Results 61 to 70 of about 12,421 (264)

Nova Abordagem ao Diagnóstico da Sindroma de Alport: Pesquisa da Cadeia α5 do Colagénio Tipo IV na Pele [PDF]

, 2005
Em 2000, os autores iniciaram no Serviço de Nefrologia do Hospital de Curry Cabral, um protocolo de avaliação do papel do estudo imunopatológico da biópsia cutânea no diagnóstico da Sindroma de Alport (SA). A SA é uma doença hereditária, secundária
Carvalho, F, Galvão, MJ, Teixeira e Costa, F   +2 more
core  

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  

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, R P Senthilkumar, Balaraman Velayudham, C Vasudevan, Thirumalvalavan Murugesan   +4 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

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

, 2016
Background: Deletions in the Xq22.3–Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (
Andreoletti, Gaia, Dewing, Jennifer M., Ennis, Sarah, Gilbert, Rodney D., Lachlan, Katherine, O'kelly, Ita, Seaby, Eleanor G.   +6 more
core   +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, Tomoe Kobayashi, Mayumi Kohno, Takayuki Koyano, Takuo Hirose, Masaki Fukushima, Makoto Matsuyama   +6 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

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

#6036 CYSTIC KIDNEY PHENOTYPE IS A FREQUENT, AGE- AND EGFR- DEPENDENT FINDING IN ALPORT SYNDROME [PDF]

, 2023
Letizia Zeni, Federica Mescia, Diego Toso, Cinzia Mazza, Chiara Dordoni, Laura Econimo, R Cortinovis, Federico Alberici, Francesco Scolari, Claudia Izzi   +9 more
openalex   +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