Results 81 to 90 of about 6,803 (205)

Digenic Alport Syndrome in Children: A Systematic Review of Case Reports and Case Series

Indian Pediatrics Case Reports
Background: Alport syndrome comprises inherited heterogeneous disorders involving kidneys with varying combinations of ocular pathologies and hearing loss. Digenic Alport syndrome is a pathologic variant of Alport syndrome in which there is a mutation in
Rashida Ali, Vindhya Solanki, P. Athira, Girish Chandra Bhatt   +3 more
doaj   +1 more source

Analysis of Correlated Image Features Using Scalar‐On‐Matrix Regression

Statistical Analysis and Data Mining: An ASA Data Science Journal, Volume 19, Issue 2, April 2026.
ABSTRACT Image features from digital kidney biopsies may serve as novel biomarkers of kidney function in glomerular disease. Every subject's biopsy contains a different number of histologic objects, and for every object, a common set of image features is measured across all subjects.
Jeremy Rubin, Fan Fan, Laura Barisoni, Andrew R. Janowczyk, Jarcy Zee   +4 more
wiley   +1 more source

Opportunities for renal genetic evaluation among pregnant patients with kidney disease

Pregnancy, Volume 2, Issue 2, March 2026.
Abstract Objective Chronic kidney disease (CKD) can significantly affect pregnancy management and outcomes. Although up to 40% of adults with renal disease have an identifiable genetic cause, most pregnant patients with CKD do not undergo genetic testing, hindering tailored management during and after pregnancy. We assessed which pregnant patients with
Likhita Nandigam, Christian M. Parobek, Taylor Moseley, Ansley E. Davis, Stacie G. Denning, Mir Reza, Sai K. Saridey, Hennie A. Lombaard   +7 more
wiley   +1 more source

WNK1 Kinase Activity Is Required for the Functional Maintenance of Podocyte Structure

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
The acute effects of WNK1 kinase inhibition on podocyte structure and function were determined at the level of: 1) renal function, by measurements of urinary protein and imaging of glomerular synaptopodin, 2) podocyte cell, by measurements and localization of actomyosin proteins and their regulators, and 3) focal adhesions at cell membrane extensions ...
Zhenan Liu, Eunyoung Lee, Shumeng Jiang, Joonho Yoon, Fouzia Ahmed, Mohammad A. Rahman, Philip Bleicher, Hani Y. Suleiman, Leslie A. Bruggeman, R. Tyler Miller, Audrey N. Chang   +10 more
wiley   +1 more source

Keratoconus in a patient with Alport syndrome: A case report

, 2019
BACKGROUND Known ocular manifestations of Alport syndrome include features such as anterior lenticonus and fleck retinopathy. Reports of keratoconus in such patients are limited.
Buckner, Benjamin, Skanchy, David F., Moshirfar, Majid, Ronquillo, Yasmyne C., Hoopes, Phillip C., Gomez, Aaron T.   +5 more
core   +1 more source

Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips

Advanced Biology, Volume 10, Issue 2, February 2026.
Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck, Jeroen Bugter, Gizem Yorukoglu, Mina Kazemzadeh Dastjerd, Thomas E. Winkler   +4 more
wiley   +1 more source

Molecular genetics of Alport syndrome

, 1993
Molecular genetics of Alport syndrome. Alport syndrome is a progressive hereditary kidney disease characterized by hematuria, sensorineural hearing loss and ocular lesions with structural defects in the glomerular basement membrane (GBM).
Hostikka, Sirkka Liisa, Zhou, Jing, Shows, Thomas B., Tryggvason, Karl   +3 more
core   +1 more source

Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome

, 2020
Most adults with Alport syndrome (AS) suffer from progressive sensorineural hearing loss. However, little is known about the early characteristics of hearing loss in children with AS. As a part of the EARLY PRO-TECT Alport trial, this study was the first
on behalf of the GPN Study Group, Celine Storz, Oliver Gross, Jan Boeckhaus, Nicola Strenzke, EARLY PRO-TECT Alport Investigators   +5 more
core   +1 more source

The role of cyclooxygenase-2 (COX-2) and inflammatory markers in the progress of Alport syndrome in Egyptian children

BMC Pediatrics
Background Chronic inflammation and its control are crucial to the responses of glomerular and renal tubular cells. This contributes to the pathogenic mechanisms and advancement of the disease in Alport syndrome.
Moushira Zaki, Hisham A. Orban, Mohamed A. Shahba, Rehab S. I. Moustafa, Ahmed Adel, Fatina I. Fadel, Abeer Selim, Hala T. El-Bassyouni, Eman R. Youness   +8 more
doaj   +1 more source

Complete Atrioventricular Block in a Young Patient With Alport Syndrome: A Case Report

Annals of Internal Medicine: Clinical Cases
Complete atrioventricular block (AVB) has not been previously reported in patients with Alport syndrome with normal kidney function. We describe a rare case of a young man with Alport syndrome who developed complete AVB.
Zuoyi Zhou, Long Zhang, Qinhui Sheng, Yanjun Gong, Jianping Li   +4 more
doaj   +1 more source