A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome

Dagher, H., Buzza, M., Colville, D., Jones, C., Powell, H., Fassett, R., Wilson, D., Agar, J. and Savige, J. (2001) A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome. American Journal of Kidney Diseases, 38 6: 1217-1228. doi:10.1053/ajkd.2001.29217


Author Dagher, H.
Buzza, M.
Colville, D.
Jones, C.
Powell, H.
Fassett, R.
Wilson, D.
Agar, J.
Savige, J.
Title A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome
Journal name American Journal of Kidney Diseases   Check publisher's open access policy
ISSN 0272-6386
Publication date 2001-12
Sub-type Article (original research)
DOI 10.1053/ajkd.2001.29217
Volume 38
Issue 6
Start page 1217
End page 1228
Total pages 12
Place of publication Maryland Heights, MO, United States
Publisher W.B. Saunders
Language eng
Abstract Previous series that described phenotypes in carriers of Alport's syndrome did not distinguish genetically between carriers of X-linked and autosomal recessive disease. In this study, modes of inheritance in unselected families with Alport's syndrome associated with two city and two provincial hospitals were determined using microsatellite markers, and carriers of disease haplotypes were identified within these families. All 47 carriers (100%) from 18 families with X-linked Alport's syndrome had dysmorphic hematuria on phase-contrast microscopy, but few developed renal failure (3 of 40 carriers; 8%), clinical hearing loss (2 of 45 carriers; 4%), retinopathy (1 of 30 carriers; 3%), or lenticonus (0 of 30 carriers; 0%). Eleven of the 14 carriers (79%) from 2 families with autosomal recessive disease had dysmorphic hematuria, but none had renal failure, clinical hearing loss, retinopathy, or lenticonus. Urinary red blood cell counts in carriers of X-linked Alport's syndrome were greater than those in carriers of autosomal recessive disease (P < 0.0001), but the frequency of proteinuria and hypertension and levels of protelnuria were not different. There was more tubulointerstitial damage in carriers of X-linked disease (P = 0.012); however, carriers of autosomal recessive disease had more widespread and more uniform thinning of the glomerular basement membrane (P < 0.0001) and less lamellation (P < 0.04).
Keyword Alport's syndrome
Collagen type IV
Glomerular basement membrane (GBM)
Hematuria
Lenticonus
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Human Movement Studies Publications
 
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