Home   Chapter Home   Jobs   Conferences   Fellowships   Books



Advertisement

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
=========================================================================

● 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
=========================================================================

● 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
=========================================================================

● 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
=========================================================================

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

Treatment
=========================================================================

● Transplant if severe kidney disease

Micro description
=========================================================================

● Focal thickening of glomerular capillary walls, variable sclerotic glomeruli

Micro images
=========================================================================



"Moth-eaten" appearance of glomerular basement membrane

Electron microscopy description
=========================================================================

● 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
=========================================================================


   
Thickening of glomerular basement membrane and foot process fusion

Molecular description
=========================================================================

● 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


This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.

All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at copyrightPathOut@gmail.com with any questions (click here for other contact information).