[HTML][HTML] Focal segmental glomerulosclerosis

AZ Rosenberg, JB Kopp - Clinical Journal of the American Society …, 2017 - journals.lww.com
Focal segmental glomerulosclerosis (FSGS) is a leading cause of kidney disease
worldwide. The presumed etiology of primary FSGS is a plasma factor with responsiveness …

Differentiating primary, genetic, and secondary FSGS in adults: a clinicopathologic approach

AS De Vriese, S Sethi, KA Nath… - Journal of the …, 2018 - journals.lww.com
FSGS describes a renal histologic lesion with diverse causes and pathogenicities that are
linked by podocyte injury and depletion. Subclasses of FSGS include primary, genetic, and …

[HTML][HTML] KDIGO clinical practice guideline on the evaluation and care of living kidney donors

KL Lentine, BL Kasiske, AS Levey, PL Adams… - …, 2017 - journals.lww.com
Abstract The 2017 Kidney Disease: Improving Global Outcomes (KDIGO) Clinical Practice
Guideline on the Evaluation and Care of Living Kidney Donors is intended to assist medical …

[HTML][HTML] Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group

CE Kashtan, J Ding, G Garosi, L Heidet, L Massella… - Kidney international, 2018 - Elsevier
Mutations in the genes COL4A3, COL4A4, and COL4A5 affect the synthesis, assembly,
deposition, or function of the collagen IV α345 molecule, the major collagenous constituent …

Guidelines for genetic testing and management of Alport syndrome

J Savige, BS Lipska-Zietkiewicz, E Watson… - Clinical Journal of the …, 2022 - journals.lww.com
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the
cause of persistent hematuria, especially with a family history of hematuria or kidney function …

Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020

CE Kashtan, O Gross - Pediatric Nephrology, 2021 - Springer
In 2013, we published a set of clinical practice recommendations for the treatment of Alport
syndrome in this journal. We recommended delaying the initiation of angiotensin-converting …

Primary glomerulonephritides

J Floege, K Amann - The Lancet, 2016 - thelancet.com
Most glomerulonephritides, even the more common types, are rare diseases. They are
nevertheless important since they frequently affect young people, often cannot be cured, and …

[HTML][HTML] Therapeutic trials in adult FSGS: lessons learned and the road forward

AS De Vriese, JF Wetzels, RJ Glassock… - Nature reviews …, 2021 - nature.com
Focal segmental glomerulosclerosis (FSGS) is not a specific disease entity but a lesion that
primarily targets the podocyte. In a broad sense, the causes of the lesion can be divided into …

[HTML][HTML] Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

J Savige, H Storey, E Watson, JM Hertz… - European journal of …, 2021 - nature.com
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Whole-exome sequencing in adults with chronic kidney disease: a pilot study

S Lata, M Marasa, Y Li, DA Fasel… - Annals of internal …, 2018 - acpjournals.org
Background: The utility of whole-exome sequencing (WES) for the diagnosis and
management of adult-onset constitutional disorders has not been adequately studied …