Results 71 to 80 of about 6,803 (205)

Autosomal Dominant Tubulointerstitial Kidney Disease Clinical Trial Simulator: Case Reports of Model‐Informed Drug Development

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 5, May 2026.
ABSTRACT Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is the third most common inherited monogenic kidney disorder. Mutations in UMOD and MUC1 account for most cases, with the disease characterized by progressive eGFR decline leading to kidney failure. No disease‐modifying therapies exist, and transplantation is the only current option.
Shyam S. Ramesh, Mark Rogge, Jongjin Kim, Sanghoon Kang, Kendrah Kidd, Adrienne Williams, Julie Roignot, Katherine Blakeslee, Anthony J. Bleyer, Sarah Kim   +9 more
wiley   +1 more source

A Case Series of Alport Syndrome with Posterior Lenticonus

Journal of Clinical and Diagnostic Research
Alport syndrome is a genetic disorder primarily affecting the kidneys, eyes, and ears, characterised by a classical triad of haematuria, anterior lenticonus, and sensorineural deafness.
Sumit Navneet Toshniwal, OK Radhakrishnan, Nikhil Toshniwal, Priyanka Aher, Deepaswi Bhavsar   +4 more
doaj   +1 more source

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo‐obstruction

Journal of Internal Medicine, Volume 299, Issue 5, Page 587-603, May 2026.
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora, Carolina Malagelada, Claudio Fiorini, Danara Ormanbekova, Alessandro Berghella, Roberto D'Angelo, Rita Rinaldi, Cristiana Caliceti, Anna Costanzini, Mirella Falconi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli, Roberto De Giorgio   +17 more
wiley   +1 more source

Bilateral Giant Full Thickness Macular Holes: An Infrequent Manifestation of Alport Syndrome

Journal of Ophthalmic & Vision Research, 2023
Purpose: To report a case of Alport syndrome presenting with bilateral giant full-thickness macular holes, hypertensive chorioretinopathy, and exudative retinal detachment.
Saeed Karimi, Niloofar Mohammad Bagheri Rafsanjani   +1 more
doaj   +1 more source

Alport Syndrome With Kidney Cysts Is Still Alport Syndrome [PDF]

Kidney International Reports, 2022
Savige, J, Mack, H, Thomas, R, Langsford, D, Pianta, T   +4 more
openaire   +4 more sources

Alport's syndrome. [PDF]

Journal of Medical Genetics, 1997
Alport's syndrome (AS) is a progressive glomerulonephritis which is associated with high tone sensorineural deafness and characteristic eye signs. It accounts for 0.6% of all patients who start renal replacement therapy in Europe, and is most commonly inherited as an X linked disorder with a gene frequency of 1 in 5000.
openaire   +2 more sources

Triptolide capsule enables proteinuria reduction and renal stabilization in advanced alport syndrome beyond standard therapy

Rheumatology &Autoimmunity, EarlyView.
Zhuo‐ran Song, Na Li, Yang Li, Hong Zhang, Xu‐jie Zhou   +4 more
wiley   +1 more source

Monocyte Chemokines Enhance Atherosclerotic Plaque Necrosis After Bacterial Kidney Infection

The FASEB Journal, Volume 40, Issue 7, 15 April 2026.
Cardiovascular event rates rise after acute infections. After a single pyelonephritis episode in Ldlr−/− mice, atherosclerotic plaque necrotic core size increased, mediated by chemokine receptor CCR2‐induced monocyte mobilization from the bone marrow.
Lena Possenriede, Peyman Falahat, Marie Foerster, Georg W. Sendtner, Julia Miranda, Leonie Richard‐Stropahl, Uta Scheidt, Christian Kurts, Florian Wagenlehner, Ekaterina K. Koltsova, Sibylle von Vietinghoff   +10 more
wiley   +1 more source

Pierson syndrome presenting as Alport syndrome: A case report

, 2023
We report a 3 year 10 month old girl with Pierson syndrome. Kidney biopsy showed features suggestive of Alport syndrome. Genetic study report showed LAMB2 mutation which are considered to (Nephrotic syndrome, type 5 with or without ocular abnormalities ...
Samina Masud Santa, Afroza Begum, Tahmina Akter Diba, Abdullah Al Mamun, Syed Saimul Haque   +4 more
core   +1 more source

miR‐135a‐5p Is a Promising Target to Prevent the Glomerulosclerosis Associated with Podocyte Developmental Toxicity in Offspring Induced by Prenatal Dexamethasone Exposure

Advanced Science, Volume 13, Issue 20, 9 April 2026.
Prenatal dexamethasone exposure (PDE) programs persistent podocyte developmental injury and adult glomerulosclerosis. Mechanistically, glucocorticoid receptor (GR) binds the miR‐135a‐5p promoter and recruits the histone acetyltransferase p300, increasing promoter histone acetylation and sustaining miR‐135a‐5p expression. Elevated miR‐135a‐5p suppresses
Xiaoqi Zhao, Haiyun Chen, Yanan Zhu, Zhiping Xia, Hangyuan He, Yutang Liu, Tianshu Yang, Hui Wang, Ying Ao   +8 more
wiley   +1 more source