Kidney nontumor
Other hereditary renal disease
Hereditary onycho-osteodysplasia


Topic Completed: 7 January 2013

Minor changes: 11 February 2020

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PubMed Search: Hereditary onycho-osteodysplasia kidney pathology

Nikhil Sangle, M.D.
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Cite this page: Sangle N. Hereditary onycho-osteodysplasia. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/kidneyhereditaryonychoosteodysplasia.html. Accessed May 28th, 2020.
Definition / 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 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
Treatment
Microscopic (histologic) description
  • Focal thickening of glomerular capillary walls, variable sclerotic glomeruli
Microscopic (histologic) images

Images hosted on other servers:
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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

Images hosted on other servers:
Missing Image

Thickening of glomerular
basement membrane
and foot process fusion
Molecular / cytogenetics description
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