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

J Pediatr. 1995 Feb;126(2):246-51. doi: 10.1016/s0022-3476(95)70552-x.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • 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
  • Biopsy
  • Bone Marrow / pathology
  • Bone Marrow Diseases / diagnosis*
  • Bone Marrow Diseases / etiology
  • Bone Marrow Diseases / pathology
  • Bone Marrow Diseases / urine
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Italy
  • Kidney / pathology
  • Lung / pathology
  • Lysine / urine*
  • Male
  • Retrospective Studies


  • Lysine

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