Skip to main content
Log in

Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance

European Journal of Pediatrics Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

LPI:

lysinuric protein intolerance

References

  1. Andria G, Battaglia A, Sebastio G, Strisciuglio P, Auricchio S (1977) Lysinuric protein intolerance. Riv Ital Pediatr 2:386

    Google Scholar 

  2. Di Rocco M, Cerone R, Caruso U (1984) Intolleranza alle proteine con lisinuria: un caso di difficile inquadramento diagnostico. Riv Ital Pediatr 10:95–97

    Google Scholar 

  3. Hallman M, Maasilta P, Sipila I, Tahvanainen J (1989) Composition and function of pulmonary surfactant in adult respiratory distress syndrome. Eur Respir J [Suppl] 3:104s-108s

    Google Scholar 

  4. Kaltenbach JP, Carone FA, Gante CE (1982) Compounds protective against renal tubular necrosis induced by D-serine and D-2,3 diaminopropionic acid in the rat. Exp Mol Pathol 37:225–234

    PubMed  Google Scholar 

  5. Levey AS, Madaio MP, Perrone RD (1991) Laboratory assessment of renal diseases: clearance, urinalysis and renal biopsy. In: Brenner BM, Brenner FC (eds) The kidney, 4th edn. WB Saunders, Philadelphia, pp 919–968

    Google Scholar 

  6. Mogensen CE, Solling K (1977) Studies on tubular protein absorption: partial and near complete inhibition by certain amino acids. Scand J Clin Lab Invest 37:477–486

    PubMed  Google Scholar 

  7. Rajantie J, Simell O, Perheentupa J, Siimes MA (1980) Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance. Acta Paediatr Scand 69:741–745

    PubMed  Google Scholar 

  8. Rogers LE, Porter FS (1968) Ereditary orotic aciduria II. A urinary screening test. Pediatrics 42:42

    Google Scholar 

  9. Simell O, Perheentupa J, Rapola J, Visakorpi JK, Eskelin LE (1975) Lysinuric protein intolerance. Am J Med 59:229–240

    PubMed  Google Scholar 

  10. Simell O (1989) Lysinuric protein intertolerance and other cationic aminoacidurias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw Hill, New York, pp 2497–2513

    Google Scholar 

  11. Smith DW, Scriver CR, Tenehouse HS, Simell O (1987) Lysinuric protein intolerance mutation is expressed in the plasma membrane of culture skin fibroblast. Proc Natl Acad Sci 84:7711–7715

    PubMed  Google Scholar 

  12. Wachstein M (1947) Nephrotoxic action of dl-serine in the rat. Arch Pathol 43:503–514

    Google Scholar 

  13. Wachstein M, Meisel E (1951) Nephrotoxic action of dl-ethionine. Proc Soc Exp Biol Med 77:648–651

    PubMed  Google Scholar 

  14. Zager RA, Joahnnes G, Tuttle SE, Sharma HM (983) Acute amino acid nephrotoxicity. J Lab Clin Med 11:130–140

    Google Scholar 

  15. Zager RA, Venkatachalam MA (1983) Potentiation of ischemic renal injury by amino acid infusion. Kidney Int 24:620–625

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

DiRocco, M., Garibotto, G., Rossi, G.A. et al. Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance. Eur J Pediatr 152, 437–440 (1993). https://doi.org/10.1007/BF01955906

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01955906

Key words

Navigation