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Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course
G Parenti1, G Sebastio, P Strisciuglio
1Department of Pediatrics, Federico II University, Naples, Italy.
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 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.