Results 61 to 70 of about 6,803 (205)
Case Reports in Ophthalmology, 2023 We present a case of unilateral full-thickness macular hole (MH) successfully repaired with an amniotic membrane (AM) graft in a patient with Alport syndrome.
Sayena Jabbehdari +3 more
doaj +1 more source
Journal of Extracellular Vesicles, Volume 15, Issue 5, May 2026.This systematic review compiles and analyses 364 studies on chronic kidney disease (CKD) that investigated extracellular vesicles (EVs) for diagnostic and therapeutic applications. By systematically categorizing data according to EV source and cargo, it provides an integrated overview of EV application for CKD, highlighting common approaches and shared
Tunahan Ergunay +2 more
wiley +1 more source
Diagnosing Alport Syndrome: Lessons from the Pediatric Ward
, 2018 Background: Alport syndrome is a rare inheritable kidney disease frequently leading to end-stage kidney disease in young adults. Patients could benefit from early recognition of the disease.
Cransberg, Karlien +8 more
core +1 more source
Multidisciplinary Management of Alport Syndrome: Current Perspectives
Journal of Multidisciplinary Healthcare, 2021 Clifford Kashtan Department of Pediatrics, Division of Pediatric Nephrology, University of Minnesota Medical School, Minneapolis, MN, 55454, USACorrespondence: Clifford Kashtan Email kasht001@umn.eduAbstract: Alport syndrome is a multisystem disorder ...
Kashtan C
doaj
En face optical coherence tomography findings in a case of Alport syndrome
Indian Journal of Ophthalmology, 2017 Alport syndrome is a rare hereditary disease that is associated with retinal abnormalities such as dot-and-fleck retinopathy and temporal macular thinning.
In Hwan Cho +3 more
doaj +1 more source
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 +7 more
wiley +1 more source
Alport Syndrome in Women and Girls
, 2016 Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Inheritance is X-linked (85%) or autosomal recessive (15%).
Deb Colville +15 more
core +1 more source
A rare cause of nephrotic syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Classical Alport syndrome is a rare X-linked disease of males (85%) presenting early with hematuria, ocular, and hearing defects. Proteinuria and renal failure are less common in the early stages. Here, we report the case of a young female with nephrotic
Remi George Thomas +4 more
doaj +1 more source
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 +5 more
wiley +1 more source
Creation of X-linked Alport syndrome rat model with Col4a5 deficiency
Scientific Reports, 2021 Alport syndrome is an inherited chronic human kidney disease, characterized by glomerular basement membrane abnormalities. This disease is caused by mutations in COL4A3, COL4A4, or COL4A5 gene.
Masumi Namba +6 more
doaj +1 more source