Determining the etiology of end-stage renal disease (ESRD) constitutes a great challenge in the context of renal transplantation. Evidence is lacking on the genetic findings for adult renal transplant recipients through exome sequencing (ES). Adult patients on kidney transplant waitlist were recruited from 2017 to 2019. Trio-ES was conducted for the families who had multiple affected individuals with nephropathy or clinical suspicion of a genetic kidney disease owing to early onset or extrarenal features. Pathogenic variants were confirmed in 62 from 115 families post sequencing for 421 individuals including 195 health family members as potential living donors. Seventeen distinct genetic disorders were identified confirming the priori diagnosis in 33 (28.7%) families, modified or reclassified the clinical diagnosis in 27 (23.5%) families, and established a diagnosis in two families with ESRD of unknown etiology. In 14.8% of the families, we detected promising variants of uncertain significance in candidate genes associated with renal development or renal disease. Furthermore, we reported the secondary findings of oncogenes in 4.4% of the patients and known single-nucleotide polymorphisms associated with pharmacokinetics in our cohort to predict the drug levels of tacrolimus and mycophenolate. The diagnostic utility of the genetic findings has provided new clinical insight in most families that help with preplanned renal transplantation.

BackgroundRecently, the demand for minimally invasive techniques in kidney transplantation (MIKT) has increased. However, there is only a limited number of studies on MIKT, especially in pediatric kidney transplants. Hence, we evaluated whether there is a difference between the super-minimal incision technique in pediatric kidney transplantation (SMIPKT) and conventional kidney transplantation (CKT).MethodsBetween December 2018 and November 2021, 34 patients who underwent pediatric kidney transplantation with a follow-up of 1 month were enrolled. A paired kidney analysis was performed to minimize donor variability and bias. The SMIPKT and CKT groups included 17 patients.ResultsThere was no difference in baseline clinical characteristics, including age, sex, the donor/ recipient weight ratio (DRWR), choice of dialysis modality, pretransplant dialysis time, BMI, renal artery number, cause of ESRD, DGF, length of the kidney and cold ischemic time, tacrolimus concentration at 3 and 7 days, serum creatinine at 1 month and postoperative complication rate between the SMIPKT and CKT groups (all P > 0.05). However, the length of the incision, operation time, intraoperative bleeding, postoperative drainage volume within 24 h and Vancouver scar scale at 1 month were statistically significant (all P < 0.05).ConclusionCompared with CKT, our results indicated that SMIPKT showed more satisfactory cosmetic results, shorter SMIPKT operating time, and reduced intraoperative bleeding and postoperative drainage volume within 24 h. There were also no statistical differences in postoperative complications. Hence, we suggest that SMIPKT is an appropriate method for pediatric kidney transplantation.