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This comprehensive guide to polycystic kidney disease captures the growing knowledge of this common, potentially-fatal and hereditary disease. The first two sections of the book provide an overview of PKD gene structures, mutations and pathophysiologic mechanisms. This is followed by chapters focused on PKD’s clinical features, including renal and extrarenal manifestations, and appropriate management of patients. The final section covers current clinical trials and emerging therapies in PKD. Authored by experts in the field, this book provides the clinician and researcher with critical information on basic and translational science and clinical approaches in one concise resource.

Polycystic kidney disease --- Molecular aspects. --- Medicine. --- Nephrology. --- Medicine & Public Health. --- Internal medicine --- Kidneys --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- ADPKD (Disease) --- Autosomal dominant polycystic kidney disease --- Kidney, Polycystic --- PKD (Disease) --- Human chromosome abnormalities --- Kidney, Cystic

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The science of human genetics has advanced at an exponential pace since the double-helix structure of DNA was identified in 1953. Within only 25 years of that discovery, the first gene was sequenced. Subsequent efforts in the span of a few decades have brought advanced next-generation sequencing and new tools for genome editing, allowing scientists to write and rewrite the code of life. We are now realizing that genetics represents yet another system of information technology that follows Moore’s law, stating that computer processing power roughly doubles every two years. Importantly, with such rapid and sophisticated advancements, any tools or studies applicable to adult genetics can now also be applied to embryos.Genetic disorders affect 1% of live births and are responsible for 20% of pediatric hospitalizations and 20% of infant mortality. Many disorders are caused by recessive or X-linked genetic mutations carried by 85% of humans. Because assisted reproduction has armed us with technologies like in vitro fertilization that provide access to human embryos, we began to screen some genetic diseases simply by selecting sex. The first live births following preimplantation genetic testing (PGT) to identify sex in X-linked disease were reported by Alan Handyside in 1990. This groundbreaking work used the identification of male embryos and selective transfer of unaffected normal or carrier females as proof-of-concept to avoid genetic diseases, paving the way to extend the concept to PGT for monogenic diseases (PGT-M), including Mendelian single-gene defects (autosomal dominant/recessive, X-linked dominant/recessive), severe childhood lethality or early-onset disease, cancer predisposition, and HLA typing for histocompatible cord-blood stem cells’ transplantation. Later, we moved onto the identification and selection of euploid embryos by analysing all 23 pairs of chromosomes in 4–8 cells from the trophectoderm, called PGT for aneuploidy (PGT-A). PGT-A currently leverages next-generation sequencing technologies to uncover meiotic- and mitotic-origin aneuploidies affecting whole chromosomes, as well as duplications/deletions of small chromosome regions. A step forward was the use of structural chromosome rearrangements (PGT-SR) to identify Robertsonian and reciprocal translocations, inversions, and balanced vs. unbalanced rearrangements. Another advancement came with PGT for polygenic risk scoring (PGT-P). This technique takes us from learning how to read simple words to starting to understand poetry (i.e., evolving from PGT-M/A/SR to PGT-P for multifactorial, polygenic risk prediction). Moreover, we are moving from embryo selection to intervention because the genetic code is not only readable, but also re-writeable. Indeed, gene editing is now possible using tools like CRISPR/Cas9, which are applicable to all species, including human embryos.

extracellular vesicles --- exosomes --- microvesicles --- apoptotic bodies --- DNA --- preimplantation embryos --- murine blastocysts --- embryo --- uterus --- window of implantation --- PGT-A --- PGT-SR --- mosaicism --- embryo genetics --- chromosomal abnormality --- preimplantation genetic testing --- PGT-P --- polygenic risk scoring --- genomic index --- relative risk reduction --- combined preimplantation genetic testing --- Preimplantation genetic testing for monogenic disorders (PGT-M) --- Preimplantation genetic testing for aneuploidy assessment (PGT-A) --- Autosomal dominant polycystic kidney disease (ADPKD) --- male infertility --- advanced maternal age --- aneuploidy --- NGS --- segmental --- translocations --- monogenic disease --- multiplex PCR --- SNP array --- genome editing --- genetic diseases --- embryos --- vitrification --- ovarian response --- female age --- genetic testing --- reproductive health --- next-generation sequencing --- whole exome sequencing --- perinatal care --- infertility --- aneuploidies --- polygenic disease --- blastocyst --- endometrium --- implantation

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Advances in immunosuppression and kidney transplant techniques have led to significant improvements in the short-term survival of the renal allograft. Long-term graft survival, however, has relatively lagged behind and has now become one of the main problems in kidney transplantation. In this Special Issue, we discuss the recent research developments in kidney transplants that may affect long-term allografts, as well as the survival of the patient. The latest developments in living kidney donation are also explored.

Medicine --- malondialdehyde --- oxidative stress --- new-onset diabetes --- renal transplantation --- BK virus --- BK virus nephropathy --- kidney allograft --- transplantation --- Alport syndrome --- children --- autosomal dominant polycystic kidney disease --- epidemiology --- hospitalization --- kidney transplantation --- subarachnoid hemorrhage --- malignancy --- post-transplant malignancy --- renal cell carcinoma --- meta-analysis --- systematic reviews --- tacrolimus --- C/D-ratio --- pharmacokinetics --- opportunistic infection --- allograft survival --- urological complications --- ureteric stent --- urinary tract infection --- timing of removal --- living donor --- ethnicity --- age --- obesity --- genetic relationship donor/recipient --- atypical hemolytic uremic syndrome --- eculizumab --- glucose intolerance --- insulin secretion --- insulin resistance --- oral glucose tolerance test --- healthy subject --- hyperchloremia --- kidney graft dysfunction --- living donor kidney transplantation --- Uropathogenic E. coli --- UPEC --- phylogeny --- genomics --- antibiotic resistance --- virulence traits --- night-time renal transplantation --- graft survival --- patient survival/outcome --- surgical complications --- acute rejection --- lymphocyte --- CD45RC --- Belatacept --- cardiovascular high risk --- outcome --- machine perfusion --- organ preservation --- temperature --- hypothermic --- normothermic --- transplant --- proton-pump inhibitors --- iron --- iron deficiency --- polyomavirus --- BKV --- kidney --- glomerulus --- BKVAN --- nephropathy --- fluid management --- delayed graft function --- goal-directed fluid therapy --- calcineurin inhibitor nephrotoxcity --- C/D ratio --- tacrolimus metabolism --- ADPKD --- native nephrectomy --- patient outcome --- perioperative complications --- epidermal growth factor --- creatinine --- graft failure --- renal transplantation. --- new onset diabetes after renal transplantation --- single nucleotide polymorphisms --- n/a --- urinary biomarkers --- α-GST --- π-GST --- nephrotoxicity --- urinary excretion of N1-methylnicotinamide --- mortality --- niacin status --- dietary intake --- tryptophan --- vitamin B3 --- Kidney transplant --- vitamin C --- cancer mortality --- oxidative stress. --- mycophenolic acid --- immunosuppression --- plasmapheresis --- oxalate --- hyperoxaluria --- kidney transplant recipients --- post-transplantation diabetes mellitus --- all-cause mortality --- cardiovascular mortality --- infectious mortality --- magnesium --- hypomagnesaemia --- cancer --- kidney transplant --- survival --- living kidney donation --- living-donor kidney transplantation --- beliefs --- inequity --- ischemia reperfusion injury --- innate immune system --- adaptive immune system --- apoptosis --- necrosis --- hypoxic inducible factor --- endothelial dysfunction --- proton pump inhibitor --- transplant rejection --- GFR --- insulin-like growth factor 1 --- growth hormone --- muscle mass --- patient survival --- physical activity --- renal transplant recipients --- kidney transplant (KT) --- donor-specific antibodies (DSA) --- C3d-binding assay --- antibody-mediated rejection (AMR) --- arsenic --- diet --- fish consumption --- post-transplant diabetes mellitus --- N1-methyl-2-pyridone-5-carboxamide --- N1-methylnicotinamide --- urinary excretion --- kidney function --- biomarker --- branched chain amino acids --- posttransplant diarrhea --- methanogenesis --- Methanosphaera stadtmanae --- mucins --- sulfate-reducing bacteria --- acute humoral rejection --- first-line therapy --- outcomes --- proteasome inhibitor --- renal transplant --- transplant recipients --- calcineurin inhibitors --- FK506 --- pharmacokinetic --- fast tacrolimus metabolizers

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Advances in immunosuppression and kidney transplant techniques have led to significant improvements in the short-term survival of the renal allograft. Long-term graft survival, however, has relatively lagged behind and has now become one of the main problems in kidney transplantation. In this Special Issue, we discuss the recent research developments in kidney transplants that may affect long-term allografts, as well as the survival of the patient. The latest developments in living kidney donation are also explored.

malondialdehyde --- oxidative stress --- new-onset diabetes --- renal transplantation --- BK virus --- BK virus nephropathy --- kidney allograft --- transplantation --- Alport syndrome --- children --- autosomal dominant polycystic kidney disease --- epidemiology --- hospitalization --- kidney transplantation --- subarachnoid hemorrhage --- malignancy --- post-transplant malignancy --- renal cell carcinoma --- meta-analysis --- systematic reviews --- tacrolimus --- C/D-ratio --- pharmacokinetics --- opportunistic infection --- allograft survival --- urological complications --- ureteric stent --- urinary tract infection --- timing of removal --- living donor --- ethnicity --- age --- obesity --- genetic relationship donor/recipient --- atypical hemolytic uremic syndrome --- eculizumab --- glucose intolerance --- insulin secretion --- insulin resistance --- oral glucose tolerance test --- healthy subject --- hyperchloremia --- kidney graft dysfunction --- living donor kidney transplantation --- Uropathogenic E. coli --- UPEC --- phylogeny --- genomics --- antibiotic resistance --- virulence traits --- night-time renal transplantation --- graft survival --- patient survival/outcome --- surgical complications --- acute rejection --- lymphocyte --- CD45RC --- Belatacept --- cardiovascular high risk --- outcome --- machine perfusion --- organ preservation --- temperature --- hypothermic --- normothermic --- transplant --- proton-pump inhibitors --- iron --- iron deficiency --- polyomavirus --- BKV --- kidney --- glomerulus --- BKVAN --- nephropathy --- fluid management --- delayed graft function --- goal-directed fluid therapy --- calcineurin inhibitor nephrotoxcity --- C/D ratio --- tacrolimus metabolism --- ADPKD --- native nephrectomy --- patient outcome --- perioperative complications --- epidermal growth factor --- creatinine --- graft failure --- renal transplantation. --- new onset diabetes after renal transplantation --- single nucleotide polymorphisms --- n/a --- urinary biomarkers --- α-GST --- π-GST --- nephrotoxicity --- urinary excretion of N1-methylnicotinamide --- mortality --- niacin status --- dietary intake --- tryptophan --- vitamin B3 --- Kidney transplant --- vitamin C --- cancer mortality --- oxidative stress. --- mycophenolic acid --- immunosuppression --- plasmapheresis --- oxalate --- hyperoxaluria --- kidney transplant recipients --- post-transplantation diabetes mellitus --- all-cause mortality --- cardiovascular mortality --- infectious mortality --- magnesium --- hypomagnesaemia --- cancer --- kidney transplant --- survival --- living kidney donation --- living-donor kidney transplantation --- beliefs --- inequity --- ischemia reperfusion injury --- innate immune system --- adaptive immune system --- apoptosis --- necrosis --- hypoxic inducible factor --- endothelial dysfunction --- proton pump inhibitor --- transplant rejection --- GFR --- insulin-like growth factor 1 --- growth hormone --- muscle mass --- patient survival --- physical activity --- renal transplant recipients --- kidney transplant (KT) --- donor-specific antibodies (DSA) --- C3d-binding assay --- antibody-mediated rejection (AMR) --- arsenic --- diet --- fish consumption --- post-transplant diabetes mellitus --- N1-methyl-2-pyridone-5-carboxamide --- N1-methylnicotinamide --- urinary excretion --- kidney function --- biomarker --- branched chain amino acids --- posttransplant diarrhea --- methanogenesis --- Methanosphaera stadtmanae --- mucins --- sulfate-reducing bacteria --- acute humoral rejection --- first-line therapy --- outcomes --- proteasome inhibitor --- renal transplant --- transplant recipients --- calcineurin inhibitors --- FK506 --- pharmacokinetic --- fast tacrolimus metabolizers

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• Reference Manager
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Advances in immunosuppression and kidney transplant techniques have led to significant improvements in the short-term survival of the renal allograft. Long-term graft survival, however, has relatively lagged behind and has now become one of the main problems in kidney transplantation. In this Special Issue, we discuss the recent research developments in kidney transplants that may affect long-term allografts, as well as the survival of the patient. The latest developments in living kidney donation are also explored.

Medicine --- malondialdehyde --- oxidative stress --- new-onset diabetes --- renal transplantation --- BK virus --- BK virus nephropathy --- kidney allograft --- transplantation --- Alport syndrome --- children --- autosomal dominant polycystic kidney disease --- epidemiology --- hospitalization --- kidney transplantation --- subarachnoid hemorrhage --- malignancy --- post-transplant malignancy --- renal cell carcinoma --- meta-analysis --- systematic reviews --- tacrolimus --- C/D-ratio --- pharmacokinetics --- opportunistic infection --- allograft survival --- urological complications --- ureteric stent --- urinary tract infection --- timing of removal --- living donor --- ethnicity --- age --- obesity --- genetic relationship donor/recipient --- atypical hemolytic uremic syndrome --- eculizumab --- glucose intolerance --- insulin secretion --- insulin resistance --- oral glucose tolerance test --- healthy subject --- hyperchloremia --- kidney graft dysfunction --- living donor kidney transplantation --- Uropathogenic E. coli --- UPEC --- phylogeny --- genomics --- antibiotic resistance --- virulence traits --- night-time renal transplantation --- graft survival --- patient survival/outcome --- surgical complications --- acute rejection --- lymphocyte --- CD45RC --- Belatacept --- cardiovascular high risk --- outcome --- machine perfusion --- organ preservation --- temperature --- hypothermic --- normothermic --- transplant --- proton-pump inhibitors --- iron --- iron deficiency --- polyomavirus --- BKV --- kidney --- glomerulus --- BKVAN --- nephropathy --- fluid management --- delayed graft function --- goal-directed fluid therapy --- calcineurin inhibitor nephrotoxcity --- C/D ratio --- tacrolimus metabolism --- ADPKD --- native nephrectomy --- patient outcome --- perioperative complications --- epidermal growth factor --- creatinine --- graft failure --- renal transplantation. --- new onset diabetes after renal transplantation --- single nucleotide polymorphisms --- urinary biomarkers --- α-GST --- π-GST --- nephrotoxicity --- urinary excretion of N1-methylnicotinamide --- mortality --- niacin status --- dietary intake --- tryptophan --- vitamin B3 --- Kidney transplant --- vitamin C --- cancer mortality --- oxidative stress. --- mycophenolic acid --- immunosuppression --- plasmapheresis --- oxalate --- hyperoxaluria --- kidney transplant recipients --- post-transplantation diabetes mellitus --- all-cause mortality --- cardiovascular mortality --- infectious mortality --- magnesium --- hypomagnesaemia --- cancer --- kidney transplant --- survival --- living kidney donation --- living-donor kidney transplantation --- beliefs --- inequity --- ischemia reperfusion injury --- innate immune system --- adaptive immune system --- apoptosis --- necrosis --- hypoxic inducible factor --- endothelial dysfunction --- proton pump inhibitor --- transplant rejection --- GFR --- insulin-like growth factor 1 --- growth hormone --- muscle mass --- patient survival --- physical activity --- renal transplant recipients --- kidney transplant (KT) --- donor-specific antibodies (DSA) --- C3d-binding assay --- antibody-mediated rejection (AMR) --- arsenic --- diet --- fish consumption --- post-transplant diabetes mellitus --- N1-methyl-2-pyridone-5-carboxamide --- N1-methylnicotinamide --- urinary excretion --- kidney function --- biomarker --- branched chain amino acids --- posttransplant diarrhea --- methanogenesis --- Methanosphaera stadtmanae --- mucins --- sulfate-reducing bacteria --- acute humoral rejection --- first-line therapy --- outcomes --- proteasome inhibitor --- renal transplant --- transplant recipients --- calcineurin inhibitors --- FK506 --- pharmacokinetic --- fast tacrolimus metabolizers --- malondialdehyde --- oxidative stress --- new-onset diabetes --- renal transplantation --- BK virus --- BK virus nephropathy --- kidney allograft --- transplantation --- Alport syndrome --- children --- autosomal dominant polycystic kidney disease --- epidemiology --- hospitalization --- kidney transplantation --- subarachnoid hemorrhage --- malignancy --- post-transplant malignancy --- renal cell carcinoma --- meta-analysis --- systematic reviews --- tacrolimus --- C/D-ratio --- pharmacokinetics --- opportunistic infection --- allograft survival --- urological complications --- ureteric stent --- urinary tract infection --- timing of removal --- living donor --- ethnicity --- age --- obesity --- genetic relationship donor/recipient --- atypical hemolytic uremic syndrome --- eculizumab --- glucose intolerance --- insulin secretion --- insulin resistance --- oral glucose tolerance test --- healthy subject --- hyperchloremia --- kidney graft dysfunction --- living donor kidney transplantation --- Uropathogenic E. coli --- UPEC --- phylogeny --- genomics --- antibiotic resistance --- virulence traits --- night-time renal transplantation --- graft survival --- patient survival/outcome --- surgical complications --- acute rejection --- lymphocyte --- CD45RC --- Belatacept --- cardiovascular high risk --- outcome --- machine perfusion --- organ preservation --- temperature --- hypothermic --- normothermic --- transplant --- proton-pump inhibitors --- iron --- iron deficiency --- polyomavirus --- BKV --- kidney --- glomerulus --- BKVAN --- nephropathy --- fluid management --- delayed graft function --- goal-directed fluid therapy --- calcineurin inhibitor nephrotoxcity --- C/D ratio --- tacrolimus metabolism --- ADPKD --- native nephrectomy --- patient outcome --- perioperative complications --- epidermal growth factor --- creatinine --- graft failure --- renal transplantation. --- new onset diabetes after renal transplantation --- single nucleotide polymorphisms --- urinary biomarkers --- α-GST --- π-GST --- nephrotoxicity --- urinary excretion of N1-methylnicotinamide --- mortality --- niacin status --- dietary intake --- tryptophan --- vitamin B3 --- Kidney transplant --- vitamin C --- cancer mortality --- oxidative stress. --- mycophenolic acid --- immunosuppression --- plasmapheresis --- oxalate --- hyperoxaluria --- kidney transplant recipients --- post-transplantation diabetes mellitus --- all-cause mortality --- cardiovascular mortality --- infectious mortality --- magnesium --- hypomagnesaemia --- cancer --- kidney transplant --- survival --- living kidney donation --- living-donor kidney transplantation --- beliefs --- inequity --- ischemia reperfusion injury --- innate immune system --- adaptive immune system --- apoptosis --- necrosis --- hypoxic inducible factor --- endothelial dysfunction --- proton pump inhibitor --- transplant rejection --- GFR --- insulin-like growth factor 1 --- growth hormone --- muscle mass --- patient survival --- physical activity --- renal transplant recipients --- kidney transplant (KT) --- donor-specific antibodies (DSA) --- C3d-binding assay --- antibody-mediated rejection (AMR) --- arsenic --- diet --- fish consumption --- post-transplant diabetes mellitus --- N1-methyl-2-pyridone-5-carboxamide --- N1-methylnicotinamide --- urinary excretion --- kidney function --- biomarker --- branched chain amino acids --- posttransplant diarrhea --- methanogenesis --- Methanosphaera stadtmanae --- mucins --- sulfate-reducing bacteria --- acute humoral rejection --- first-line therapy --- outcomes --- proteasome inhibitor --- renal transplant --- transplant recipients --- calcineurin inhibitors --- FK506 --- pharmacokinetic --- fast tacrolimus metabolizers