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Kidney non-tumor

Hereditary renal disease

Hereditary onycho-osteodysplasia

Reviewers: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 10 January 2013, last major update August 2012
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.

General
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● Uncommon, autosomal dominant disease due to point mutations in LMX1B gene at 9q34, also 17q21-22
● Also called nail-patella syndrome, Turner-Keiser syndrome, Fong’s syndrome, Osterreicher Syndrome
● Fingernail aplasia or dysplasia (especially first fingers), patellar absence or hypoplasia, subluxation of radial head and iliac horns

Clinical features
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● 1 per 50,000 live births
● Renal involvement in 30-55% (Pediatr Nephrol 2009;24:2345), usually asymptomatic proteinuria but may progress to renal failure

Case reports
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● 6 year old girl with normal renal imaging (Pediatr Dermatol 2010;27:95)
● 22 year old man presenting with renal failure (Pan Afr Med J 2011;9:31)

Treatment
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● Anti-proteinuric therapy (Nephrol Dial Transplant 2009;24:1335)

Treatment
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● Transplant if severe kidney disease

Micro description
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● Focal thickening of glomerular capillary walls, variable sclerotic glomeruli

Micro images
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"Moth-eaten" appearance of glomerular basement membrane

Electron microscopy description
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● Irregular thickening of glomerular basement membrane with moth eaten electron-lucent areas
● Also collagen-like fibers in electron lucent area and in mesangium

Electron microscopy images
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Thickening of glomerular basement membrane and foot process fusion

Molecular description
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● Various mutations (J Korean Med Sci 2009;24 Suppl:S82)
● LMX1B mutations in most cases (Genet Med 2010;12:431)

End of Kidney non-tumor > Hereditary renal disease > Hereditary onycho-osteodysplasia

Ref Updated: 6/14/12

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