Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance

M. DiRocco, G. Garibotto, G. A. Rossi, U. Caruso, A. Taccone, P. Picco, C. Borrone

Research output: Contribution to journalArticle

Abstract

Three patients with lysinuric protein intolerance are reported. The first patient displayed severe haemolytic anaemia, bone marrow erythroblastophagocytosis, renal tubular disease and interstitial lung disease. Despite treatment with citrulline and low-protein diet, this child died at the age of 18 months. The second patient is now 24 years old and has chronic interstitial lung disease and focal renal glomerulosclerosis. The third patient, now 5 years old, has severe chronic interstitial lung disease. A 6-month treatment with prednisone was ineffective in the second and third patients.

Original languageEnglish
Pages (from-to)437-440
Number of pages4
JournalEuropean Journal of Pediatrics
Volume152
Issue number5
DOIs
Publication statusPublished - May 1993

Keywords

  • Erythroblastophagocytosis
  • Interstitial lung disease
  • Lysinuric protein intolerance
  • Renal disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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