Results 61 to 70 of about 5,335 (170)

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

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

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 636-642, May 2026.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome

Case Reports in Ophthalmology, 2020
Alport syndrome is associated with various ocular phenotypic features, including several retinal manifestations. The purpose of this case report was to describe a case of multiple vitelliform lesions in Alport syndrome.
Kathrine O. Eriksen, Øystein Kalsnes Jørstad   +1 more
doaj   +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

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

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

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

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

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