Disease Information for Pyruvate kinase deficiency RBC's

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Clinical Manifestations
Signs & Symptoms
Anemia symptoms/chronic
Jaundice of newborn
Splenomegaly
Pallor
Short stature
Short stature Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Anemia
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Microbiology & Serology Findings
Reticulocytosis
Microlab/Blood smear Geimsa stain /abnormal
Abnormal Lab Findings (Non Measured)
Bite cells/RBC (Lab)
Blister cells/RBC (Lab)
Burr cells on smear (Lab)
Enzyme Assay plasma/tissue/fibroblast abnormal
Heinz bodies RBC (Lab)
Heinz Body Prep/RBCs Positive
Normocytic anemia
Normocytic Anemia/High Retic count
Normocytic/Normochromic Anemia (Lab)
RBC Specific Enzyme assay abnormal (Lab)
Abnormal Lab Findings - Decreased
Hematocrit (Lab)
Hemoglobin (Lab)
RBC/Red Blood Count (Lab)
Abnormal Lab Findings - Increased
Bilirubin, serum (Lab)
Indirect bilirubin (Lab)
Polychrome RBCs (Lab)
RBC/2,3 Diphosphoglycerate
Reticulocytes (Lab)
Diagnostic Test Results
Pathology
Bone Marrow/Hypercellular
Isotope Scan
Isotope/RBC Cr tagged Decreased Survival
X-RAY
Xray/Skull 'hair-on-end' pattern
Associated Diseases & Rule outs
Rule Outs
Hemolytic anemia/autoimmune
Paroxysmal cold hemoglobinuria
Associated Disease & Complications
Anemia
Aplastic crisis/hematologic
Bilirubinemia
Hemolysis anemia/acute/active
Hemolytic anemia, congenital
Hereditary non-spherocytic hemolytic anemia
Kernicterus
Neonatal hyperbilirubinemia
Pyruvate kinase deficiency RBCs
RBC Membrane enzyme defects
Disease Synergy - Causes
Synergy/Parvovirus B19 marrow/effect
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Erythrocyte disorder (ex)
CLASS/Hematologic (category)
CLASS/Intrinsic RBC abnormality (ex)
Pathophysiology
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Bilirubinemia/neonatal/kernicterus risk
Pathophysiology/Erythrocyte membrane disorder
Pathophysiology/Hemolytic process/effect
Pathophysiology/Non-immune hemolytic anemia
Pathophysiology/RBC early senescence/exhaustion
Pathophysiology/RBC Hexose-monophosphate shunt (ex)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
anemia deficiency PK, anemia deficiency pyruvate kinase, anemia pyruvate kinase deficiency, deficiency anemia PK, deficiency anemia pyruvate kinase, deficiency pyruvate kinase anemia, Haemolytic anaemia due to pyruvate kinase deficiency, Hemolytic anemia due to pyruvate kinase deficiency, Hemolytic anemia due to pyruvate kinase deficiency (disorder), Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to pyruvate kinase deficiency, Hereditary nonspherocytic hemolytic anemia (HNSHA) due to pyruvate kinase deficiency, Hereditary nonspherocytic hemolytic anemia (HNSHA) due to pyruvate kinase deficiency (disorder), HNSHA due to pyruvate kinase deficiency, HNSHA due to pyruvate kinase deficiency (disorder), kinase pyruvate deficiency anemia, PK deficiency anaemia, PK deficiency anemia, Pyruvate kinase defic anaemia, Pyruvate kinase defic anemia, Pyruvate kinase deficiency anaemia, pyruvate kinase deficiency anemia, Synonym/Dacie type II hemolytic anemia
Definition
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External Links Related to Pyruvate kinase deficiency RBC's
Google
Wikipedia
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Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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