Blood Work: a Complete Guide for Monitoring

Total Page:16

File Type:pdf, Size:1020Kb

Blood Work: a Complete Guide for Monitoring BLOOD WORK: A COMPLETE GUIDE FOR MONITORING HIV PUBLISHED BY JANUARY 2011 Lab tests, or blood work, can give im­ Nearly all lab reports make it portant clues about your overall health simpler to understand test results and HIV disease. Many of these tests by including a “normal” range, should be done shortly after learning or high and low values. The results that you’re HIV-positive. This will establish that fall outside normal ranges are likely a “baseline” measure of your immune health and show the most important ones. Those that are above or below how active HIV is. Knowing this information will help normal are often highlighted on your lab report by you watch for changes in your health over time as well being bolded, printed in a different color or printed in as check the impact of any treatments that you take. a different column. Factors such as age, gender, stress, medicines, active It is your right to have and keep copies of all of your infections and others can all affect these test results. Lab medical records. You can then keep track of your results results should be considered with these factors in mind. to look for overall trends. Ask for and keep copies of your Understanding your test results may seem difficult lab reports, and make a chart or table of them to note at first. However, they can help you take charge of your trends or changes. For examples of these charts, read health and understand why your doctor prescribes Project Inform’s publication, Personal Tracking Charts, certain tests and medicines. With practice over time, it available at 1-800-822-7422 or www.projectinform.org. becomes easier to understand these results. WHAT’S INSIDE Complete blood count: 3; Platelet count: 3; What do CD4+ cell counts mean?: 3; Red blood cells: 4; White blood cells: 5; Chemistry screen: 6–7; Lymphocyte subsets and viral load: 8–9; Resistance tests: 9; Other tests that may be done: 10; Table of common tests and ranges: 11; Interpreting your viral load numbers: 12. © PROJECT INFORM 1375 MISSION STREET SAN FRANCISCO, CA 94103 -2621 415 -558 -8669 FAX 415 -558 -0684 SUPPORT@PROJECTINFORM.ORG WWW.PROJECTINFORM.ORG Although this publication may seem long and involved, it gives a thorough background to the types of tests that you may need to take over time. There are 5 key points to keep in mind when reading this material: 3 Different labs can get different results from 1 2 the same blood sample because they use different methods or equipment. If for some “Normal” test values can No single test result provides reason you cannot use the same lab, you differ. For example, lower all the answers. Most results may need to establish a new baseline at the cholesterol values may need to be considered along new lab. In the case of viral load tests, try be considered normal in with other reports and within to have the same type of test (bDNA, PCR, an HIV-positive person the context of your overall etc.) done each time. If your doctor sends not on HIV treatment. Be health. you to the same place to give blood for test­ 2 sure to discuss these dif­ ing, it’s likely the same labs and types of tests ferences with your doctor. are being used. If you move or if you change Test results outside the lab’s doctors or health plans, it’s a good idea to “normal” range may not be check and see if your lab has changed as cause for alarm. well. If you ever see dramatic changes in your lab results, you might ask your doctor 4 if the lab or type of test have changed. Several things can impact your test results. For example, they can vary due to the time of day your blood is drawn. If possible, try to schedule blood draws 5 at the same time of day every time. If you’re sick or have an infection, like a cold or flu, these can also affect your test results. You may want to wait to have A dramatic change in results lab work done or repeat the tests after you’ve become well again. Getting a flu may be due to testing errors. B L O O D O K O R M L O T R B W C O . E F J N O I R P shot or other vaccination can also alter lab results, as it stimulates the immune As for CD4 cell counts and system and can increase how active HIV becomes. HIV levels usually return to HIV levels, it’s wise to have “baseline” within a month after a vaccination. the test run again and to not make therapy decisions from any one test result. TOLL -FREE HIV HEALTH INFOLINE 1 -800 -822 -7422 LOCAL & INTERNATIONAL 415 -558 -9051 MONDAY– FRIDAY 10 –4 PACIFIC TIME Complete blood count (CBC) Above 500 CD4+ cells The CBC is the most common blood test that doctors order. It checks › No unusual conditions likely. levels of white blood cells, red blood cells and platelets. Generally, Emphasize good health habits even people without symptoms of HIV disease should have a CBC and health care maintenance, including vaccines and nutrition. test done at least every 6–12 months. People whose blood work trends are changing may want to have their CBCs done every three 200–500 CD4+ cells B L O O D W O R K . P R O J E C T I N F O R M months, or more often. People with symptoms of HIV disease should › Increased risk for shingles have a CBC every 3–6 months. (zoster), thrush (candida), skin CBC testing is done more often in people with symptoms of low infections, bacterial sinus and red blood cells (anemia), low white blood cells (leukopenia) and low lung infections, and TB. platelets (thrombocytopenia). In each case, if a change occurs that › Life-threatening OIs (such as PCP, MAC and CMV) are rare. worries you or your doctor, the tests should be done again a few weeks HIV treatment is generally sug- later. Of the tests explained in this publication, the most important › gested at 300-500 CD4s and ones are the red blood cell, white blood cell and platelet counts. recommended when CD4 cell counts falls to 200 to 350. Platelet count 50–200 CD4+ cells Platelets are the part of the blood that helps it to clot. They travel Increased risk for PCP and to the site of an injury where they “stick” and help develop a clot or › 3 other life-threatening OIs. scab to stop the bleeding. A normal count is 150,000–440,000. A low › Preventive treatment for PCP count can be caused by HIV infection or by some drugs. is indicated. Although a platelet count below 150,000 is considered low, most › If counts are below 100, con- people are not at risk of uncontrolled bleeding with counts of 50,000 sider preventive treatment for or even lower. However, because platelets are necessary for blood MAC, CMV and invasive fungal infections. clotting, the chance of major bleeding rises as the platelet count drops. If your platelet count is very low (in the 10,000 range) and/or Below 50 CD4+ cells you have symptoms related › Increased risk for OIs, includ- to thrombocytopenia, your ing MAC and CMV. doctor may want to change › Continue preventive medica- your treatment, or may teach tions. you special ways to prevent bleeding. © PROJECT INFORM 1375 MISSION STREET SAN FRANCISCO, CA 94103 -2621 415 -558 -8669 FAX 415 -558 -0684 SUPPORT@PROJECTINFORM.ORG WWW.PROJECTINFORM.ORG Red blood cells: the oxygen carriers Red Blood Cell (RBC) Count RBCs are produced in your bone marrow, and they carry oxygen and carbon dioxide through your body. The RBC count is the number of red blood cells found in a small amount of blood called a cubic milliliter, or mL. Normal levels for men range from 4.5–6.1 million/mL, and for women 4.0–5.3 million/mL. It’s not uncommon for people with HIV to have RBC values below normal. Hematocrit Slightly lower values should not be cause for alarm. The hematocrit is another way to measure RBCs. It is the However, greatly lower numbers can be a sign of anemia. percentage of blood cells in your body that are red blood Symptoms include fatigue, shortness of breath, pale skin cells. Normal values range in men from 40–54% and in color and menstrual problems. Anemia can be caused by women 37–47%. Hematocrit values indicate the thickness some medicines and/or illness. Low RBC counts occur of the blood as well as its ability to carry oxygen. A low with lower hemoglobin and hematocrit levels. Anemia hematocrit also indicates anemia. 4 may be treated with iron supplements, erythropoietin (Epogen) or in severe instances, a blood transfusion. Mean Corpuscular Volume (MCV) The MCV measures the average size of red blood cells. Hemoglobin The average MCV ranges from 80–100 femtoliters (fL). Hemoglobin is a RBC protein that carries oxygen through A low MCV shows that cells are smaller than normal. the body. Normal levels in women are 12–16 grams per This may be due to an iron deficiency or chronic disease. deciliter (g/dl) and in men 14–18g/dl. It’s not uncom­ MCV is generally higher than normal in people taking mon for people with HIV to have lower than normal Retrovir (zidovudine, AZT) or in people with vitamin hemoglobin levels.
Recommended publications
  • Blood, Lymph, and Immunity Joann Colville
    Blood, Lymph, and Immunity Joann Colville CHAPTER OUTLINE .»: BLOOD Function Introduction Lymphatic Structures Plasma THE IMMUNE SYSTEM Cellular Components of Blood Function Red Blood Cells Immune Reactions Platelets Immunization: Protection Against Disease White Blood Cells THE LYMPHATICSYSTEM Lymph Formation Characteristics LEARNING OBJECTIVES • List and describe the functions of blood • List the functions of the lymphatic system • Describe the composition of blood plasma • Describe the structure and functions of the lymph nodes, • Describe the characteristics of mature erythrocytes spleen, thymus, tonsils, and GALT Describe the structure of the hemoglobin molecule and • List the functions of the immune system explain the fate of hemoglobin following intravascular and • Differentiate between specific and nonspecific immune extravascular hemolysis reactions • Give the origin of thrombocytes and describe their • Differentiate between cell-mediated and humoral immunity characteristics and functions • List the components involved in cell-mediated immunity • Listthe types of leukocytes and describe the functions of each and explain the role of each • Describe the formation of lymph fluid and its circulation List and describe the classes of immunoglobulins through the lymphatic system • Differentiate between active and passive immunity BLOOD vessels of the cardiovascular system. It has three main func- tions: transportation, regulation, and defense. INTRODUCTION Blood. Say the word, and some people cringe, others faint, Function and if you believe authors Bram Stoker, Stephen King, and 1. Blood is a transport system. Christopher Moore (all authors of vampire books), others • It carries oxygen, nutrients, and other essential com- drool. But no matter what you think about blood, animals pounds to every living cell in the body.
    [Show full text]
  • The Diagnosis of Paroxysmal Nocturnal Hemoglobinuria: Role of Flow Cytometry
    THE DIAGNOSIS OF PAROXYSMAL NOCTURNAL HEMOGLOBINURIA: ROLE OF FLOW CYTOMETRY Alberto Orfao Department of Medicine, Cancer Research Centre (IBMCC-CSIC/USAL), University of Salamanca, Salamanca, Spain Paroxysmal nocturnal hemoglobinuria (PNH) on one or multiple populations of peripheral blood is an acquired clonal disorder typically affecting red cells and/or leucocytes of PNH patients, this young adults, which involves the phosphatidylino- translating into a new diagnostic test. Because sitol glycan anchor biosynthesis class A gene of this flow cytometry became an essential tool (PIGA) coded in chromosome X, in virtually every in the diagnosis of PNH. In turn, it could be also case. The altered gene encodes for a defective pro- demonstrated that investigation of the presence of tein product, the pig-a enzyme which is involved GPI-deficient cells among circulating mature neu- in the early steps of the synthesis of glycosylphos- trophils and monocytes, increases the sensitivity phatidylinositol (GPI). This later molecule (GPI) of red blood cell screening because of the shorter acts as an anchor of a wide range of proteins to lifetime of both populations of leucocytes. Despite the cell surface. At present a large number of GPI- all the above, routine assessment of CD55 and anchor associated proteins have been described CD59 is also associated with several limitations which are expressed by one or multiple distinct due to distinct patterns of expression among dif- compartments of hematopoietic cells. The altered ferent cell populations, dim and heterogeneous PIGA gene leads to an altered GPI anchor which expression among normal individuals and the lack leads to defective expression of GPI-AP on the of experience in many labs as regards the normal cytoplasmic membrane, on the cell surface.
    [Show full text]
  • Section 8: Hematology CHAPTER 47: ANEMIA
    Section 8: Hematology CHAPTER 47: ANEMIA Q.1. A 56-year-old man presents with symptoms of severe dyspnea on exertion and fatigue. His laboratory values are as follows: Hemoglobin 6.0 g/dL (normal: 12–15 g/dL) Hematocrit 18% (normal: 36%–46%) RBC count 2 million/L (normal: 4–5.2 million/L) Reticulocyte count 3% (normal: 0.5%–1.5%) Which of the following caused this man’s anemia? A. Decreased red cell production B. Increased red cell destruction C. Acute blood loss (hemorrhage) D. There is insufficient information to make a determination Answer: A. This man presents with anemia and an elevated reticulocyte count which seems to suggest a hemolytic process. His reticulocyte count, however, has not been corrected for the degree of anemia he displays. This can be done by calculating his corrected reticulocyte count ([3% × (18%/45%)] = 1.2%), which is less than 2 and thus suggestive of a hypoproliferative process (decreased red cell production). Q.2. A 25-year-old man with pancytopenia undergoes bone marrow aspiration and biopsy, which reveals profound hypocellularity and virtual absence of hematopoietic cells. Cytogenetic analysis of the bone marrow does not reveal any abnormalities. Despite red blood cell and platelet transfusions, his pancytopenia worsens. Histocompatibility testing of his only sister fails to reveal a match. What would be the most appropriate course of therapy? A. Antithymocyte globulin, cyclosporine, and prednisone B. Prednisone alone C. Supportive therapy with chronic blood and platelet transfusions only D. Methotrexate and prednisone E. Bone marrow transplant Answer: A. Although supportive care with transfusions is necessary for treating this patient with aplastic anemia, most cases are not self-limited.
    [Show full text]
  • A Rapid and Quantitative D-Dimer Assay in Whole Blood and Plasma on the Point-Of-Care PATHFAST Analyzer ARTICLE in PRESS
    MODEL 6 TR-03106; No of Pages 7 ARTICLE IN PRESS Thrombosis Research (2007) xx, xxx–xxx intl.elsevierhealth.com/journals/thre REGULAR ARTICLE A rapid and quantitative D-Dimer assay in whole blood and plasma on the point-of-care PATHFAST analyzer Teruko Fukuda a,⁎, Hidetoshi Kasai b, Takeo Kusano b, Chisato Shimazu b, Kazuo Kawasugi c, Yukihisa Miyazawa b a Department of Clinical Laboratory Medicine, Teikyo University School of Medical Technology, 2-11-1 Kaga, Itabashi, Tokyo 173-8605, Japan b Department of Central Clinical Laboratory, Teikyo University Hospital, Japan c Department of Internal Medicine, Teikyo University School of Medicine, Japan Received 11 July 2006; received in revised form 7 December 2006; accepted 28 December 2006 KEYWORDS Abstract The objective of this study was to evaluate the accuracy indices of the new D-Dimer; rapid and quantitative PATHFAST D-Dimer assay in patients with clinically suspected Deep-vein thrombosis; deep-vein thrombosis (DVT). Eighty two consecutive patients (34% DVT, 66% non-DVT) Point-of-care testing; with suspected DVT of a lower limb were tested with the D-Dimer assay with a Chemiluminescent PATHFAST analyzer. The diagnostic value of the PATHFAST D-Dimer assay (which is immunoassay based on the principle of a chemiluminescent enzyme immunoassay) for DVT was evaluated with pre-test clinical probability, compression ultrasonography (CUS). Furthermore, each patient underwent contrast venography and computed tomogra- phy, if necessary. The sensitivity and specificity of the D-Dimer assay using 0.570 μg/ mL FEU as a clinical cut-off value was found to be 100% and 63.2%, respectively, for the diagnosis of DVT, with a positive predictive value (PPV) and negative predictive value (NPV) of 66.7% and 100%, respectively.
    [Show full text]
  • Chapter 06 Lecture Outline
    Chapter 06 Lecture Outline See separate PowerPoint slides for all figures and tables pre- inserted into PowerPoint without notes. Copyright © 2016 McGraw-Hill Education. Permission required for reproduction or display. 1 Cardiovascular System: Blood © SPL/Science Source, (inset) © Andrew Syred/Science Source 2 Points to ponder • What type of tissue is blood and what are its components? • What is found in plasma? • Name the three formed elements in blood and their functions. • How does the structure of red blood cells relate to their function? • Describe the structure and function of each white blood cell. • What are disorders of red blood cells, white blood cells, and platelets? • What do you need to know before donating blood? • What are antigens and antibodies? • How are ABO blood types determined? • What blood types are compatible for blood transfusions? • What is the Rh factor and how is this important to pregnancy? • How does the cardiovascular system interact with other systems to maintain homeostasis? 3 6.1 Blood: An Overview What are the functions of blood? • Transportation: oxygen, nutrients, wastes, carbon dioxide, and hormones • Defense: against invasion by pathogens • Regulatory functions: body temperature, water- salt balance, and body pH 4 6.1 Blood: An Overview What is the composition of blood? • Remember: blood is a fluid connective tissue. • Formed elements are produced in red bone marrow. – Red blood cells/erythrocytes (RBCs) – White blood cells/leukocytes (WBCs) – Platelets/thrombocytes 5 6.1 Blood: An Overview What is the composition of blood? • Plasma – It consists of 91% water and 9% salts (ions) and organic molecules. – Plasma proteins are the most abundant organic molecules.
    [Show full text]
  • Introduction to Hematological Assessment (PDF)
    UPDATED 01/2021 Introduction to Hematological Assessment Objectives After completing this lesson, you will be able to: • State the main purposes of a hematological assessment. • Explain the procedures for collecting and processing a blood sample. • Understand the importance of hand washing. • Understand the importance of preventing blood borne pathogen transmission. • Describe and follow the hemoglobin test procedure using the Hemocue Hemoglobin Analyzer. Overview The most common form of nutritional deficiency is “iron deficiency”. It is observed more frequently among children and women of childbearing age (particularly pregnant women). Iron deficiency can result in developmental delays and behavioral disturbance in children, as well as increased risk for a preterm delivery in pregnant women. Iron status can be determined using several different types of laboratory tests. The two tests most commonly used to screen for iron deficiency are hemoglobin (Hgb) concentration and hematocrit (Hct). Proper screening for iron deficiency requires sound laboratory methods and procedures. Often, CPAs will hear the following questions: “Do you have to stick my finger? What does this have to do with my WIC foods anyway? Will it hurt?” For most of us, the thought of having blood taken, even from a finger, is not pleasant. However, evaluating the results of a blood test is a part of screening for nutritional risk. Why Does WIC Require Hematological Assessment? WIC requires that each applicant be screened for risk of a medical condition known as iron deficiency anemia. Anemia is a condition of the blood in which the amount of hemoglobin falls below a level considered desirable for good health.
    [Show full text]
  • Your Blood Cells
    Page 1 of 2 Original Date The Johns Hopkins Hospital Patient Information 12/00 Oncology ReviseD/ RevieweD 6/14 Your Blood Cells Where are Blood cells are made in the bone marrow. The bone marrow blood cells is a liquid that looks like blood. It is found in several places of made? the body, such as your hips, chest bone and the middle part of your arm and leg bones. What types of • The three main types of blood cells are the red blood cells, blood cells do the white blood cells and the platelets. I have? • Red blood cells carry oxygen to all parts of the body. The normal hematocrit (or percentage of red blood cells in the blood) is 41-53%. Anemia means low red blood cells. • White blood cells fight infection. The normal white blood cell count is 4.5-11 (K/cu mm). The most important white blood cell to fight infection is the neutrophil. Forty to seventy percent (40-70%) of your white blood cells should be neutrophils. Neutropenia means your neutrophils are low, or less than 40%. • Platelets help your blood to clot and stop bleeding. The normal platelet count is 150-350 (K/cu mm). Thrombocytopenia means low platelets. How do you Your blood cells are measured by a test called the Complete measure my Blood Count (CBC) or Heme 8/Diff. You may want to keep track blood cells? of your blood counts on the back of this sheet. What When your blood counts are low, you may become anemic, get happens infections and bleed or bruise easier.
    [Show full text]
  • Agammaglobulinemia Hypogammaglobulinemia Hereditary Disease Immunoglobulins
    Pediat. Res. 2: 72-84 (1968) Agammaglobulinemia hypogammaglobulinemia hereditary disease immunoglobulins Hereditary Alterations in the Immune Response: Coexistence of 'Agammaglobulinemia', Acquired Hypogammaglobulinemia and Selective Immunoglobulin Deficiency in a Sibship REBECCA H. BUCKLEY[75] and J. B. SIDBURY, Jr. Departments of Pediatrics, Microbiology and Immunology, Division of Immunology, Duke University School of Medicine, Durham, North Carolina, USA Extract A longitudinal immunologic study was conducted in a family in which an entire sibship of three males was unduly susceptible to infection. The oldest boy's history of repeated severe infections be- ginning in infancy and his marked deficiencies of all three major immunoglobulins were compatible with a clinical diagnosis of congenital 'agammaglobulinemia' (table I, fig. 1). Recurrent severe in- fections in the second boy did not begin until late childhood, and his serum abnormality involved deficiencies of only two of the major immunoglobulin fractions, IgG and IgM (table I, fig. 1). This phenotype of selective immunoglobulin deficiency is previously unreported. Serum concentrations of the three immunoglobulins in the youngest boy (who also had a late onset of repeated infection) were normal or elevated when he was first studied, but a marked decline in levels of each of these fractions was observed over a four-year period (table I, fig. 1). We could find no previous reports describing apparent congenital and acquired immunologic deficiencies in a sibship. Repeated infections and demonstrated specific immunologic unresponsiveness preceded gross ab- normalities in the total and fractional gamma globulin levels in both of the younger boys (tables II-IV). When the total immunoglobulin level in the second boy was 735 mg/100 ml, he failed to respond with a normal rise in titer after immunization with 'A' and 'B' blood group substances, diphtheria, tetanus, or Types I and II poliovaccines.
    [Show full text]
  • Hematology Unit Lab 1 Review Material
    Hematology Unit Lab 1 Review Material Objectives Laboratory instructors: 1. Facilitate lab discussion and answer questions Students: 1. Review the introductory material below 2. Study and review the assigned cases and questions in small groups before the Lab. This includes the pathological material using Virtual Microscopy 3. Be prepared to present your cases, questions and answers to the rest of your Lab class during the Lab Erythropoiesis: The process of red blood cell (RBC) production • Characterized by: − Increasing hemoglobin synthesis Erythroid maturation stages (Below): − Decreasing cell size - Average of 4 cell divisions during maturation − Decreasing cytoplasmic basophilia [One pronormoblast gives rise to 16 red cells] (increasing pink color) - pronormoblast → reticulocyte = 7 days − Progressive chromatin condensation of the - reticulocytes → mature RBC =1-2 days nuclei − Extrusion of nucleus (orthochromatic stage) − Extruded nuclei are subsequently phagocytized − Loss of mitotic capability after the early stage of polychromatophilic normoblast • Picture below: Erythroid progenitors (normoblasts) cluster around macrophages (arrows) in the bone marrow and spleen • Macrophages store iron • Iron is transferred from macrophages to erythroid precursor cells • Iron is used by normoblasts for hemoglobin synthesis aka nucleated rbc aka reticulocyte 1 Mature Red Blood Cell 7-8 microns; round / ovoid biconcave disc with orange-red cytoplasm, no RNA, no nucleus; survives ~120 days in circulation Classification of Anemia by Morphology 1.
    [Show full text]
  • CD59: a Long-Known Complement Inhibitor Has Advanced to a Blood Group System
    B LOOD G ROUP R EVIEW CD59: A long-known complement inhibitor has advanced to a blood group system C. Weinstock, M. Anliker, and I. von Zabern The blood group system number 35 is based on CD59, a 20-kDa by Zalman et al.1 from the group of H.J. Muller-Eberhard in La membrane glycoprotein present on a large number of different Jolla, California, and in 1988 by Schönermark et al. from the cells, including erythrocytes. The major function of CD59 is to group of G.M. Hänsch in Heidelberg (Germany).2 This inhibitor protect cells from complement attack. CD59 binds to complement components C8 and C9 and prevents the polymerization of C9, was published under the designations “HRF (homologous which is required for the formation of the membrane attack restriction factor)” and “C8bp (C8 binding protein),” complex (MAC). Other functions of CD59 in cellular immunity respectively, to describe its properties.1,2 “C8bp” indicates the are less well defined. CD59 is inserted into the membrane by a glycosylphosphatidylinositol (GPI) anchor. A defect of this anchor binding capacity for C8. The name “HRF” points to a species causes lack of this protein from the cell membrane, which leads to incompatibility of this “factor” that provides protection from an enhanced sensitivity towards complement attack. Patients with complement attack more effectively in a homologous (e.g., paroxysmal nocturnal hemoglobinuria (PNH) harbor a varying human erythrocytes as a target of human complement) than in percentage of red blood cell clones with a defect in GPI-anchored proteins, including CD59. The most characteristic symptoms of a heterologous system (e.g., human erythrocytes as a target of this disease are episodes of hemolysis and thromboses.
    [Show full text]
  • Ataxia Telangiectasia: a Diagnostic Challenge. Case Report
    case reports 2020; 6(2) https://doi.org/10.15446/cr.v6n2.83219 ATAXIA TELANGIECTASIA: A DIAGNOSTIC CHALLENGE. CASE REPORT Keywords: Ataxia Telangiectasia; Neurodegenerative Diseases; Cerebellar Ataxia; Spinocerebellar Degenerations; Telangiectasia. Palabras clave: Ataxia telangiectasia; Enfermedades neurodegenerativas; Ataxia cerebelosa; Degeneraciones espinocerebelosa; Telangiectasia. Natalia Martínez-Córdoba Universidad Militar Nueva Granada - Faculty of Medicine - Pediatric Neurology Research Group - Bogotá D.C. - Colombia. Hospital Militar Central - Pediatric Neurology Service - Bogotá D.C. - Colombia. Eugenia Espinosa-García Universidad Militar Nueva Granada - Faculty of Medicine - Pediatric Neurology Research Group - Bogotá D.C. - Colombia. Hospital Militar Central - Pediatric Neurology Service - Bogotá D.C. - Colombia. Universidad del Rosario - Medical School - Bogotá D.C. - Colombia. Corresponding author Natalia Martínez-Córdoba. Faculty of Medicine, Universidad Militar Nueva Granada. Bogotá D.C. Colombia. Email: nataliamartinezc@hotmail.com. Received: 28/10/2019 Accepted: 08/01/2020 case reports Vol. 6 No. 2: 109-17 110 RESUMEN ABSTRACT Introducción. La ataxia-telangiectasia (AT) es Introduction: Ataxia-telangiectasia (AT) is a un síndrome neurodegenerativo con baja inciden- neurodegenerative syndrome with low incidence cia y prevalencia mundial que es causado por una and prevalence worldwide, which is caused by a mutación del gen ATM, es de herencia autosó- mutation of the ATM gene. It is an autosomal re- mica recesiva y se asocia a mecanismos defec- cessive disorder that is associated with defective tuosos en la regeneración y reparación del ADN. cell regeneration and DNA repair mechanisms. It Este síndrome se caracteriza por la presencia de is characterized by progressive cerebellar atax- ataxia cerebelosa progresiva, movimientos ocula- ia, abnormal eye movements, oculocutaneous res anormales, telangiectasias oculocutáneas e telangiectasias and immunodeficiency.
    [Show full text]
  • Practice Parameter for the Diagnosis and Management of Primary Immunodeficiency
    Practice parameter Practice parameter for the diagnosis and management of primary immunodeficiency Francisco A. Bonilla, MD, PhD, David A. Khan, MD, Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD, David I. Bernstein, MD, Joann Blessing-Moore, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Chief Editor: Francisco A. Bonilla, MD, PhD Co-Editor: David A. Khan, MD Members of the Joint Task Force on Practice Parameters: David I. Bernstein, MD, Joann Blessing-Moore, MD, David Khan, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD Primary Immunodeficiency Workgroup: Chairman: Francisco A. Bonilla, MD, PhD Members: Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD GlaxoSmithKline, Merck, and Aerocrine; has received payment for lectures from Genentech/ These parameters were developed by the Joint Task Force on Practice Parameters, representing Novartis, GlaxoSmithKline, and Merck; and has received research support from Genentech/ the American Academy of Allergy, Asthma & Immunology; the American College of Novartis and Merck.
    [Show full text]