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Clinical and pathologic features of familial focal segmental glomerulosclerosis

Am J Kidney Dis. 1995 Jul;26(1):34-40. doi: 10.1016/0272-6386(95)90150-7.

Abstract

The occurrence of focal segmental glomerulosclerosis (FSGS) in a familial pattern has been rarely reported previously. Over the last 10 years we have treated 31 patients among eight families with familial FSGS. The diagnosis was confirmed by renal biopsy in 18 cases, and each family had at least two members in whom the diagnosis was confirmed histologically. Both males and females were affected, as were both blacks and whites. The mean age at presentation was 28 years, with a range of 8 to 56 years. The mean serum creatinine at presentation was 3.7 mg/dL. Twenty-five of the 31 patients progressed to end-stage renal disease; and treatment with prednisone did not appear to retard the progression to end-stage renal disease. Seven patients received a cadaveric renal transplant and none of them showed evidence of recurrence of disease in the graft. The pattern of inheritance in two families appeared to be autosomal dominant; in the other families the pattern of inheritance was less clear and may have been autosomal recessive, although a familial exposure to an unidentified environmental toxin cannot be excluded. Histologic examination of the renal tissue revealed a variety of changes previously described as occurring in FSGS. We conclude that FSGS may occur in a familial pattern that carries a poor prognosis. Further studies of these families may shed light on the pathogenesis of sporadic FSGS.

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Child
  • Creatinine / blood
  • Family Health
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Glomerulosclerosis, Focal Segmental / blood
  • Glomerulosclerosis, Focal Segmental / genetics
  • Glomerulosclerosis, Focal Segmental / pathology*
  • Humans
  • Kidney Glomerulus / pathology
  • Kidney Glomerulus / ultrastructure
  • Kidney Transplantation
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Pedigree

Substances

  • Creatinine