Results 11 to 20 of about 23,214 (166)

Bullous Pemphigoid in X-linked Alport Syndrome. [PDF]

Intern Med, 2023
Skin lesions in X-linked Alport syndrome (XLAS) are rarely observed. Bullous pemphigoid (BP) is caused by autoantibodies against BP180, also called α1 (XVII) chain, in the basement membrane zone (BMZ). A 48-year-old man with XLAS developed tense blisters.
Yamawaki M, Katayama K, Fujimoto M, Goto H, Yuasa H, Kozuka Y, Mori M, Takahashi D, Saiki R, Hirabayashi Y, Murata T, Yamanaka K, Dohi K.   +12 more
europepmc   +4 more sources

A wave of deep intronic mutations in X-linked Alport syndrome

Kidney International, 2023
X-linked Alport syndrome (XLAS) is an inherited kidney disease caused exclusively by pathogenic variants in the COL4A5 gene. In 10-20% of cases, DNA sequencing of COL4A5 exons or flanking regions cannot identify molecular causes.
Hassane Izzedine, Vincent Morinière, Aurélie Hummel   +2 more
exaly   +4 more sources

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report [PDF]

SAGE Open Medical Case Reports
Alport syndrome is a genetic disorder of chronic kidney disease, hearing loss, and ocular abnormalities, caused by mutations in type IV collagen. While X-linked Alport Syndrome demonstrates characteristic severe renal failure in males, it has a variable ...
Caroline Gee, Matthew D. Nguyen, Dao Le, Ramy Hanna   +3 more
doaj   +4 more sources

A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome. [PDF]

Kidney Int Rep, 2022
Introduction Women and girls with X-linked Alport syndrome have a risk of disease progression that is difficult to predict. This systematic review examined whether proteinuria correlated with genotype and disease severity in this population.
Gibson JT, de Gooyer M, Huang M, Savige J.   +3 more
europepmc   +2 more sources

Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea. [PDF]

Sci Rep, 2023
The genotype–phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype–phenotype correlation in 216 Korean ...
Kim JH, Lim SH, Song JY, Cho MH, Hyun H, Yang EM, Lee JW, Cho MH, Park MJ, Lee JH, Jung J, Yoo KH, Jang KM, Pai KS, Suh JS, Namgoong MK, Chung WY, Kim SJ, Cho EY, Kim KM, Kim NH, Kim M, Paik JH, Kang HG, Ahn YH, Cheong HI.   +25 more
europepmc   +2 more sources

High-flow arteriovenous fistula in X-linked Alport syndrome: a case report [PDF]

Frontiers in Medicine, 2023
Most male X-linked Alport syndrome patients with COL4A5 nonsense mutations experience end-stage kidney failure by 30 years old. Although there is no definition of high-flow arteriovenous fistula, access blood flows greater than 2000 mL/min might predict ...
Daisuke Takahashi, Kan Katayama, Yoshinobu Iyoda, Ayumi Fukumori, Kayo Tsujimoto, Masahiro Yamawaki, Fumika Tanaka, Ryosuke Saiki, Keiko Oda, Yasuo Suzuki, Tomohiro Murata, Yoshinaga Okugawa, Kaoru Dohi   +12 more
doaj   +2 more sources

A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome. [PDF]

Front Pediatr, 2022
Background X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.The aim of this study was to identify gene mutations in a Chinese family with
Qian P, Bao Y, Huang HM, Suo L, Han Y, Li ZJ, Zhang M.   +6 more
europepmc   +2 more sources

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome

Kidney International, 2020
Early kidney failure in the hereditary type IV collagen disease, Alport syndrome, can be delayed by renin-angiotensin inhibitors. However, whether all patients and all different genotypes respond equally well to this kidney-protective therapy remains ...
Tomohiko Yamamura, Koichi Nakanishi, Kandai Nozu   +2 more
exaly   +2 more sources

A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene. [PDF]

Front Med (Lausanne), 2023
Alport syndrome (AS) is an inherited glomerular basement membrane (GBM) disease leading to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by pathogenic variants in the COL4A5 gene. Many pathogenic variants causing AS have been detected, but
Wu WQ, Zhang JX, Cui YX, Zhang MC, Chen XH, Duan S, Zeng CH, Li PN, Li XJ.   +8 more
europepmc   +2 more sources

Tractional Retinoschisis: A Subtle and Rare Manifestation of X-Linked Alport Syndrome – A Case Report [PDF]

Case Reports in Ophthalmology
Introduction: Alport syndrome is a genetic condition characterized by chronic kidney disease, hearing loss, and a wide range of ophthalmological alterations.
Diogo Valente Fortunato, João Vasco Garrido, João Mendes   +2 more
doaj   +2 more sources