Nail-Patella Glomerulopathy Without Associated Constitutional Abnormalities

Craig W. Zuppan, Douglas Weeks, Drew Cutler

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

A 17-year-old boy presented with a history of longstanding hematuria and non-nephrotic proteinuria without renal insufficiency, for which renal biopsy was performed. The findings by routine light microscopy and direct immunofluorescence study were mild and nonspecific. Electron microscopy, however, demonstrated the unexpected finding of distinct collagen fibrils within capillary wall basement membranes, typical of the nail-patella syndrome. Repeat physical examination following the biopsy confirmed the presence of normal nails and patellae, and radiographs of the knees were also normal. The boy's renal disease was stable at last follow-up. The authors briefly discuss the differential diagnosis, and suggest that this case represents an unusual manifestation of the nail-patella syndrome, in which the glomerular changes are present in the absence of the usual associated constitutional abnormalities.

Original languageEnglish (US)
Pages (from-to)357-361
Number of pages5
JournalUltrastructural Pathology
Volume27
Issue number5
StatePublished - Sep 2003

Fingerprint

Nail-Patella Syndrome
Nails
Patella
abnormalities
hematuria
Biopsy
physical examinations
Kidney
Direct Fluorescent Antibody Technique
Hematuria
collagens
basements
Proteinuria
Basement Membrane
Physical Examination
Renal Insufficiency
Microscopy
Knee
electron microscopy
Electron Microscopy

Keywords

  • Electron
  • Glomerular basement membrane
  • Intramembranous collagen
  • Nail-patella syndrome
  • Osteo-onychodyspilasia

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Instrumentation
  • Structural Biology

Cite this

Zuppan, C. W., Weeks, D., & Cutler, D. (2003). Nail-Patella Glomerulopathy Without Associated Constitutional Abnormalities. Ultrastructural Pathology, 27(5), 357-361.

Nail-Patella Glomerulopathy Without Associated Constitutional Abnormalities. / Zuppan, Craig W.; Weeks, Douglas; Cutler, Drew.

In: Ultrastructural Pathology, Vol. 27, No. 5, 09.2003, p. 357-361.

Research output: Contribution to journalArticle

Zuppan, CW, Weeks, D & Cutler, D 2003, 'Nail-Patella Glomerulopathy Without Associated Constitutional Abnormalities', Ultrastructural Pathology, vol. 27, no. 5, pp. 357-361.
Zuppan, Craig W. ; Weeks, Douglas ; Cutler, Drew. / Nail-Patella Glomerulopathy Without Associated Constitutional Abnormalities. In: Ultrastructural Pathology. 2003 ; Vol. 27, No. 5. pp. 357-361.
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