclosporine associated with the chylomicrons in this patient was not biologically available to either lymphocytes or kidney tissue. We strongly recommend the use of chylomicron-cleared plasma for therapeutic drug monitoring of cyclosporine in type V hyperlipoproteinemic patients.

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