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

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...

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Bibliographic Details
Published in:European journal of pediatrics 1993-05, Vol.152 (5), p.437-440
Main Authors: DIROCCO, M, GARIBOTTO, G, ROSSI, G. A, CARUSO, U, TACCONE, A, PICCO, P, BORRONE, C
Format: Article
Language:English
Subjects:
Adolescent
Amino Acid Metabolism, Inborn Errors - complications
Amino Acid Metabolism, Inborn Errors - metabolism
Aminoacid disorders
Anemia, Hemolytic - etiology
Anemia, Hemolytic - therapy
Biological and medical sciences
Bone Marrow Diseases - etiology
Bone Marrow Diseases - therapy
Child, Preschool
Errors of metabolism
Humans
Infant
Kidney Diseases - etiology
Kidney Diseases - therapy
Lysine - metabolism
Male
Medical sciences
Metabolic diseases
Prognosis
Pulmonary Fibrosis - etiology
Pulmonary Fibrosis - therapy
Time Factors
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF01955906