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Pyrimidine-5-Nucleotidase Deficiency

Pyrimidine 5-Nucleotidase Deficiency


Presentation

  • The present report documents that lead-induced deficiency when sufficiently severe gives rise to findings similar to the hereditary disorder.[ncbi.nlm.nih.gov]
  • A drastic inhibition of stimulated HMS activity was already present in the lightest red-cell fractions from patient 1, who presented a more severe haemolytic anaemia.[ncbi.nlm.nih.gov]
  • We present 2 Norwegian siblings who we believe to be the first cases of pyrimidine 5'-nucleotidase deficiency diagnosed in the Scandinavian countries.[ncbi.nlm.nih.gov]
  • Abstract Two siblings with chronic hemolytic anemia due to red cell pyrimidine-5'-nucleotidase (P-5'-N) deficiency, presented within a few days of each other with a febrile illness and pancytopenia.[ncbi.nlm.nih.gov]
  • A rationalisation of the 1350 boxes used throughout the book gives a simpler and clearer presentation of the various categories.[books.google.com]
Generalized Lymphadenopathy
  • Persistent generalized lymphadenopathy' Group IV. Other disease Subgroup A Constitutional disease Subgroup B. Neurologic disease Subgroup C. Secondary infectious diseases Category C-1. ‏[books.google.com]
Epigastric Pain
Formication
  • The column was washed with 50 ml of water to remove free [3H]glycine and eluted with a 50-ml linear gradient of 0-4 N formic acid.[docslide.us]

Workup

Poikilocytosis
  • The peripheral blood smears showed the presence of basophilic stippling, tear drop cells, target cells, hypochromasia and aniso-poikilocytosis.[omicsonline.org]
Liver Biopsy
  • Both patients developed gallstones; however the father, who had undergone surgery for the removal of stones, had extremely severe intrahepatic cholestasis and, liver biopsy revealed fibrosis and siderosis grade III, leading us to believe that the homozygosity[repositorio.unicamp.br]
Bone Marrow with Erythroid Hyperplasia
  • marrow, marked erythroid hyperplasia; red cell half-life using SiCr, 18.6 days (normal is 26--30 days).[docslide.com.br]

Treatment

  • This provides scope for new therapeutic approaches; treatment with allopurinol, however, was found to result in an increase, rather than a decrease, in erythrocyte pyrimidine nucleotides.[ncbi.nlm.nih.gov]
  • However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways.[books.google.com]
  • The mild haemolytic anaemia requires no treatment as a rule.[ntvg.nl]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Etiology

  • The findings indicate that the hemolytic anemia and increased basophilic stippling characteristic of certain cases of lead intoxication may share a common etiology with essentially identical features of the genetically determined disorder.[ncbi.nlm.nih.gov]
  • The findings indicate that the hemolytic anemia and increased basophilic stippling characteristic of certain cases of lead intoxication may share a common etiology with essentially identical features of the genetically determined disorder. Images.[jci.org]
  • The findings show that the hemolytic anemia and increased basophilic stippling characteristic of certain cases of lead intoxication may share a common etiology with essentially same features of the genetically determined disorder.[omicsonline.org]

Epidemiology

  • Questions 14-17 For each epidemiologic concept listed below, select the term that most appropriately describes it. ‏ الصفحة 172 - Group I. Acute infection Group II. Asymptomatic infection' Group III. Persistent generalized lymphadenopathy' Group IV.[books.google.com]
Sex distribution
Age distribution

Pathophysiology

  • These observations may have important implications for the better understanding of the pathophysiology of Hb E/beta-thalassemia, globally the commonest important form of thalassemia.[ncbi.nlm.nih.gov]
  • Useful For Suggests clinical disorders or settings where the test may be helpful Evaluation of persistent reticulocytosis and marked basophilic stippling Evaluation of hemolytic anemia Clinical Information Discusses physiology, pathophysiology, and general[mayomedicallaboratories.com]
  • In β thalassaemia intermedia and major, P5′N‐1 activity is hard to assess because of the reticulocytosis and circulating erythroblasts, although DNA analysis offers some hope of ascertaining the role of P5′N‐1 in the pathophysiology of these disorders[onlinelibrary.wiley.com]

Prevention

  • References American Academy of Pediatrics Committee on Environmental Health (2005) Lead exposure in children: prevention, detection, and management. Pediatrics 116: 1036-1046.[omicsonline.org]
  • It is thought to be particularly important during the reticulocyte stage, when its activity prevents the accumulation of nucleotides resulting from the breakdown of ribosomes and RNA.[onlinelibrary.wiley.com]
  • Thus, the enzyme, whose activity is thought to be particularly important during the reticulocyte stage, is essential to prevent the accumu- lation of pyrimidine nucleotides within RBC.[docslide.net]
  • Finally, our findings highlight the importance of screening for BLL in Iranian opium-addicted patients to prevent complications related to lead exposure. Financial support and sponsorship Nil.[ijpvmjournal.net]
  • ., J Atheroscler Thromb, 198(2):176-185, 2012 Matsushima T, Nakaya N, Mizuno K, Ohashi Y, Teramoto T, Yokoyama S, Ichikawa S, Ishikura N, Kamiyama K, Nakamura H; MEGA Study Group The effect of low-dose pravastatin in metabolic syndrome for primary prevention[www2.med.teikyo-u.ac.jp]

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