Pediatric Nephrology

, Volume 7, Issue 4, pp 354–360

Collagen type III glomerulopathy: a new type of hereditary nephropathy

Authors

  • M. C. Gubler
    • INSERM U.192, Département de Néphrologie PédiatriqueHôpital Necker Enfants-Malades
  • J. P. Dommergues
    • Service de PédiatrieHôpital Bicêtre
  • M. Foulard
    • Unité de Néphrologie PédiatriqueHôpital Calmette
  • A. Bensman
    • Service de Néphrologie PédiatriqueHôpital Trousseau
  • J. P. Leroy
    • Service d'Anatomie PathologiqueHôpital Augustin Morvan
  • M. Broyer
    • INSERM U.192, Département de Néphrologie PédiatriqueHôpital Necker Enfants-Malades
  • R. Habib
    • INSERM U.192, Département de Néphrologie PédiatriqueHôpital Necker Enfants-Malades
Original Article

DOI: 10.1007/BF00857536

Cite this article as:
Gubler, M.C., Dommergues, J.P., Foulard, M. et al. Pediatr Nephrol (1993) 7: 354. doi:10.1007/BF00857536

Abstract

A new type of hereditary glomerulopathy was observed in ten children presenting with early and progressive glomerular symptoms, often associated with hypertension. Light microscopy showed a diffuse increase in the mesangial matrix and generalized widening of the capillary walls. Electron-microscopic examination of renal tissue, after phosphotungstic acid treatment, revealed the presence of fibrillar collagen within the mesangial matrix and the subendothelial aspect of the glomerular basement membrane, adjacent to normal lamina densa. Immunohistochemical studies identified the fibrillar collagen not usually present within the glomerular extracellular matrix as type III collagen. Clinical and family studies ruled out the diagnosis of nail-patella syndrome, an autosomal dominant disorder with typical extrarenal symptoms, which is also characterized by the presence of fibrillar collagen within the glomerular basement membranes. The poor renal outcome, the possible extrarenal haematological and pulmonary involvement and the transmission as an autosomal recessive trait strongly suggest that collagen type III glomerulopathy is a new type of hereditary disease. From the high incidence of superimposed haemolytic uraemic syndrome in patients or their siblings, it may be hypothetized that collagen type III glomerulopathy is the underlying defect in some of the familial cases of haemolytic uraemic syndromes.

Key words

Hereditary nephropathyCollagen type III glomerulopathyType III collagenFamilial haemolytic uraemic syndromeNail-patella syndromeGlomerular extracellular matrix

Copyright information

© IPNA 1993