A Novel Mutation of COL4A3 Presents a Different Contribution to Alport Syndrome and Thin Basement Membrane Nephropathy

2007 ◽  
Vol 27 (5) ◽  
pp. 538-544 ◽  
Author(s):  
Ping Hou ◽  
Yuqing Chen ◽  
Jiaxiang Ding ◽  
Guangtao Li ◽  
Hong Zhang
Keyword(s):  
Basement Membrane ◽  
Alport Syndrome ◽  
Novel Mutation ◽  
Thin Basement Membrane Nephropathy

scholarly journals Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review

2020 ◽  
Vol 13 (6) ◽  
pp. 1025-1036 ◽  
Author(s):  
Andreas Matthaiou ◽  
Tsielestina Poulli ◽  
Constantinos Deltas
Keyword(s):  
Basement Membrane ◽  
Alport Syndrome ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Age At Onset ◽  
Histological Finding ◽  
Basement Membranes ◽  
Thin Basement Membrane Nephropathy ◽  
Molecular Features ◽  
Thin Basement Membrane Disease

Abstract Background Patients heterozygous for COL4A3 or COL4A4 mutations show a wide spectrum of disease, extending from familial isolated microscopic haematuria, as a result of thin basement membranes (TBMs), to autosomal dominant Alport syndrome (ADAS) and end-stage renal disease (ESRD). Many patients are mentioned in the literature under the descriptive diagnosis of TBM nephropathy (TBMN), in which case it actually describes a histological finding that represents the carriers of autosomal recessive Alport syndrome (ARAS), a severe glomerulopathy, as most patients reach ESRD at a mean age of 25 years. Methods We performed a systematic literature review for patients with heterozygous COL4A3/A4 mutations with the aim of recording the spectrum and frequency of pathological features. We searched three databases (PubMed, Embase and Scopus) using the keywords ‘Autosomal Dominant Alport Syndrome’ OR ‘Thin Basement Membrane Disease’ OR ‘Thin Basement Membrane Nephropathy’. We identified 48 publications reporting on 777 patients from 258 families. Results In total, 29% of the patients developed chronic kidney disease (CKD) and 15.1% reached ESRD at a mean age of 52.8 years. Extrarenal features and typical Alport syndrome (AS) findings had a low prevalence in patients as follows: hearing loss, 16%; ocular lesions, 3%; basement membrane thickening, 18.4%; and podocyte foot process effacement, 6.9%. Data for 76 patients from 54 families emphasize extensive inter- and intrafamilial heterogeneity, with age at onset of ESRD ranging between 21 and 84 years (mean 52.8). Conclusions The analysis enabled a comparison of the clinical course of patients with typical ARAS or X-linked AS with those with heterozygous COL4A mutations diagnosed with TBMN or ADAS. Despite the consequence of a potential ascertainment bias, an important outcome is that TBM poses a global high risk of developing severe CKD, over a long follow-up, with a variable spectrum of other findings. The results are useful to practicing nephrologists for better evaluation of patients.

scholarly journals Diagnosis of Alport syndrome and thin basement membrane nephropathy in childhood

2017 ◽  
Vol 71 ◽  
pp. 73-81
Author(s):  
Anna Moczulska ◽  
Joanna Walkosz ◽  
Estera Zarębska ◽  
Mateusz Mleczko ◽  
Katarzyna Zachwieja ◽  
...  
Keyword(s):  
Basement Membrane ◽  
Alport Syndrome ◽  
Thin Basement Membrane Nephropathy

Expert Guidelines for the Management of Alport Syndrome and Thin Basement Membrane Nephropathy

2013 ◽  
Vol 24 (3) ◽  
pp. 364-375 ◽  
Author(s):  
Judy Savige ◽  
Martin Gregory ◽  
Oliver Gross ◽  
Clifford Kashtan ◽  
Jie Ding ◽  
...  
Keyword(s):  
Basement Membrane ◽  
Alport Syndrome ◽  
Thin Basement Membrane Nephropathy

Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy

2017 ◽  
Vol 39 (2) ◽  
pp. 208-214 ◽  
Author(s):  
Yan Chen ◽  
Deb Colville ◽  
Francesco Ierino ◽  
Andrew Symons ◽  
Judy Savige
Keyword(s):  
Basement Membrane ◽  
Alport Syndrome ◽  
Thin Basement Membrane Nephropathy ◽  
Retinal Thinning

scholarly journals Spectrum of collagen type IV nephropathies: From thin basement membrane nephropathy to Alport syndrome

2008 ◽  
Vol 136 (Suppl. 4) ◽  
pp. 323-326 ◽  
Author(s):  
Alenka Vizjak ◽  
Dusan Ferluga
Keyword(s):  
Basement Membrane ◽  
Glomerular Basement Membrane ◽  
Alport Syndrome ◽  
Type Iv Collagen ◽  
Mutation Screening ◽  
Glomerular Sclerosis ◽  
Collagen Type Iv ◽  
Dominant Type ◽  
Thin Basement Membrane Nephropathy ◽  
Type Iv

Alport syndrome and thin basement membrane nephropathy are common causes of persistent familial haematuria. They are associated with various mutations in type IV collagen genes. Mutations in genes, coding for ?5 chain of collagen IV, cause X-linked Alport syndrome, whereas mutations in genes for ?3 and ?4 chains can cause the autosomal recessive and autosomal dominant type of Alport syndrome or benign familial haematuria with thin basement membrane nephropathy. In view of the wide spectrum of phenotypes, an exact diagnosis is sometimes difficult to achieve. Few studies of genotype-phenotype correlations in Alport syndrome have shown that various types of mutations may be a significant predictor of the severity of disease. Histopathologic findings in Alport syndrome vary from normal kidney to nonspecific focal segmental and global glomerular sclerosis with characteristic ultrastructural finding of thickening and splitting of the glomerular basement membrane. Thin basement membrane nephropathy is characterized by diffuse thinning of the glomerular basement membrane on an ultrastructural level, while by light microscopy glomeruli are mostly unremarkable. Because of present limitations of mutation screening techniques, kidney biopsy with mandatory ultrastructural analysis and immunohistochemistry examination for type IV collagen ? chains remains a standard approach for establishing diagnosis and determining the mode of transmission of the disease.

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