Alport Syndrome
Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation
... Case presentation: We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation ...
5
COL4A4 gene. The results add to the spectrum of mutations in COL4A4 of Alport syndrome.
... Alport syndrome (AS) is a familial hereditary nephropathy, characterized by molecular abnor- malities in Collagen IV a345, the main consti- tuent of glomerular basal ...with Alport syndrome ...
5
Generation of induced pluripotent stem cells from renal tubular cells of a patient with Alport syndrome
... Abstract: Alport syndrome (AS) is a hereditary disease that leads to kidney failure and is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes that lead to the absence of collagen α3α4α5 (IV) ...
9
Angiotensin converting enzyme inhibitor therapy in children with Alport syndrome: effect on urinary albumin, TGF-β, and nitrite excretion
... Our data indicate that in early AS, hematuria and sub-ne- phrotic range proteinuria are exclusively the result of in- trinsic glomerular barrier dysfunction and are not the consequence of acutely reversible alterations ...
5
Loss of the BMP antagonist USAG 1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome
... disorder Alport syndrome, a progressive hereditary kidney disease associated with sensorineural deafness ...in Alport syndrome instead retains the fetal α1/α1/α2(IV) collagen network (9), ...
11
Resolution of Late Steroid Responsive Nephrotic Syndrome in a Patient with Alport Syndrome Treated with Atorvastatin
... Experimental and clinical studies have pointed out the lipid-induced renal damage, and statins may have pleiotropic effects on renoprotection. We reported a girl with X-linked Alport syndrome whose late ...
6
Optic Disc Drusen in a Child Diagnosed with Alport Syndrome—Case Report
... nerve. Alport syndrome is a collagen IV related nephropathy with well-descri- bed pathognomonic ocular ...of Alport syndrome, which is not related to development of optic disc ...of ...
5
Original Article Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5
... Background: Alport syndrome (AS) is a genetic disease characterized by progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD), sensorineural hearing loss and ocular ...
6
Deletions in the COL4A5 collagen gene in X linked Alport syndrome Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression
... The type IV collagen alpha 5 chain (COL4A5) gene of 88 unrelated male patients with X- linked Alport syndrome was tested for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA probes. 14 ...
14
Original Article Novel deletion mutation in a Chinese family with X-linked alport syndrome
... [7] Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tonshoff B, Hocker B, Wygoda S, Ehrich JH, Pape L, Konrad M, Rascher W, Dotsch J, Muller- Wiefel DE, Hoyer P, Study Group Members of the Gesellschaft fur Padiatrische N, ...
11
An overlap of Alport syndrome and rheumatoid arthritis in a patient and literature review
... of Alport syndrome and RA in present case may be occasional, abnormal type IV collagen might par- ticipate in the pathogenesis of RA, which needs more re- lated case reports and studies to prove in ...
5
Long-term management of Alport syndrome in pediatric patients
... The effect of most mutations in COL4A3, COL4A4, or COL4A5 is to prevent or impair deposition of the α 3 α 4 α 5(IV) network into basement membranes. This net- work is not required for ontogeny of the kidney, cochlea or ...
5
Comparative distribution of the alpha 1(IV), alpha 5(IV), and alpha 6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X linked Alport syndrome patients
... We have shown previously that the 5' ends of the genes for the alpha 5(IV) and alpha 6(IV) collagen chains lie head-to-head on Xq22 and are deleted in patients with Alport syndrome (AS)-associated diffuse ...
11
Isoform switching of type IV collagen is developmentally arrested in X linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis
... Normal glomerular capillaries filter plasma through a base- ment membrane (GBM) rich in a 3(IV), a 4(IV), and a 5(IV) chains of type IV collagen. We now show that these latter isoforms are absent biochemically from the ...
10
Molecular testing for adult type Alport syndrome
... Background: Alport syndrome (AS) is a progressive renal disease with cochlear and ocular involvement. The majority of AS cases are X-linked (XLAS) and due to mutations in the COL4A5 gene. Although the ...
6
Non-collagen genes role in digenic Alport syndrome
... For the first time, here we describe three families, two with an apparent autosomal dominant ATS and one with an X-linked pattern of transmission, in which a patho- genic mutation in COL4A4 or COL4A5 cosegregate with a ...
9
Original Article Clinicopathological characteristics and intrarenal angiotensin II expression in X-linked Alport syndrome
... Abstract: Background: The aim of this study was to assess the pathological and clinical features of children with X-linked Alport syndrome (XLAS), and to map intrarenal expression of angiotensin II (AngII). ...
9
Age- and tissue-specific variation of X-inactivation ratios in X-linked Alport syndrome females
... Background: Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked dominant AS (XLAS) is the major inheritance form, accounting for almost 80% ...
6
Long-term survival in Japanese renal transplant recipients with Alport syndrome: a retrospective study
... α3α4α5 chains are produced only by podocytes, as evi- denced by immunoelectron microscopic examination [10]. In human kidney transplantation research, Becker showed that recipient-derived podocytes were found in 4 of 8 ...
9
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
... Different vari- ant types such as deletions, insertions, splicing variants, direct or indirect nonsense mutations, and missense variants (including Gly or non-Gly substitutions) in COL4A[r] ...
11