Tuberous sclerosis with striking renal involvement in a family

Arch Intern Med. 1975 Aug;135(8):1082-7.

Abstract

We describe five cases of tuberous sclerosis in members of one family, all having renal involvement but with differences in age of onset and mode of presentation. Clinical, laboratory, and pathologic features helpful in diagnosing this condition and in distinguishing it from polycystic kidney disease and renal neoplasms are stressed. Tuberous sclerosis should always be considered in differential diagnosis of patients with multiple cystic renal lesions, particularly when age of onset of symptoms ranges from infancy to adult life in different members of one family. Absence both of specific glomerular or tubular lesions in ultrastructure and of major abnormalities in renal tubular function supports the existing concept that replacement of nephrons by hamartomatous lesions is the cause of progressive renal failure.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adenoma / etiology
  • Adult
  • Biopsy
  • Calcinosis / etiology
  • Diagnosis, Differential
  • Female
  • Hemangioma / etiology
  • Hemangioma / pathology
  • Humans
  • Infant
  • Kidney / pathology
  • Kidney Diseases / diagnosis
  • Kidney Diseases / etiology*
  • Kidney Diseases / genetics
  • Kidney Function Tests
  • Kidney Neoplasms / etiology
  • Kidney Neoplasms / pathology
  • Lipoma / etiology
  • Lipoma / pathology
  • Male
  • Middle Aged
  • Pedigree
  • Polycystic Kidney Diseases / diagnosis
  • Sebaceous Gland Neoplasms / etiology
  • Skin Neoplasms / etiology
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / genetics