Familial cryptogenic fibrosing pleuritis with Fanconi's syndrome (renal tubular acidosis). A new syndrome

Chest. 1995 Feb;107(2):576-8. doi: 10.1378/chest.107.2.576.


We describe two siblings with a progressive unrelenting and unique syndrome of bilateral fibrosing pleuritis of unknown cause occurring in association with Fanconi's syndrome (renal tubular acidosis). The parents of the siblings were second cousins. Both siblings had identical pleural histologic characteristics and identical urinary metabolic defects. This condition resulted in the development of severe respiratory failure in both patients and ultimately the death of the older sibling at the age of 21 years.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Renal Tubular / complications*
  • Acidosis, Renal Tubular / genetics
  • Adolescent
  • Adult
  • Fanconi Syndrome / complications*
  • Fanconi Syndrome / genetics
  • Female
  • Fibrosis
  • HLA-B Antigens / analysis
  • HLA-B44 Antigen
  • Humans
  • Male
  • Pleurisy / complications*
  • Pleurisy / genetics
  • Pleurisy / pathology
  • Respiratory Insufficiency / etiology


  • HLA-B Antigens
  • HLA-B44 Antigen