title: Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance.
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.
authors.affiliation: II Divisione Pediatria, Istituto G. Gaslini, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: DiRocco
authors.forename: G
authors.initials: G
authors.lastname: Garibotto
authors.forename: G A
authors.initials: GA
authors.lastname: Rossi
authors.forename: U
authors.initials: U
authors.lastname: Caruso
authors.forename: A
authors.initials: A
authors.lastname: Taccone
authors.forename: P
authors.initials: P
authors.lastname: Picco
authors.forename: C
authors.initials: C
authors.lastname: Borrone
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism; D000743:Anemia, Hemolytic / Q000209:etiology* / Q000628:therapy; D001855:Bone Marrow Diseases / Q000209:etiology* / Q000628:therapy; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000209:etiology* / Q000628:therapy; D008239:Lysine / Q000378:metabolism*; D008297:Male; D011379:Prognosis; D011658:Pulmonary Fibrosis / Q000209:etiology* / Q000628:therapy; D013997:Time Factors
chemical_list: D008239:Lysine