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[Pyrimidine-5'-nucleotidase deficiency--congenital hemolytic anemia with basophilic stippling of erythrocytes].

Abstract
The disease is caused by a deficiency of the enzyme pyrimidine-5'-nucleotidase in the erythrocytes. About 50 cases have been published. We have diagnosed the disease in a pair of siblings from Numedal, Norway. Although this is a rare disorder it has a world-wide distribution. It is inherited as an autosomal recessive disease, and with genetic heterogeneity. In studies of iron balance we have found increased excretion of iron and hemoglobin in the urine, and free hemoglobin in plasma, indicating extravascular hemolysis. Kidney biopsy shows iron depositions in epithelial cells in proximal kidney tubules, localized to lysosomes. An evaluation by ordinary clinical examinations and laboratory tests do not indicate a progression of the disease over a ten-year period.
AuthorsM Seip
JournalTidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke (Tidsskr Nor Laegeforen) Vol. 119 Issue 20 Pg. 2996-8 (Aug 30 1999) ISSN: 0029-2001 [Print] Norway
Vernacular TitlePyrimidin-5'-nukleotidasemangel--medfødt hemolytisk anemi med basofilt punkterte røde blodceller.
PMID10504847 (Publication Type: Case Reports, English Abstract, Journal Article)
Chemical References
  • 5'-Nucleotidase
Topics
  • 5'-Nucleotidase (deficiency)
  • Adult
  • Anemia, Hemolytic, Congenital (blood, diagnosis, enzymology, genetics)
  • Erythrocytes (enzymology)
  • Female
  • Follow-Up Studies
  • Humans
  • Male

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