Podocytopathies

JB Kopp, HJ Anders, K Susztak, MA Podestà… - Nature Reviews …, 2020 - nature.com
Podocytopathies are kidney diseases in which direct or indirect podocyte injury drives
proteinuria or nephrotic syndrome. In children and young adults, genetic variants in> 50 …

A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT)

V Murugapoopathy, IR Gupta - … Journal of the American society of …, 2020 - journals.lww.com
Congenital anomalies of the kidneys and urinary tracts (CAKUT) are disorders caused by
defects in the development of the kidneys and their outflow tracts. The formation of the …

Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome

J Gibson, R Fieldhouse, MMY Chan… - Journal of the …, 2021 - journals.lww.com
Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …

[HTML][HTML] Monogenic causes of chronic kidney disease in adults

DM Connaughton, C Kennedy, S Shril, N Mann… - Kidney international, 2019 - Elsevier
Approximately 500 monogenic causes of chronic kidney disease (CKD) have been
identified, mainly in pediatric populations. The frequency of monogenic causes among …

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

N Knoers, C Antignac, C Bergmann… - Nephrology Dialysis …, 2022 - academic.oup.com
The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

[HTML][HTML] Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) controversies conference

A Köttgen, E Cornec-Le Gall, J Halbritter, K Kiryluk… - Kidney international, 2022 - Elsevier
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as
well as genes for complex kidney diseases that manifest in combination with environmental …

[HTML][HTML] Genome-wide screening in human kidney organoids identifies developmental and disease-related aspects of nephrogenesis

R Ungricht, L Guibbal, MC Lasbennes, V Orsini… - Cell Stem Cell, 2022 - cell.com
Human organoids allow the study of proliferation, lineage specification, and 3D tissue
development. Here we present a genome-wide CRISPR screen in induced pluripotent stem …

The genetics and pathogenesis of CAKUT

CM Kolvenbach, S Shril, F Hildebrandt - Nature Reviews Nephrology, 2023 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of
malformations that arise from defective kidney or urinary tract development and frequently …

Spotlight on genetic kidney diseases: A call for drug delivery and nanomedicine solutions

N Trac, A Ashraf, J Giblin, S Prakash, S Mitragotri… - ACS …, 2023 - ACS Publications
Nanoparticles as drug delivery carriers have benefited diseases, including cancer, since the
1990s, and more recently, their promise to quickly and efficiently be mobilized to fight …

Whole-exome sequencing enables a precision medicine approach for kidney transplant recipients

N Mann, DA Braun, K Amann, W Tan… - Journal of the …, 2019 - journals.lww.com
Background Whole-exome sequencing (WES) finds a CKD-related mutation in
approximately 20% of patients presenting with CKD before 25 years of age. Although …