ORIGINAL ARTICLE
Difficulties in differentiating thin basement membrane disease from Alport syndrome
 
More details
Hide details
 
Submission date: 2015-05-18
 
 
Final revision date: 2016-04-01
 
 
Acceptance date: 2016-04-11
 
 
Publication date: 2017-02-10
 
 
Pol J Pathol 2016;67(4):357-363
 
KEYWORDS
TOPICS
ABSTRACT
We examined a group of 83 patients (57 children and 26 adults) with thin basement membrane disease and 17 patients with Alport syndrome. We compared the clinical data and, above all, the morphological patterns of both disease entities, with particular focus on not very advanced changes which might lead to a misdiagnosis due to the non-detection of the early stages of Alport syndrome.
REFERENCES (28)
1.
Mandache E, Gherghiceanu M. Ultrastructural defects of the glomerular basement membrane associated with primary glomerular nephropathies. Ultrastruct Pathol 2004; 28: 103-108.
 
2.
Collar JE, Ladva S, Cains TD, Cattel V. Red cell transverse througt thin glomerular basement mambranes. Kidney Int 2001; 59: 2069-2072.
 
3.
Lapis H, Foster K, Miner JH. Red cell transverse through thin glomerular basement membrane. Kidney Int 2002; 61: 762-763.
 
4.
Antonovych TT, Deasy PF, Tina LU, et al. Hereditary nephritis. Early clinical, functional, and morphological studies. Pediatr Res 1969; 3: 545-556.
 
5.
Spear GS, Slusser RJ. Alport’s syndrome. Emphasizing electron microscopic studies of the glomerulus. Am J Pathol 1972; 69: 213-224.
 
6.
Liapis H, Gökden N, Hmiel P, Miner JH. Histopathology, ultrastructure, and clinical phenotypes in thin glomerular basement membrane disease variants. Hum Pathol. 2002; 33: 836-845.
 
7.
Cosgrove D, Kalluri R, Miner JH, et al. Choosing a mouse model to study the molecular pathobiology of Alport glomerulonephritis. Kidney Int 2007; 71: 615-618.
 
8.
Cangiotti AM, Sessa A, Meroni M, et al. Evolution of glomerular basement membrane lesions in a male patient with Alport syndrome: ultrastructural and morphometric study. Nephrol Dial Transplant 1996; 11: 1829-1834.
 
9.
Habib R, Gubler MC, Hinglais N, et al. Alport’s syndrome: experience at Hôpital Necker. Kidney Int Suppl 1982; 11: S20-S28.
 
10.
Aarons I, Smith PS, Davies RA, et al. Thin membrane nephropathy: a clinico-pathological study. Clin Nephrol 1989; 32: 151-158.
 
11.
Lang S, Stevenson B, Risdon RA. Thin basement membrane nephropathy as a cause of recurrent haematuria in childhood. Histopathology 1990; 16: 331-337.
 
12.
Lamprecht R, Gross O, Netzer KO, et al. Autosomal recessive Alport syndrome and benign familial hematuria: diseases of same origin? J Am Soc Nephrol 1996; 7: 1616 (abstract).
 
13.
Lemmink HH, Nillesen WN, Mochizuki T, et al. Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. J Clin Invest 1996; 98: 1114-1118.
 
14.
Piqueras AJ, White RH, Raafat F, et al. Renal biopsy diagnosis in children presenting with hematuria. Pediatr Nephrol 1998; 12: 386-391.
 
15.
Lajoie G. Approch to diagnosis of thin basement membrane nephropathy in femals with the use of antibodies to IV collagen. Arch Pathol Lab Med 2001; 125: 631-636.
 
16.
Badenas C, Praga M, Tazon B, et al. Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuris. J Am Soc Nephrol 2002; 13: 1248-1254.
 
17.
Ueda T, Nakajima M, Akazawa H, et al. Quantitative analysis of glomerular type IV collagen alpha 3-5 chain expression in children with thin basement membrane disease. Nephron 2002; 92: 271-278.
 
18.
Buzza M, Dagher H, Wang YY, et al. Mutations in the COL4A4 gene in thin basement membrane disease. Kidney Int 2003; 63: 447-453.
 
19.
Gross O, Netzer KO, Lambrecht R, et al. Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. Nephrol Dial Transplant 2003; 18: 1122-1127.
 
20.
Gregory MC. Alport syndrome and thin basement membrane nephropathy: unraveling the tangled strands of type IV collagen. Kidney Int 2004; 65: 1109-1110.
 
21.
Akazawa H, Nakajima M, Nishiguchi M, et al. Quantitative immunoelectron-microscopic analysis of the type IV collagen a 1-6 chains in the glomerular basement membrane in childhood thin basement membrane disease. Clin Nephrol 2005; 5: 329-336.
 
22.
Rana K, Wang YY, Powell H, et al. Persistent familial hematuria in children and the locus for thin basement membrane nephropathy. Pediatr Nephrol 2005; 20: 1729-1737.
 
23.
Hou P, Chen Y, Ding J, et al. A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy. Am J Nephrol 2007; 27: 538-544.
 
24.
Zang KW, Tonna S, Wang YY, et al. Do mutations in COL­4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)? Pediatr Nephrol 2007; 22: 645-651.
 
25.
Foster K, Markowitz GS, D’Agati VD. Pathology of thin basement membrane nephropathy. Semin Nephrol. 2005; 25: 149-158.
 
26.
Meleg-Smith S. Alport disease: a review of the diagnostic difficulties. Ultrastruct Pathol 2001; 25: 193-200.
 
27.
Fogo AB, Kashgarian M. Glomerular diseases. In: Diagnostic Atlas of Renal Pathology. Elsevier Sanders 2005; 2-276.
 
28.
Churg J, Sobin LH. Chapter 17. In: Renal Disease. Igaku-Shoin Tokyo, New York 1982; 280-283.
 
eISSN:2084-9869
ISSN:1233-9687
Journals System - logo
Scroll to top