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Kidney Medicine, 2019 Alport syndrome is a hereditary glomerular nephritis associated with hearing loss and eye abnormalities and is classified as X-linked Alport syndrome, autosomal recessive Alport syndrome, and autosomal dominant Alport syndrome.
Taro Akihisa +12 more
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Localization of the gene for X-linked Alport's syndrome
Kidney International, 1988 X-chromosomal DNA probes defining various polymorphic DNA markers were used to study genetic linkage in three families with Alport's syndrome. With the DXS17 marker, only a single cross-over was observed in 26 informative meioses, and evidence for linkage was also obtained with the DXS11 marker.
Brunner, Han +9 more
openaire +2 more sources
Scientific Reports, 2022 Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the COL4A3–COL4A5 genes that cause Alport syndrome result in Gly substitutions.
Joel T. Gibson +14 more
doaj +1 more source
Stem Cell Research, 2022 Alport syndrome is an inherited chronic kidney disease with genetic heterogeneity. There are three modes of inheritance: X-linked dominant inheritance, autosomal recessive inheritance, and autosomal dominant inheritance.
Gang Wang +6 more
doaj +1 more source
Temporal Macular Thinning Associated With X-Linked Alport Syndrome [PDF]
JAMA Ophthalmology, 2013 Optical coherence tomography (OCT) findings of temporal macular thinning are important in the diagnosis and prognosis of X-linked Alport syndrome (XLAS).To report OCT findings and severity of temporal macular thinning in a cohort with XLAS and to correlate these and other ocular findings with mutation genotype.Patients with XLAS underwent genotyping ...
Faisal, Ahmed +6 more
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"Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN " [PDF]
Iranian Journal of Public Health, 1993 Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosomal inheritance form is very rare.
D.D. Farhud; T.Rezaie Jami; M.R. Khosh-sorour; M. Islami; B.Broumand
doaj +2 more sources
Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome
Frontiers in Genetics, 2021 BackgroundAlport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities.
Wei-Hui Shi +25 more
doaj +1 more source
Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome. [PDF]
Kidney Int Rep, 2019 Alport syndrome (AS) is a hereditary nephritis caused by mutations in COL4A3, COL4A4, and COL4A5, which encode the collagen IV alpha3, alpha4, and alpha5 chains, respectively.1 The collagen IV alpha345 molecule is the major component of the mature glomerular basement membrane in the kidney.2 Disease-causing mutations in these genes may affect the ...
Bu L +6 more
europepmc +4 more sources
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
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Kidney International, 2020 A study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically confirmed X-linked Alport Syndrome.
A. Zurowska +27 more
semanticscholar +1 more source