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 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.