Results 101 to 110 of about 23,214 (166)

Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis

Orphanet Journal of Rare Diseases, 2012
Background Pathologic studies play an important role in evaluating patients with Alport syndrome besides genotyping. Difficulties still exist in diagnosing Alport syndrome (AS), and misdiagnosis is a not-so-rare event, even in adult patient evaluated ...
Yao Xiao-dan, Chen Xin, Huang Gao-yuan, Yu Yan-ting, Xu Shu-tian, Hu Yang-lin, Wang Qing-wen, Chen Hui-ping, Zeng Cai-hong, Ji Da-xi, Hu Wei-xin, Tang Zheng, Liu Zhi-hong   +12 more
doaj   +1 more source

Alport syndrome: a genetically confirmed x-linked case with early family screening. [PDF]

Batna Journal of Medical Sciences
Introduction: Alport syndrome (AS) is a hereditary nephropathy caused by pathogenic variants in the type IV collagen genes (COL4A3, COL4A4, or COL4A5), leading to structural defects in the glomerular basement membrane, cochlea, and eye.
Sonia Yasmine KIRANE, Lahlou HADDAD, Wassila MESSADI, Amina SARI, Ourida GACEM   +4 more
doaj   +1 more source

ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease!

BMC Nephrology, 2017
Background Alport syndrome and ANCA-associated vasculitis are both rare diseases. The co-existence of these two conditions has never been reported. There is no obvious pathogenic link between these two glomerular diseases.
Valentine Gillion, Michel Jadoul, Selda Aydin, Nathalie Godefroid   +3 more
doaj   +1 more source

A rare case of dual glomerular pathology: Alport syndrome and immune complex-mediated MPGN

BMC Nephrology
Background Immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) and Alport syndrome are distinct glomerular diseases with different pathophysiologic mechanisms.
Seyda Gul Ozcan, Eylul Koc, Ahmet Murt, Mevlut Tamer Dincer, Iclal Gurses, Nurhan Seyahi, Sinan Trabulus   +6 more
doaj   +1 more source

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.

PLoS ONE
Alport syndrome is caused by variants in COL4A3, COL4A4, or COL4A5, which encode the α3α4α5 chains of type IV collagen. These variants result in defects in the glomerular basement membrane (GBM) and impaired kidney function.
Kohei Omachi, Joseph J Porter, John D Lueck, Jeffrey H Miner   +3 more
doaj   +1 more source

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Journal of the American Society of Nephrology, 2003
J. Jais, B. Knebelmann, I. Giatras, M. de Marchi, G. Rizzoni, A. Renieri, Manfred Weber, O. Gross, K. Netzer, F. Flinter, Y. Pirson, K. Dahan, J. Wieslander, U. Persson, K. Tryggvason, Paula Martin, J. Hertz, C. Schröder, M. Sanak, M. Carvalho, J. Saus, C. Antignac, H. Smeets, M. Gubler   +23 more
semanticscholar   +1 more source

Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism. [PDF]

Chin Med J (Engl), 2023
Zhong L, Li Y, He X, Dey SK, Zhang Q, Banerjee S.   +5 more
europepmc   +1 more source

Poster Session 1

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

Audiological manifestations in alport syndrome: a rare atypical case report

The Egyptian Journal of Otolaryngology
Background Alport syndrome is a hereditary disorder characterized by progressive renal dysfunction, ocular abnormalities, and bilateral sensorineural hearing loss, typically associated with mutations in type IV collagen genes. This report presents a rare
Mukesh Sharma, Rajeshvariba Jadeja, Santosh Kumar   +2 more
doaj   +1 more source

Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis.

Journal of Clinical Investigation, 1997
R. Kalluri, C. Shield, P. Todd, B. Hudson, E. Neilson   +4 more
semanticscholar   +1 more source