The 2019 and 2021 international workshops on Alport syndrome

S Daga, J Ding, C Deltas, J Savige… - European journal of …, 2022 - nature.com
In 1927 Arthur Cecil Alport, a South African physician, described a British family with an
inherited form of kidney disease that affected males more severely than females and was …

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome

O Gross, CE Kashtan, MN Rheault… - Nephrology Dialysis …, 2017 - academic.oup.com
Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy
variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the …

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

BD Webb, T Brandt, L Liu, C Jalas, J Liao… - Clinical …, 2014 - Wiley Online Library
Alport syndrome is an inherited progressive nephropathy arising from mutations in the type
IV collagen genes, COL4A3, COL4A4, and COL4A5. Symptoms also include sensorineural …

Molecular basis, diagnostic challenges and therapeutic approaches of alport syndrome: a primer for clinicians

R Martínez-Pulleiro, M García-Murias… - International journal of …, 2021 - mdpi.com
Alport syndrome is a genetic and hereditary disease, caused by mutations in the type IV
collagen genes COL4A3, COL4A4 and COL4A5, that affects the glomerular basement …

[HTML][HTML] A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia

C Arrondel, G Deschênes, Y Le Meur, A Viau… - Kidney International, 2004 - Elsevier
A large tandem duplication within the COL4A5 gene is responsible for the high prevalence
of Alport syndrome in French Polynesia. Background The prevalence of X-linked Alport …

[HTML][HTML] Alport syndrome: clinical spectrum and therapeutic advances

V De Gregorio, EB Caparali, A Shojaei, S Ricardo… - Kidney Medicine, 2023 - Elsevier
Alport syndrome is a hereditary disorder characterized by kidney disease, ocular
abnormalities, and sensorineural hearing loss. Work in understanding the cause of Alport …

[HTML][HTML] The 2014 international workshop on Alport syndrome

JH Miner, C Baigent, F Flinter, O Gross, P Judge… - Kidney international, 2014 - Elsevier
Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural
deafness and anterior lenticonus, is a genetic disease of collagen α3α4α5 (IV) resulting in …

Meta‐analysis of genotype–phenotype correlation in X‐linked Alport syndrome: impact on clinical counselling

O Gross, KO Netzer, R Lambrecht… - Nephrology Dialysis …, 2002 - academic.oup.com
Background. Alport syndrome (AS) is a hereditary nephropathy characterized by progressive
renal failure, hearing loss and ocular lesions. Numerous mutations of the COL4A5 gene …

Alport syndrome: achieving early diagnosis and treatment

CE Kashtan - American Journal of Kidney Diseases, 2021 - Elsevier
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular,
cochlear, and ocular basement membranes resulting from mutations in the collagen IV …

Alport syndrome: from bedside to genome to bedside

CE Kashtan, AF Michael - American journal of kidney diseases, 1993 - Elsevier
Alport syndrome is a genetic disorder of basement membranes manifested clinically by a
progressive nephropathy and, in many families, sensorineural hearing loss and ocular …