[Hemolytic anemia caused by pyrimidine 5'-nucleotidase (P5N) deficiency 15 years later. Apropos of 2 new cases of hereditary deficit and another one of lead poisoning].
Congenital pyrimidin 5'nucleotidase deficiency manifests as hemolytic anemia with basophilic stippling. In lead poisoning, anemia, basophilic stippling and inhibition of erythrocyte pyrimidin 5' deficiency are also observed. In the present work, we report two cases of hemolytic anemia secondary to congenital deficiency of pyrimidin 5' nucleotidase and another case secondary to lead poisoning. Since 1974, when pyrimidin 5' nucleotidase deficiency was isolated, is known that hemolysis is related to the accumulation of pyrimidin nucleotides within the erythrocytes that behave as metabolic inhibitors. However, the precise metabolic process whose inhibition leads to the shortening of erythrocytes half life has not been elucidated yet.
de la Serna
F J
FJ
Gilsanz
F
F
Ricard
P
P
Urrutia
A
A
D015720:5'-Nucleotidase / Q000172:deficiency*; D000368:Aged; D000743:Anemia, Hemolytic / Q000139:chemically induced / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D005190:Family; D006801:Humans; D007855:Lead Poisoning / Q000150:complications*; D008297:Male; D008875:Middle Aged; D013997:Time Factors
D015720:5'-Nucleotidase
Anemia hemolítica por déficit de pirimidina 5'nucleotidasa (P5N) 15 años después. A propósito de 2 nuevos casos de déficit hereditario y otro de intoxicación por plomo.