Alport disease: A review of the diagnostic difficulties

Ultrastructural Pathology

Volumn 25, Issue 3, 2001, Pages 193-200

  Meleg Smith, S ^a  

^a TULANE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

Author keywords

Alport syndrome; Glomerular basement membrane (GBM) ultrastructure; Renal biopsy; Thin basement membrane disease

Indexed keywords

COLLAGEN TYPE 4;

ALPORT SYNDROME; ARTICLE; CELL ULTRASTRUCTURE; ELECTRON MICROSCOPY; GENE MUTATION; GLOMERULUS BASEMENT MEMBRANE; HEMATURIA; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY BIOPSY; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

GLOMERULUS;

EID: 0034973461     PISSN: 01913123     EISSN: None     Source Type: Journal    
DOI: 10.1080/01913120119552     Document Type: Article

References (41)

1. Hereditary familial congenital haemorrhagic nephritis
2. Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport syndrome)
3. Making the diagnosis of Alport's syndrome
4. Renal prognosis in women with hereditary nephritis
5. Molecular genetics of Alport syndrome
6. Hereditary nephropathy (Alport syndrome): Correlation of clinical data with glomerular basement membrane alterations
7. X-linked Alport syndrome in females
8. Measurement of glomerular basement membrane thickness and its application to the diagnosis of thin-membrane nephropathy
9. Morphometric analysis of glomerular basement membranes (GBM) in thin basement membrane disease (TBMD)
10. Quantitative glomerular morphology of the normal human kidney
11. Glomerular basement membrane and lamina densa in infants and children: An ultrastructural evaluation
12. Alport syndrome
13. Alport syndrome and thin glomerular basement membrane disease
14. Pathology of glomerular basement membrane nephropathy
15. Ultrastructural and immunohistochemical findings in Alport's syndrome: A study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation
16. The clinical spectrum of type IV collagen mutations
17. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22Q11-13
18. Complete amino acid sequence of the human a5(IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient
19. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing
20. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome: Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression
21. A mutation causing Alport syndrome with tardive hearing loss is common in the western United States
22. X-linked Alport syndrome: Natural history in 195 families and genotype-phenotype correlations in males
23. Identification of mutations in the A3(IV) and A4(IV) collagen genes in autosomal recessive Alport syndrome
24. Benign familial hematuria due to mutation of the type IV collagen alpha4 gene
25. The Goodpasture antigen in Alport's syndrome: Studies with a monoclonal antibody
26. Immunochemical studies of the Alport antigen
27. Immunohistochemical study of α1-5 chains of type IV collagen in hereditary nephritis
28. Immunohistochemical localization of glomerular basement membrane antigens in various renal diseases
29. Distribution of familial nephritis antigen in normal tissue and renal basement membranes of patients with homozygous and heterozygous Alport familial nephritis
30. Abnormally thin glomerular basement membrane and the Goodpasture epitope
31. Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys
32. Expression of type IV collagen α3 and α4 chain mRNA in X-linked Alport syndrome
33. Autosomal recessive Alport syndrome: Immunohistochemical study of type IV collagen chain distribution
34. Glomerular basement membrane
35. The evolution of membranous glomerulonephritis reconsidered: New insights from a study on relapsing disease
36. Coexistence of thin membrane and Alport nephropathies in families with haematuria
37. Evolution of glomerular basement membrane lesions in a male patient with Alport syndrome: Ultrastructural and morphometric study
38. Thin basement membrane syndrome in adults
39. Benign familial hematuria
40. Thin basement membranes in minimally abnormal glomeruli
41. Abnormally thin glomerular basement membranes associated with hematuria, proteinuria, or renal failure