scholarly journals Association between Alport’s Syndrome and Familial Goiter

Nephron ◽  
1983 ◽  
Vol 35 (3) ◽  
pp. 215-215
Author(s):  
J.P. Gayno ◽  
J.C. Savoie
Keyword(s):  
Alport's Syndrome ◽  
Alport’S Syndrome ◽  
Familial Goiter

scholarly journals Alport’s syndrome with type 4 renal tubular acidosis

2017 ◽  
pp. bcr-2017-220146
Author(s):  
Thomas McDonnell ◽  
Chukwuma Chukwu ◽  
Christopher Wong
Keyword(s):  
Renal Tubular Acidosis ◽  
Alport's Syndrome ◽  
Alport’S Syndrome ◽  
Renal Tubular

Severe to profound hearing loss in patients with progressed Alport's syndrome

2009 ◽  
Vol 129 (9) ◽  
pp. 982-987 ◽  
Author(s):  
In Seok Moon ◽  
Mi-Young Bang ◽  
Dae Bo Shim ◽  
Seung-Ho Shin ◽  
Jae Young Choi
Keyword(s):  
Hearing Loss ◽  
Alport's Syndrome ◽  
Profound Hearing Loss ◽  
Alport’S Syndrome

scholarly journals Eye problems in a family with Alport's syndrome

1996 ◽  
Vol 11 (11) ◽  
pp. 2351-2352 ◽  
Author(s):  
D. J. Brazier ◽  
G. H. Neild
Keyword(s):  
Alport's Syndrome ◽  
Alport’S Syndrome ◽  
Eye Problems

scholarly journals Segregation Ratios in Alport's Syndrome

1973 ◽  
Vol 10 (1) ◽  
pp. 23-26 ◽  
Author(s):  
E. MacNeill ◽  
R. F. Shaw
Keyword(s):  
Alport's Syndrome ◽  
Alport’S Syndrome ◽  
Segregation Ratios

scholarly journals Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia

Blood ◽  
1985 ◽  
Vol 65 (2) ◽  
pp. 397-406 ◽  
Author(s):  
LC Peterson ◽  
KV Rao ◽  
JT Crosson ◽  
JG White
Keyword(s):  
Adenosine Diphosphate ◽  
Cell Number ◽  
Alport's Syndrome ◽  
Cytoplasmic Inclusions ◽  
Microscopic Appearance ◽  
Alport’S Syndrome ◽  
Fechtner Syndrome ◽  
Ultrastructural Appearance ◽  
10 Nm Filaments ◽  
End Stage

This study reports a family comprising four generations in whom nephritis, deafness, congenital cataracts, macrothrombocytopenia, and leukocyte inclusions were observed in varying combinations in eight of 17 members. The family differs from others reported in that their hematologic abnormalities include not only macrothrombocytopenia, but also small, pale blue cytoplasmic inclusions in the neutrophils and eosinophils. Light microscopic appearance of the inclusions resembled that of toxic Dohle bodies and inclusions of May-Hegglin anomaly, but their ultrastructural appearance was unique. The inclusions consisted of clusters of ribosomes and small segments of rough endoplasmic reticulum (RER). They lacked the parallel 10-nm filaments characteristic of May-Hegglin anomaly and the parallel strands of RER seen in toxic Dohle bodies. Platelets were large, but their light and ultrastructural appearance was not significantly different from normal platelets. Platelet aggregation in response to epinephrine, arachidonate, thrombin, adenosine diphosphate, collagen, and ristocetin was normal. Levels of nucleotides and serotonin were elevated in proportion to cell volume. The concentration of adenosine triphosphate secreted and the percentage of arachidonic acid converted to thromboxane B2 were proportional to cell number. Deafness was high-tone sensorineural. Renal disease ranged from microscopic hematuria to end- stage renal failure necessitating dialysis and kidney transplantation. All affected adults had cataracts. This family represents a variant of Alport's syndrome with cataracts and leukocyte inclusions that, because of the associated macrothrombocytopenia, may be confused with May- Hegglin anomaly.

scholarly journals Diagnostic Value of Type IV Collagen Expression in Renal Glomeruli at Alport’s Syndrome

2021 ◽  
Vol 65 (6) ◽  
pp. 42-49
Author(s):  
M. E. Aksenova ◽  
P. E. Povilaitite ◽  
N. E. Konkova ◽  
V. V. Dlin
Keyword(s):  
Electron Microscopy ◽  
Type Iv Collagen ◽  
Immunohistochemical Study ◽  
Immunohistochemical Method ◽  
Alport's Syndrome ◽  
Alport’S Syndrome ◽  
Type Iv ◽  
Renal Glomeruli ◽  
Syndrome Diagnosis

The Alport’s syndrome is the hereditary multisystem disease characterized by the development of the progressive nephropathy. The early diagnosis and subsequent prescription of nephroprotective therapy improves significantly the nephrological prognosis. Purpose of the Study. Determine the value of the immunohistochemical method for the Alport’s syndrome diagnosis. Material and methods. The clinical, laboratory and morphological data of 35 patients with suspected Alport’s syndrome (13 years of age [11; 16]; 18 boys and 17 girls) examined in the Nephrology Department in 2013–2019 were summarized. The study of the renal tissue included the light, immunofluorescence, electron microscopy of the kidney biopsy sample, determination of the expression of α1, α3 and α5 chains of type IV collagen in the renal glomeruli using the immunohistochemical method; the genetic testing was carried out for 26 patients. The children were divided into groups depending on the glomerular expression of α5 chain of type IV collagen: normal (group 1, n=18), decreased (group 2, n=4), negative (group 3, n=13). Results are as the following: The disorder of the expression of α5 chain was detected in ¾ (q = 0.78) patients with genetically confirmed Alport’s syndrome and in almost all children with the X-linked variant of the disease (q = 0.94). Results. Based on the genetic testing, the Alport’s syndrome was confirmed in ¼ of the children of the 1st group (the children with the heterozygous variants of COL4A3, COL4A5 genes) and in all children of the 2nd and 3rd groups (COL4A5 variants). The sensitivity/ specificity of the immunohistochemical study for the Alport’s syndrome diagnosis was 78% /100%, that of the electron microscopy – 93% /87%. The predictive value of the positive/negative result of the immunohistochemical study was 100% /66%, that of the electron microscopy – 95% / 88% compared with 100% / 88% with the combine use of two methods. Conclusion. The determination of the expression of α5 chain of type IV collagen in the renal glomeruli has the independent diagnostic value, but it is inferior to the electron microscopy in the heterozygous variants of the Alport’s syndrome. The high specificity of the immunohistochemical method makes it possible to confirm the Alport’s syndrome in the case of the change in the expression of α5 chain of type IV collagen in the renal glomeruli.

A CASE OF ALPORT'S SYNDROME

1974 ◽  
Vol 24 (4) ◽  
pp. 551-567
Author(s):  
Issei Nishimori ◽  
Nobuo Moriyama ◽  
Nobuo Tsuda ◽  
Akira Shimomura
Keyword(s):  
Alport's Syndrome ◽  
Alport’S Syndrome
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