Pathogenic variants in the genes affected in Alport syndrome (COL4A3–COL4A5) and their association with other kidney conditions: a review

J Savige, P Harraka - American Journal of Kidney Diseases, 2021 - Elsevier
Massively parallel sequencing identifies pathogenic variants in the genes affected in Alport
syndrome (COL4A3–COL4A5) in as many as 30% of individuals with focal and segmental …

IgA nephropathy in children and in adults: two separate entities or the same disease?

R Coppo, T Robert - Journal of Nephrology, 2020 - Springer
IgA nephropathy (IgAN) is observed in subjects of any age, however perspective and
management of this disease are different between adult and pediatrician Nephrologists …

[HTML][HTML] The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

EAE Elhassan, SL Murray, DM Connaughton… - Journal of …, 2022 - Springer
Methods In this prospective cohort study, we undertook genetic testing in adults with
suspected GKD according to prespecified criteria. Over 7 years, patients were referred from …

[HTML][HTML] An Update on the Genetics of IgA Nephropathy

LL Xu, XJ Zhou, H Zhang - Journal of Clinical Medicine, 2023 - mdpi.com
Immunoglobulin A (IgA) nephropathy (IgAN), the most common form of glomerulonephritis, is
one of the leading causes of end-stage kidney disease (ESKD). It is widely believed that …

[HTML][HTML] Positive renal familial history in IgA nephropathy is associated with worse renal outcomes: a single-center longitudinal study

Y Sato, H Tsukaguchi, K Higasa, N Kawata, K Inui… - BMC nephrology, 2021 - Springer
Abstract Background IgA nephropathy (IgAN) is the most common primary
glomerulonephritis worldwide. Although most IgAN cases are sporadic, few show a familial …

Integration of genetic and histopathology data in interpretation of kidney disease

SL Murray, NK Fennelly, B Doyle… - Nephrology Dialysis …, 2020 - academic.oup.com
For many years renal biopsy has been the gold standard for diagnosis in many forms of
kidney disease. It provides rapid, accurate and clinically useful information in most …

[HTML][HTML] New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations …

JM García-Aznar, L De la Higuera… - Journal of Clinical …, 2022 - mdpi.com
Alport syndrome (AS) is a clinically and genetically heterogeneous disorder with a wide
phenotypic spectrum, onset, and progression. X-linked AS (XLAS) and autosomal recessive …

[HTML][HTML] Tale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case report

A Bhattacharyya, Y Huang, SH Khan, CB Drachenberg… - BMC nephrology, 2021 - Springer
Abstract Background Alport Syndrome and IgA Nephropathy (IgAN) are both disorders that
can cause hematuria. Alport syndrome is most commonly an X-linked disease, caused by …

Collagen IV and Podocyte-Related Gene Variants in Patients with Concurrent IgA Nephropathy and Thin Basement Membrane Nephropathy

H Xu, XW Yu, Y Li, ZH Huang, L Zhang, QQ Min, JX Bi… - Nephron, 2023 - karger.com
Introduction: IgA nephropathy is the most common primary glomerulonephritis among adults
in clinic. Thin basement membrane nephropathy is often underestimated or even omitted if it …

[HTML][HTML] Case Report: A Pathogenic Missense Variant of WT1 Cosegregates With Proteinuria in a Six-Generation Chinese Family With IgA Nephropathy

Q Li, L Zhu, S Shi, D Xu, J Lv, H Zhang - Frontiers in Medicine, 2022 - frontiersin.org
Immunoglobulin A (IgA) nephropathy (IgAN) is the most common type of primary
glomerulonephritis worldwide. In addition to hematuria, proteinuria is observed in a …