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The use of genetic testing within nephrology is increasing and its diagnostic yield depends on the methods utilized, patient selection criteria, and population characteristics. We performed exome sequencing (ES) analysis on 102 chronic kidney disease (CKD) patients with likely genetic kidney disease. Patients had diverse CKD subtypes with/without consanguinity, positive family history, and possible hereditary renal syndrome with extra-renal abnormalities or progressive kidney disease of unknown etiology. The identified genetic variants associated with the observed kidney phenotypes were then confirmed and reported. End-stage kidney disease was reported in 51% of the cohort and a family history of kidney disease in 59%, while known consanguinity was reported in 54%. Pathogenic/likely pathogenic variants were identified in 43 patients with a diagnostic yield of 42%, and clinically associated variants of unknown significance (VUS) were identified in further 21 CKD patients (21%). A total of eight novel predicted pathogenic variants and eight VUS were detected. The clinical utility of ES within the nephrology clinic was demonstrated allowing patient management to be disease-specific. In this cohort, ES detected a diagnostic molecular abnormality in 42% of patients with CKD phenotypes. Positive family history and high rates of consanguinity likely contributed to this high diagnostic yield.

Lung toxicity is a rare but serious side effect of sirolimus, a mammalian target of rapamycin inhibitor used as an immunosuppressive agent in solid-organ transplant recipients. We report a case of 67-year-old man who had living-related renal transplant 12 years previously that was complicated by chronic allograft dysfunction. He presented with fever, cough, and shortness of breath, and his chest imaging showed bilateral patchy and ground glass opacities. Before symptoms of lung toxicity, the patient's sirolimus levels were in the range of high normal. Bronchoalveolar lavage ruled out infection, and a transbronchial biopsy was inconclusive. A fluorodeoxyglucose positron emission tomogram scan showed high uptake in the area of lung opacities with a standard uptake value of 4.7. His symptoms improved after he was switched from sirolimus to tacrolimus, and a thoracic computed tomography scan after 6 weeks showed complete resolution. Pulmonary toxicity should be considered in any patient on sirolimus with respiratory symptoms and opacities on chest imaging. The role of fluorodeoxyglucose positron emission tomogram scan in evaluation of sirolimus-induced lung toxicity has not been previously described, and this is the first report of this type of scan finding indicating intense inflammation in this condition.

Coronavirus disease-19 (COVID-19) is associated with significant mortality. The elderly, patients with comorbidities, and solid organ transplant (SOT) recipients are particularly at risk. We observed a low incidence of severe disease in our population and aimed to determine the outcomes of COVID-19 (disease severity/intensive care unit [ICU] admissions/mortality) in SOT recipients.All SOT recipients diagnosed with COVID-19 were included. Their demographic and clinical data were recorded from the hospital electronic system. Patients were assigned to 1 of 4 stages of disease severity: stage A = asymptomatic, stage B = mild, stage C = moderate, and stage D = severe.Of the 3052 SOT recipients, 67 were diagnosed with COVID-19. The mean age was 52 years, and 69% were male. There were approximately 25% patients in stage A, 28% in stage B, 34% in stage C, and 12% in stage D. Patients in stages C and D were older than those in stage A (P = 0.04) or stage B (P = 0.03). Lactic dehydrogenase (P0.01) and D-dimer (P0.01) levels were higher across the stages. Approximately 70% of patients were admitted for a median duration of 9 days and the median follow-up was 35 days. Acute kidney injury occurred in 19% of patients, and 45% required supplementary oxygen. The symptomatic patients were treated with Hydroxychloroquine (83%), Azithromycin (89%), and Tocilizumab (23%). Around 15% of patients were admitted to ICU and 2 patients have died.Most SOT recipients developed mild to moderate COVID-19 infection; few required ICU admission and 2 patients have died. Remaining patients have recovered and have been discharged from the hospital.

Background Induction therapy with IL-2 receptor antagonist (IL2-RA) is recommended as a first-line agent in low immunological risk kidney transplant recipients. However, the role of IL2-RA in the setting of tacrolimus-based immunosuppression has not been fully investigated. Aims To compare different induction therapeutic strategies with 2 doses of basiliximab vs. no induction in low immunologic risk kidney transplant recipients as per KFSHRC protocol. Methods Prospective, randomized, double blind, non-inferiority, controlled clinical trial Expected outcomes 1. Primary outcomes: Biopsy-proven acute rejection within first year following transplant 2. Secondary outcomes: a. Patient and graft survival at 1 year b. eGFR at 6 months and at 12 months c. Emergence of de novo donor-specific antibodies (DSAs) Trial registration The study has been prospectively registered at clinicaltrials.gov (NTC: 04404127). Registered on 27 May 2020.

Primary focal segmental glomerulosclerosis recurrence occurs in 10% to 50% of recipients after kidney transplant and may affect both children and adults. Treatment after recurrence with plasma exchange and immunosuppression is quite variable and challenging, and those who do not respond usually progress to allograft failure. Podocyte injury and B7-1 expression and subsequently its blockade (abatacept) have been reported to be associated with complete remission of proteinuria in 4 patients with focal segmental glomerulosclerosis recurrence after kidney transplantation and in 1 patient with focal segmental glomerulosclerosis in native kidney. Here, we report our experience of successfully treating 3 consecutive patients with focal segmental glomerulosclerosis recurrence after kidney transplant with abatacept, which induced proteinuria remission.

Although the outcomes of ABO-incompatible (ABOi) kidney transplant recipients are quite favorable, these patients are at increased risk of early antibody-mediated rejection (AMR) and graft loss. Some studies have also shown high mortality in the ABOi group mainly due to increased risk of infections. The AMR rates have been reported anywhere from 50% in the literature. The outcomes of the ABOi kidney transplants in the Saudi population are not known. In this study, we aimed to determine the graft and patient survival in ABOi kidney transplant recipients in the Saudi population. We included all adult patients who underwent ABOi transplantation between 2007 and 2016. All patients received rituximab, therapeutic plasma exchange, thymoglobulin, intravenous antibiotics, and intravenous immunoglobulin. The maintenance immunosuppression was prednisone, mycophenolate mofetil, and tacrolimus. The data were collected from a prospectively maintained database. A total of 77 patients were included in the study. The most common blood group mismatch was A to O (44.2%), followed by B to O (26.0%) and A to B (16.9%). In the 1st year, 17% of patients developed acute cellular rejection and AMR occurred in 7.8% of patients. Two patients were diagnosed with BK nephropathy. In the 1st year, urinary tract infection occurred in 25 (32.5%) patients. No patient was diagnosed severe viral or fungal infection. In the 1st year, four grafts were lost (graft survival of 94.8%); all grafts were lost within two weeks, three due to AMR and one due to technical reason. One year patient survival was 100%. In this study of ABOi kidney transplant recipients, we observed low risks of infectious complications with excellent patient and graft survival. Our immunosuppressive protocol can be considered safe.

Background We have investigated whether blood ammonia is increased with worsening CKD. Methods Fifty eight subjects with a range of CKD were recruited for analysis of plasma ammonia and other electrolytes. Results The concentrations of plasma ammonia were all within the normal reference range and there was no correlation between ammonia and CKD without any effect of dialysis. Conclusions Blood ammonia is not elevated in or related to the severity of chronic kidney disease.

It is well-recognized that the arterio-venous (A/V) fistula is the best form of access to the circulation for maintenance haemodialysis [1]. The A/V fistula is less likely to fail than other methods of access, such as the Polytetrafluoroethylene graft, the tunnelled dialysis catheter and the emergency temporary dialysis catheter. Furthermore, a good A/V fistula reduces the risk of bacteraemia and the morbidity, mortality and hospitalization associated with that complication. Even when an A/V fistula has been in long-term use, it is possible for the access to be lost suddenly through thrombosis or localized infection. Under these circumstances, emergency temporary vascular access is required, using percutaneous polyurethane catheters inserted directly into the jugular or femoral veins. The risk of bacterial infection with these lines is high, ranging from localized infection at the exit site to bacteraemic illness with systemic symptoms and on to life-threatening conditions such as endocarditis, metastatic pyaemia and paravertebral abscess. We report an unusual case of metastatic infection in the form of acute endophthalmitis, and make some observations on clinical management of this rare condition.