[HTML][HTML] Monogenic Kidney Diseases in Kidney Transplantation

V Gillion, A Devresse, E Olinger, G Dahlqvist… - Kidney International …, 2023 - Elsevier
Monogenic kidney diseases are involved in up to 15% of end-stage kidney diseases in
adults, and in 70% of pediatric patients. When these disorders lead to kidney failure, kidney …

Genetic testing in nephrotic syndrome—challenges and opportunities

RA Gbadegesin, MP Winn, WE Smoyer - Nature Reviews Nephrology, 2013 - nature.com
Monogenic nephrotic syndrome (nephrotic syndrome caused by a single gene defect) is
responsible for only a small percentage of cases of nephrotic syndrome, but information from …

[HTML][HTML] The evolving role of diagnostic genomics in kidney transplantation

J Soraru, A Chakera, N Isbel… - Kidney International …, 2022 - Elsevier
Monogenic forms of heritable kidney disease account for a significant proportion of chronic
kidney disease (CKD) across both pediatric and adult patient populations and up to 11% of …

Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports

R Torra, M Furlano, A Ortiz, E Ars - Clinical kidney journal, 2021 - academic.oup.com
Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic
kidney disease (CKD) and are responsible for at least 10–15% of cases of kidney …

Nephrotic disorders

H Jalanko, H Kääriäinen - Emery and Rimoin's Principles and Practice of …, 2023 - Elsevier
Nephrotic syndrome (NS) defines a clinical entity of proteinuria, hypoproteinemia, and
edema. Proteinuria is caused by an acquired or genetic defect in the glomerular filtration …

Clinical applications of genetic discoveries in kidney transplantation: a review

EP Marin, E Cohen, N Dahl - Kidney360, 2020 - journals.lww.com
Growth in knowledge of the genetics of kidney disease has revealed that significant
percentages of patients with diverse types of nephropathy have causative mutations …

Multidisciplinary and multidimensional approaches to transplantation in children with rare genetic kidney diseases

RP George, PD Winterberg, R Garro - Pediatric Transplantation, 2023 - Wiley Online Library
In this review, we describe the multidisciplinary, multidimensional care required to optimize
outcomes for pediatric transplant recipients with rare genetic kidney diseases. Transplant …

Evaluation of genetic kidney disease in living donor candidates

CP Thomas, J Divers - Living Kidney Donation: Best Practices in …, 2021 - Springer
Living donor transplantation is the preferred treatment for end-stage kidney disease (ESKD).
While living donor transplantation generally substantially enhances the quality of life and …

Genetics-first approach improves diagnostics of ESKD patients< 50 years old

R Snoek, RH van Jaarsveld, TQ Nguyen… - Nephrology Dialysis …, 2022 - academic.oup.com
Background Often only chronic kidney disease (CKD) patients with high likelihood of genetic
disease are offered genetic testing. Early genetic testing could obviate the need for kidney …

[HTML][HTML] Evaluation of genetic renal diseases in potential living kidney donors

S Kuppachi, RJH Smith, CP Thomas - Current transplantation reports, 2015 - Springer
Better outcomes for living donor transplantation, together with the shortened waiting time
and the increasing gap between supply and demand for kidneys for transplantation, has led …