Judith Savige

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.

Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, et al.

Journal article  |  2023  |  Front Med (Lausanne)

INTRODUCTION: Romani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants ..

KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV alpha 3 and alpha 4 chains

Dongmao Wang, Paul Trevillian, Stephen May, Peter Diakumis, Yanyan Wang, Deb Colville, Melanie Bahlo, Una Greferath, Erica Fletcher, Barbara Young, Heather G Mack, Judy Savige

Journal article  |  2022  |  OPHTHALMIC GENETICS

INTRODUCTION: Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1 variants and characterised by a scalp defect, prominent ears..

Hereditary Nephritis in Children

Judy Savige

Book Chapter  |  2022

Type IV Collagen Nephropathies: Alport Syndrome and Beyond

Dorin-Bogdan Borza, Oliver Gross, Dale Abrahamson, Judy Savige

Book  |  2022

Digenic Alport Syndrome.

Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, Hansjorg Rothe, Daniel P Gale, Marina Aksenova, Agne Cerkauskaite, Olga Bielska, Beata Lipska-Zietkiewicz, Joel T Gibson

Journal article  |  2022  |  Clin J Am Soc Nephrol

Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4 ..

A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome.

Joel T Gibson, Mikayla de Gooyer, Mary Huang, Judy Savige

Journal article  |  2022  |  Kidney Int Rep

INTRODUCTION: Women and girls with X-linked Alport syndrome have a risk of disease progression that is difficult to predict. This ..

Increased retinal drusen in IgA glomerulonephritis are further evidence for complement activation in disease pathogenesis.

P Harraka, Tony Wightman, Sarah Akom, Kieran Sandhu, Deb Colville, Andrew Catran, David Langsford, Timothy Pianta, David Barit, Frank Ierino, Alison Skene, Heather Mack, Judy Savige

Journal article  |  2022  |  Sci Rep

Drusen are retinal deposits comprising cell debris, immune material and complement that are characteristic of macular degeneration..

Heterozygous Pathogenic COL4A3 and COL4A4 Variants (Autosomal Dominant Alport Syndrome) Are Common, and Not Typically Associated With End-Stage Kidney Failure, Hearing Loss, or Ocular Abnormalities.

Judy Savige

Journal article  |  2022  |  Kidney Int Rep

The term "autosomal dominant (AD) Alport syndrome" is often used to describe the condition associated with heterozygous pathogenic..

Obstructive sleep apnea, chronic obstructive pulmonary disease and hypertensive microvascular disease: a cross-sectional observational cohort study.

Sky Chew, Deb Colville, Anastasia Hutchinson, Piers Canty, Lauren Hodgson, Judy Savige

Journal article  |  2022  |  Sci Rep

Hypertensive microvascular disease is associated with an increased risk of diastolic heart failure, vascular dementia and progress..

Retinal small vessel dilatation in the systemic inflammatory response to surgery.

Alexander Grogan, Karen Barclay, Deb Colville, Lauren Hodgson, Judy Savige

Journal article  |  2022  |  Sci Rep

Retinal microvascular calibre has been proposed as a predictor of cardiac events. Surgery is a major stimulus for inflammation whi..