Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course

Study objective: To evaluate phenotypic variability of lysinuric protein intolerance in a cohort of nine Italian patients. Design: Retrospective analysis of patient records. Subjects: Nine Italian patients (seven independent families), all originating from southern Italy, observed during the last 14...

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Bibliographic Details
Published in:The Journal of pediatrics 1995-02, Vol.126 (2), p.246-251
Main Authors: Parenti, Giancarlo, Sebastio, Gianfranco, Strisciuglio, Pietro, Incerti, Barbara, Pecoraro, Carmine, Terracciano, Luigi, Andria, Generoso
Format: Article
Language:English
Subjects:
Adolescent
Amino Acid Metabolism, Inborn Errors - complications
Amino Acid Metabolism, Inborn Errors - diagnosis
Amino Acid Metabolism, Inborn Errors - pathology
Amino Acid Metabolism, Inborn Errors - urine
Aminoacid disorders
Biological and medical sciences
Biopsy
Bone Marrow - pathology
Bone Marrow Diseases - diagnosis
Bone Marrow Diseases - etiology
Bone Marrow Diseases - pathology
Bone Marrow Diseases - urine
Child
Child, Preschool
ENFANT
Errors of metabolism
FAMILIA
FAMILLE
Female
GENETICA
GENETIQUE
Humans
Infant
ITALIA
ITALIE
Italy
Kidney - pathology
Lung - pathology
Lysine - urine
Male
Medical sciences
MEDULA OSEA
Metabolic diseases
METABOLISME DES PROTEINES
METABOLISMO PROTEICO
MOELLE OSSEUSE
NINOS
PATHOGENESE
PATOGENESIS
Retrospective Studies
TRASTORNOS
TROUBLE
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Summary:Study objective: To evaluate phenotypic variability of lysinuric protein intolerance in a cohort of nine Italian patients. Design: Retrospective analysis of patient records. Subjects: Nine Italian patients (seven independent families), all originating from southern Italy, observed during the last 14 years. Results: Some of the patients had unique clinical features, including bone marrow abnormalities featuring erythroblastophagocytosis (five patients) and acute pancreatitis (two patients). Severe complications, known to affect the clinical course and the outcome of the disease, have also been observed: respiratory involvement was present in five cases, with a lethal picture of "alveolar proteinosis" in one. Severe kidney involvement, with both glomerular and tubular damage and rapidly progressing to chronic renal failure, has been observed in one case. Conclusion: Lysinuric protein intolerance may cause severe multisystem involvement, which requires early and careful monitoring. Some peculiar clinical findings observed in Italian patients point to a genetic heterogeneity of lysinuric protein intolerance. (J P EDIATR 1995;126:246-51)
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(95)70552-X