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Kidney non-tumor

Hereditary renal disease

Thin glomerular basement membrane disease / lesion


Reviewers: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 17 March 2014, last major update August 2012
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.

General
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● Hereditary, often autosomal dominant disorder of thinning of lamina dense of glomerular basement membrane; normal renal function initially, but possibly late development of renal insufficiency or hypertension
● Also called benign familiar hematuria

Clinical features
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● 1-2% of general population (Arch Pathol Lab Med 2006;130:699), rare after age 50; 20-25% have isolated hematuria
● Asymptomatic, hematuria discovered on routine urinalysis; rarely gross hematuria; mild proteinuria in 60% (Pol J Pathol 2009;60:35)
● Normal renal function, excellent prognosis, but up to 30% develop late-onset renal insufficiency or hypertension
● Investigation of families and long term follow up recommended (Kidney Int 2010;78:1041, Nephrol Dial Transplant 2005;20:545)
● A diagnosis of exclusion

Pathogenesis
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● Associated with abnormalities in alpha 3 and alpha 4 genes for type IV collagen
● Rarely due to mutations in COL4A5 (Pediatr Nephrol 2010;25:545)
● Most patients are heterozygous; in homozygotes, resembles Alport’s disease and progresses to renal failure, even in women (Arch Pathol Lab Med 2009;133:224)

Micro description
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● Red blood cells in Bowman’s space and renal tubules, but otherwise normal (Arch Pathol Lab Med 1988;112:794)

Micro images
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Various images (scroll down)


Glomerulus shows no abnormalities on H&E


Strong staining for alpha 3-5, in comparison to Alport’s syndrome

Immunofluorescence
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● Strong linear glomerular basement membrane staining for alpha 3 and 4 protein (similar to normals, Arch Pathol Lab Med 2001;125:631), positive antibody staining to NC1 domain of glomerular basement membrane from patients with thin basement membrane disease
● Occasional IgM and IgG deposits

Electron microscopy description
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● Uniform thinning of lamina dense of glomerular basement membrane to 200 nm in > 50% of glomerular capillaries
● Some authors believe segmental thinning is sufficient for diagnosis (Arch Pathol Lab Med 2006;130:1533)
● Glomerular membrane occasionally ruptures
● No thickening, lamellation or inclusions of glomerular basement membrane

Electron microscopy images
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Various images


Diffusely thin glomerular basement membranes

Differential diagnosis
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Alport’s syndrome in women without typical clinical findings: thick glomerular basement membrane, lamellation, granular inclusions and loss of staining for alpha 3 and alpha 4 protein (Hum Pathol 2002;33:836)
● IgA nephropathy
● Non-specific GBM thinning is also seen in lupus nephritis and postinfectious glomerulonephritis

End of Kidney non-tumor > Hereditary renal disease > Thin glomerular basement membrane disease / lesion

Ref Updated: 6/21/12


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