Genotype ‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome

ConclusionOur results revealed the spectrum of type IV collagen genes, which contribute to the enrichment of database resources and has important implications in the diagnosis, prognosis, and guiding treatment of AS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Alport syndrome (AS) is a hereditary nephropathy characterized by glomerular basement membrane lesions. AS shows a relatively rare entity with autosomal dominant gene mutation (accounts for less than 5 percent of AS cases) and is widely believed to be a consequence of heterozygous variants in the COL4A3 and COL4A4 genes. Until now, there have been no reports of homozygous variants in genes in AS patients, and it is scarce to detect both homozygous and heterozygous variants in a single Alport syndrome pedigree. We performed genetic analysis by exome sequencing (exome-seq) in a Chinese family with AS and found four individua...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
We report a 30-year-old male who presented with proteinuria and elevated serum creatinine and for whom the initial pathologic diagnosis supported Alport syndrome. Diagnoses: A diagnosis of Fabry disease with immunoglobulin A nephropathy (IgAN) was finally made after further examination. Interventions: After the initial diagnosis the patient was treated with herbal medications and mecobalamin. Outcomes: The patient was discharged 1 week later. He was maintained on these treatments and received regular follow-up in our hospital. Lessons subsections as per style: FD coexisting with IgAN is rare and may have nons...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
COL4A5 mutation causes Alport syndrome with focal segmental glomerulosclerosis lesion: Case report and literature review
. Clin Nephrol. 2019 Jun 14;: Authors: Zhang P, Zhuo L, Zou Y, Li G, Peng K Abstract COL4A5 gene mutations are known as the cause of Alport syndrome (AS), which typically manifests with hematuria, progressive renal failure, sensorineural hearing loss, and ocular abnormalities. Here we report a case of a 20-year-old male patient presenting with nephrotic syndrome who was diagnosed as having AS with focal segmental glomerulosclerosis (FSGS) lesion after the renal biopsy was performe...
Source: Clinical Nephrology - Category: Urology & Nephrology Authors: Tags: Clin Nephrol Source Type: research
Collagen IV scaffold is a principal component of the basement membrane (BM), a specialized extracellular matrix that is essential for animal multicellularity and tissue evolution. Scaffold assembly begins with the trimerization of α-chains into protomers inside the cell, which then are secreted and undergo oligomerization outside the cell. For the ubiquitous scaffold composed of α1- and α2-chains, both intracellular and extracellular stages are mediated by the noncollagenous domain (NC1). The association of protomers is chloride-dependent, whereby chloride ions induce interactions of the protomers' trimer...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Glycobiology and Extracellular Matrices Source Type: research
CONCLUSION: In this reported case, a delayed non-treatment decision has been proved right contrary to published evidence of active treatment of photophobia. The decision whether to treat or not to treat corneal involvement of the disease is not straightforward. Besides biomicroscopic evaluations, patients' complaints and expectations should be taken into account. PMID: 31074291 [PubMed - as supplied by publisher]
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Eur J Ophthalmol Source Type: research
Conclusion: We identified novel mutations in Koreans with an X-linked AS mutation in the COL4A5 gene and an individual phenotype. This is the first report of AS patients with a novel missense mutation and copy number variation.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
This study examined the retinal microvasculature in Alport syndrome. MATERIALS AND METHODS: Retinal images from 28 males and 28 females with X-linked Alport syndrome, and 13 individuals with autosomal recessive disease were reviewed retrospectively for microvascular/ hypertensive retinopathy (Wong and Mitchell classification), and small vessel calibre (using a computerised semiautomated method and revised Knudtson formula). Data were compared with age and gender-matched individuals with normal blood pressure and renal function. RESULTS: Microvascular/hypertensive retinopathy was more common in males and female...
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
ConclusionA comparison of the clinical manifestations caused by different types of mutations inCOL4A5 suggested that large fragment mutations are relatively more severe than the other missense mutations and AS by some mutations may show inter ‐ and intra‐familial phenotypic variability. It is important to consider these transmission patterns in the clinical evaluation according to the results of genetic testing, especially for DI. Twenty two new mutations can expand the genotypic spectrum of AS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
CONCLUSION: A comparison of the clinical manifestations caused by different types of mutations in COL4A5 suggested that large fragment mutations are relatively more severe than the other missense mutations and AS by some mutations may show inter- and intra-familial phenotypic variability. It is important to consider these transmission patterns in the clinical evaluation according to the results of genetic testing, especially for DI. Twenty two new mutations can expand the genotypic spectrum of AS. PMID: 30968591 [PubMed - as supplied by publisher]
Source: Molecular Medicine - Category: Molecular Biology Authors: Tags: Mol Genet Genomic Med Source Type: research
CONCLUSION: The stair-case foveal sign, choroidal thinning and mid-peripheral schisis are three signs that clinicians might expect to encounter on optical coherence tomography imaging of patients with Alport syndrome. These findings can be attributed to unique mutations of collagen IV which lead to a variety of clinical phenotypes affecting basement membrane structures. Identification of these features may not only be useful diagnostically and in forecasting complications such as macular holes, but also predict mode of inheritance and likelihood of early-onset renal failure. PMID: 30957516 [PubMed - as supplied by publisher]
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Eur J Ophthalmol Source Type: research
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