Visual inspection reveals a novel pathogenic mutation in missed by the variant caller in whole‑exome sequencing.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common type of inherited cystic kidney disease. The feasibility of whole‑exome sequencing (WES) to obtain molecular diagnosis of ADPKD is still in question as previous studies showed conflicting results. Utilizing WES on a patient with ADPKD, standard bioinformatics pipeline demonstrated no pathogenic variant in the genes of interest.

Lessons of the month 2: A case of inappropriate drug-drug interaction in kidney transplant.

Carbamazepine remains a first-line antiepileptic medication for the treatment of partial seizures. Despite its widespread use, carbamazepine has significant neurotoxicity and hypersensitivity reactions. We report a case of a patient post-kidney transplant who was on regular carbamazepine for childhood epilepsy and developed nystagmus, diplopia and a broad-base gait after receiving diltiazem.

Comparison of Clinical Outcomes Among Deceased Donor Kidney Transplant Recipients Before and After Utilizing Estimated Posttransplant Survival Score for Kidneys Allocation in Malaysia.

Background: The Malaysian Kidney Allocation System implemented in 2020 includes only kidney transplant candidates with estimated posttransplant survival (EPTS) score of ≤20%, in replacement of Malaysian Organs Sharing System, which was based solely on dialysis vintage. We aim to compare the clinical outcomes of deceased-donor kidney transplant recipients (DDKTRs) with EPTS ≤20% to those with EPTS >20%.

Methods: All DDKTRs between January 1, 2015, and December 29, 2020, were included and categorized into 2 groups: EPTS ≤20% and EPTS >20%.

Value of Baseline Post-Transplant MAG3 Renal Scintigraphy in the Evaluation of Graft Function.

Introduction: Accurate assessment of renal graft function in the early post-transplant period is crucial, as it influences clinical management and graft prognostication. However, there are limitations in current available modalities. MAG3 scintigraphy could contribute vital information on graft function.

First Successful Kidney Transplantation After Hematopoeitic Stem Cell Transplantation in Malaysia.

Promising outcomes of kidney transplantation following hematopoeitic stem cell transplantation has been reported. Data from some centers have demonstrated stable graft function without long term immunosuppression. We present our experience with the first successful case in Malaysia.

Biomarkers as diagnostic tests for delayed graft function in kidney transplantation.

Delayed graft function (DGF) after kidney transplantation is associated with inferior outcomes and higher healthcare costs. DGF is currently defined as the requirement for dialysis within seven days post-transplant; however, this definition is subjective and nonspecific. Novel biomarkers have potential to improve objectivity and enable earlier diagnosis of DGF.