Alport's syndrome: specificity and pathogenesis of glomerular basement membrane alterations

1987 ◽  
Vol 1 (3) ◽  
pp. 422-427 ◽  
Author(s):  
Hans-Joachim Rumpelt
Keyword(s):  
Basement Membrane ◽  
Glomerular Basement Membrane ◽  
Alport's Syndrome ◽  
Alport’S Syndrome

Alport’s Syndrome: Risk of Glomerulonephritis Induced by Anti-Glomerular-Basement-Membrane Antibody after Renal Transplantation

Nephron ◽  
1988 ◽  
Vol 50 (1) ◽  
pp. 34-38 ◽  
Author(s):  
Bharat Shah ◽  
Roy First ◽  
Nina C. Mendoza ◽  
David H. Clyne ◽  
Wesley Alexander ◽  
...  
Keyword(s):  
Renal Transplantation ◽  
Basement Membrane ◽  
Glomerular Basement Membrane ◽  
Alport's Syndrome ◽  
Alport’S Syndrome

The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome after renal transplantation: characterization of the antibody target

1989 ◽  
Vol 3 (4) ◽  
pp. 406-413 ◽  
Author(s):  
L. P. W. J. v. d. Heuvel ◽  
C. H. Schröder ◽  
C. O. S. Savage ◽  
D. Menzel ◽  
K. J. M. Assmann ◽  
...  
Keyword(s):  
Renal Transplantation ◽  
Basement Membrane ◽  
Glomerular Basement Membrane ◽  
Alport's Syndrome ◽  
Alport’S Syndrome

scholarly journals Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations.

1998 ◽  
Vol 9 (6) ◽  
pp. 1023-1031
Author(s):  
G Mazzucco ◽  
P Barsotti ◽  
A O Muda ◽  
M Fortunato ◽  
M Mihatsch ◽  
...  
Keyword(s):  
Basement Membrane ◽  
Glomerular Basement Membrane ◽  
Multidisciplinary Approach ◽  
Genetic Mutation ◽  
Alport's Syndrome ◽  
Col4a5 Gene ◽  
Alport’S Syndrome ◽  
Combined Use ◽  
Definition Of ◽  
Insight Into

A total of 108 patients affected by Alport's syndrome, taken from 97 families, were enrolled in a genetic and ultrastructural study. Sixty-four families (75 patients) were X-linked, seven autosomal recessive, two autosomal dominant, five uninterpretable, and 19 sporadic. The ultrastructural features were consistent with Alport's syndrome in 66, doubtful in 20, and not significant for Alport's syndrome in 22 patients in the X-linked, sporadic, and genetically uninterpretable groups (without significant differences), as well as in the autosomal group. Mutations of the COL4A5 gene were present in 36 patients in the first three groups, without significant differences. More severe mutations were more frequently present in patients with an ultrastructural pattern consistent with Alport's syndrome. Nevertheless, there seems to be no strict correlation between mutation and ultrastructure, because a major rearrangement was found in a patient with no significant lesions, and different morphologic patterns were detected in patients Belonging to the same family. Immunohistochemical investigation into 24 patients for alpha (IV) chains showed that both alpha 3(IV) and alpha 5(IV) were lacking in the glomerular basement membrane of 13 patients (five with mutations) and were expressed in another six (three with mutations and one in the autosomal group). On the contrary, in this study the retained expression of alpha 3(IV) chain was found, despite the lack of alpha 5(IV) in the glomerular basement membrane of five patients (two with mutation). These different patterns could be related to both the type and severity of the COL4A5 mutations. All of the ultrastructural patterns were identified in all three immunohistochemical groups. Ultrastructural features and alpha 5(IV) chain production, even if an expression of a genetic mutation, do not strictly correlate. The combined use of analysis of collagen expression and electron microscopy made it possible to diagnose Alport's syndrome in 92% of the cohort, and therefore this approach is advisable. A multidisciplinary approach is recommended in the study of Alport's syndrome in an attempt to achieve a better diagnostic definition of and insight into the pathogenetic mechanisms.

Immunological Studies on Glomerular Basement Membrane in Alport's Syndrome

1984 ◽  
Vol 67 (s9) ◽  
pp. 38P-38P
Author(s):  
C.O.S. Savage ◽  
C.D. Pusey ◽  
M. Kershaw ◽  
P. Harrison ◽  
J.S. Cameron ◽  
...  
Keyword(s):  
Basement Membrane ◽  
Glomerular Basement Membrane ◽  
Alport's Syndrome ◽  
Alport’S Syndrome

Allograft Antiglomerular Basement Membrane Glomerulonephritis in a Patient with Alport’s Syndrome

Nephron ◽  
1987 ◽  
Vol 46 (1) ◽  
pp. 43-44 ◽  
Author(s):  
J.L. Teruel ◽  
F. Liaño ◽  
F. Mampaso ◽  
J. Moreno ◽  
A. Serrano ◽  
...  
Keyword(s):  
Basement Membrane ◽  
Alport's Syndrome ◽  
Alport’S Syndrome

scholarly journals Alport's syndrome

2010 ◽  
Vol 8 (2) ◽  
pp. 238-240
Author(s):  
P Bastola ◽  
SN Joshi ◽  
M Chaudhary ◽  
DN Shah
Keyword(s):  
Medical Journal ◽  
Basement Membrane ◽  
Key Words ◽  
Clinical Features ◽  
Alport's Syndrome ◽  
Inherited Disorders ◽  
Oil Droplet ◽  
Alport’S Syndrome ◽  
Systemic Problems ◽  
Anterior Lenticonus

Alport's syndrome (Haemorrhagic Familial Nephritis) is a rare syndrome. It encompasses a group of heterogeneously inherited disorders involving the basement membrane of the kidney frequently involving the cochlea and the eye. We describe here the detailed ocular findings and the systemic problems of a case of Alport's syndrome in a 30 years male from Nepal. The current understanding of the clinical features and aetiopathogenesis are also discussed. Key words: Alport's syndrome; Anterior lenticonus; Oil droplet sign; Anterior capsular cataract; Perimacular flecks DOI: 10.3126/kumj.v8i2.3566 Kathmandu University Medical Journal (2010), Vol. 8, No. 2, Issue 30, 238-240

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