THYROID DISEASE AMONG CHILDREN WITH DOWN'S SYNDROME (MONGOLISM)

PEDIATRICS ◽  
1965 ◽  
Vol 36 (4) ◽  
pp. 608-614
Author(s):  
Alvin B. Hayles ◽  
Ward L. Hinrichs ◽  
W. Newlon Tauxe
Keyword(s):  
Iron Deficiency ◽  
Thyroid Function ◽  
Binding Capacity ◽  
Down's Syndrome ◽  
Clinical Manifestations ◽  
Down’S Syndrome ◽  
Primary Hypothyroidism ◽  
Deficiency Anemia ◽  
Carrier Protein ◽  
Normal Children

Observations on two mongoloid children, one having primary hypothyroidism and the other having primary hyperthyroidism, have been reported. Primary hypothyroidism in the mongoloid child, in each of the three cases reported to date, has been associated with uterine bleeding attributed to hormonal overlap in the pituitary feedback mechanism. The significance of this phenomenon is not clean. A total of sixteen cases of mongolism with hyperthyroidism have been described. There is no evidence that altered thyroid function plays a role in the clinical manifestations of mongolism, and significant alteration in thyroid function is uncommon among such patients. Both of the carrier protein systems responded to the stresses of the superimposed disease processes in these mongoloid children as they do in normal children. Specifically, the values for the erythrocytic uptake of 1-I131-triiodothyronine and thyroxine and the triiodothynonine binding capacities (Case 2 only) were all in the expected ranges for both thyroid derangements involved. Similarly, in Case 2, where an iron-deficiency anemia was also present, the increase in the iron binding capacity and presumably in the level of transferrin was on the order of that to be expected for the degree of iron deficiency. The response to stress of both carrier protein systems in Down's Syndrome suggests that protein synthesis of transferrin and TBG is normal.

Iron Homeostasis and Disorders in Dogs and Cats: A Review

2011 ◽  
Vol 47 (3) ◽  
pp. 151-160 ◽  
Author(s):  
Jennifer L. McCown ◽  
Andrew J. Specht
Keyword(s):  
Iron Deficiency ◽  
Iron Overload ◽  
Iron Homeostasis ◽  
Diagnostic Testing ◽  
Clinical Manifestations ◽  
Essential Element ◽  
The Body ◽  
Deficiency Anemia ◽  
Enzyme Systems ◽  
Living Organisms

Iron is an essential element for nearly all living organisms and disruption of iron homeostasis can lead to a number of clinical manifestations. Iron is used in the formation of both hemoglobin and myoglobin, as well as numerous enzyme systems of the body. Disorders of iron in the body include iron deficiency anemia, anemia of inflammatory disease, and iron overload. This article reviews normal iron metabolism, disease syndromes of iron imbalance, diagnostic testing, and treatment of either iron deficiency or excess. Recent advances in diagnosing iron deficiency using reticulocyte indices are reviewed.

scholarly journals Understanding the Transferrin Receptor and Cellular Iron Deficiency Outside the Erythron

Blood ◽  
2017 ◽  
Vol 130 (Suppl_1) ◽  
pp. SCI-42-SCI-42
Author(s):  
Nancy C. Andrews
Keyword(s):  
Iron Deficiency ◽  
Missense Mutation ◽  
Transferrin Receptor ◽  
Iron Uptake ◽  
Clinical Manifestations ◽  
Cell Types ◽  
Conditional Knockout ◽  
Deficiency Anemia ◽  
Transferrin Receptor 1

Our laboratory showed that mouse embryos lacking the classical transferrin receptor, Tfrc, experienced anemia, pericardial effusion and a kinking of the neural tube, but otherwise appeared to be developing normally, suggesting that Tfrc was not needed by most tissues (Levy et al. 1999). Subsequently, we reported that Tfrc was essential for hematopoiesis but seemed to be dispensable in other tissues (Ned et al., 2003). A recent paper showing that a missense mutation in the TFRC internalization motif resulted in immunodeficiency without other clinical manifestations was consistent with this idea (Jabara et al., 2016). Nonetheless, we were not entirely convinced. More than thirty years ago, Larrick and Hyman described a patient with an anti-TFRC autoantibody who suffered from a broader range of clinical problems, suggesting that TFRC might have other roles (Larrick and Hyman, 1984). To help resolve the issue, we developed mice carrying an allele of Tfrc that can be conditionally inactivated, and used Cre/lox-mediated recombination to disrupt that allele in vivo, in several key cell types. We asked two questions: (1) is Tfrc important in those cell types and, if so, (2) what are the cellular consequences of Tfrc loss? We found that some cell types do not need Tfrc but others are highly dependent upon it. Those cell types that depend upon Tfrc generally need it for iron uptake, as expected, with one exception. Tfrc is critically important for normal development of the intestinal epithelium, but our data indicate that its essential role does not involve iron uptake. While surprising in view of our earlier results, the roles of Tfrc that we have unmasked through conditional knockout experiments would not have been apparent prior to the death of global Tfrc knockout embryos in mid-gestation. Nonetheless those roles are important, and our results give insight into why iron deficiency exacerbates heart failure, how muscle iron deficiency leads to disruption of systemic carbon metabolism, and how iron deficiency, rather than iron excess, may play a role in the pathogenesis of neurodegenerative disorders. Levy JE, Jin O, Fujiwara Y, Kuo F, Andrews NC. Transferrin receptor is necessary for development of erythrocytes and the nervous system. Nat Genet. 1999;21:396-9. Ned RM, Swat W, Andrews NC. Transferrin receptor 1 is differentially required in lymphocyte development. Blood. 2003;102:3711-8. Jabara HH, Boyden SE, Chou J et al. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016;48:74-8. Larrick JW, Hyman ES. Acquired iron-deficiency anemia caused by an antibody against the transferrin receptor. N Engl J Med. 1984;311:214-8. Disclosures Andrews: Novartis: Membership on an entity's Board of Directors or advisory committees.

scholarly journals Iron deficiency anemia: current strategies for the diagnosis and management

2013 ◽  
Vol 4 (3) ◽  
pp. 193-202 ◽  
Author(s):  
Zühre Kaya
Keyword(s):  
Iron Deficiency ◽  
Iron Deficiency Anemia ◽  
Binding Capacity ◽  
Ferritin Level ◽  
Nutritional Deficiencies ◽  
Deficiency Anemia ◽  
Iron Level ◽  
Serum Iron Level ◽  
Diagnosis And Management ◽  
Low Serum

Iron deficiency is one of the commonest nutritional deficiencies in the world. It is multifactorial and may be caused by lack of intake, blood loss and intestinal causes. Clinical features are highly variable, and most patients are asymptomatic. Typical laboratory features of iron deficiency anemia (IDA) include a hypochromic microcytic anemia, low serum iron level, high total iron binding capacity, low serum ferritin level. Usefulness of monitoring serum transferrin receptor level (sTfR) and hepcidin for identifying IDA have been examined in a few studies. Available data suggest that sTfR can potentially become a valuable tool for regular testing of patients in the future. Despite IDA is easily corrected with iron therapy, establishing the cause can be difficult, particularly in cases caused by disorders of iron transport. Education for clinician needs to focus on increasing awareness of the importance of failure respond to iron supplementation. The aim of this review was to outline the current strategies for the diagnosis and management of IDA in the light of the latest reports.

A Quantitative Study of the Absorption of Food Iron in Infants and Children

PEDIATRICS ◽  
1958 ◽  
Vol 22 (2) ◽  
pp. 258-258
Keyword(s):  
Iron Deficiency ◽  
Ferrous Iron ◽  
Daily Intake ◽  
Infants And Children ◽  
Deficiency Anemia ◽  
Normal Children ◽  
Iron Salts ◽  
Fundamental Information ◽  
Iron Deficient ◽  
In Infants And Children

These papers contain much fundamental information concerning the prevention and treatment of iron deficiency anemia in infants and children. Normal children absorb an average of about 10% of the iron in natural foods and commercially-prepared infant cereals supplemented with iron. Daily intake of iron by an infant receiving a diet which includes optimal amounts of iron-containing foods may be sufficient to meet the iron requirements of the first 18 months of life unless the infant is born with suboptimal stores of iron, suffers blood loss or is born prematurely. Such a hypothetical infant is probably not representative of a large segment of the population. The authors suggest that more data is needed on the results of giving adequate supplemental iron during infancy to determine whether the hematologic values in infancy may be made to correspond more closely to adult values. Based on the finding of the previous paper that iron supplementation of the diets of many infants may be desirable, studies were undertaken to evaluate the absorption of iron salts by normal and anemic children. Twelve to fifteen percent of a 30 mg dose of ferrous iron given once or twice a day was absorbed by normal children. Iron deficient infants absorb more ferrous iron than do normal infants. The variability between individuals in absorption of food iron and supplemental iron are discussed along with consideration of the dosage of iron salts to be employed in treatment. The authors state that as no investigations have established the desirability of increasing the normal hematologic values of infants beyond their customary levels of 11 to 13 gm/100 ml, indiscriminate supplementation of normal infants' diets is not recommended. Therapetmtic iron is indicated only if specific evidence of iron deficiency exists and the widespread use of mixtures containing several hematopoietic agents is deplored.

scholarly journals Down's syndrome and acute leukemia in children: an analysis of phenotype by use of monoclonal antibodies and electron microscopic platelet peroxidase reaction [see comments]

Blood ◽  
1990 ◽  
Vol 76 (11) ◽  
pp. 2348-2353 ◽  
Author(s):  
S Kojima ◽  
T Matsuyama ◽  
T Sato ◽  
K Horibe ◽  
S Konishi ◽  
...  
Keyword(s):  
Monoclonal Antibodies ◽  
Acute Lymphoblastic Leukemia ◽  
Complete Remission ◽  
Acute Leukemia ◽  
Lymphoblastic Leukemia ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Electron Microscopic ◽  
Normal Children ◽  
Response To Chemotherapy

Abstract The clinical, hematologic, and immunophenotypic features in 20 patients with Down's syndrome (DS) and acute leukemia were analyzed. Of the 20 patients, all 14 patients who were 3 years old and less were diagnosed as having acute megakaryoblastic leukemia (AMKL) by use of platelet- specific monoclonal antibodies and platelet peroxidase (PPO) reaction in electron microscopy. They were characterized by the presence of bone marrow fibrosis, having a history of myelodysplastic syndrome (MDS) and a poor response to chemotherapy. Only one patient has remained in continuous complete remission for more than 1 year. Acute leukemia in six patients who were older than 4 years was classified as common acute lymphoblastic leukemia antigen (CALLA)-positive acute lymphoblastic leukemia (ALL). In one of six patients classified as ALL, the leukemic blasts simultaneously expressed myeloid-associated surface antigens. All six patients achieved a complete remission and have remained in continuous complete remission and have remained in continuous complete remission from 10 to 52 months from the initial diagnosis. Although it has been suggested that the distribution of types of acute leukemia in patients with DS is similar to that in normal children, the present study shows that the distribution of acute leukemia types is quite different from that in patients without Down's syndrome.

Immunological Measurement of Transferrin Compared with Chemical Measurement of Total Iron-Binding Capacity

1975 ◽  
Vol 21 (8) ◽  
pp. 1063-1066 ◽  
Author(s):  
Swei H Tsung ◽  
Waldemar A Rosenthal ◽  
Karen A Milewski
Keyword(s):  
Iron Deficiency ◽  
Iron Deficiency Anemia ◽  
Binding Capacity ◽  
Total Iron ◽  
Deficiency Anemia ◽  
Iron Binding ◽  
Total Iron Binding Capacity ◽  
Chronic Disorders ◽  
Birth Control Pills ◽  
Iron Binding Capacity

Abstract Because of uncertainty as to the molecular weight of transferrin, a previous comparison [Von der Heul et al., Clin. Chim. Acta 38, 347 (1972)] between transferrin content of serum and total iron-binding capacity cannot be definitive. We found a conversion factor for expressing transferrin as iron-binding capacity by measuring the maximum amount of iron bound by 1 mg of transferrin. We compared the resulting calculated value with values obtained by three other methods for measuring total iron-binding capacity. We agree with the previous observation that the latter, as measured radioisotopically, give higher results than would be judged from the transferrin content but the same as those for two chemical methods. The diffusion rate of transferrin in agar was the same irrespective of the degree of iron saturation. Serum transferrin concentrations were low in patients with anemia resulting from malignancy, chronic disorders, and cirrhosis of the liver, and high or normal in patients with iron deficiency anemia and in pregnant women or women who were taking birth-control pills. Measurement of transferrin concentration can be used to distinguish iron deficiency anemia from anemia resulting from chronic disorders, but offers no advantages over existing methods for estimating total ironbinding capacity.

scholarly journals Multifactorial Etiology of Anemia in Celiac Disease and Effect of Gluten-Free Diet: A Comprehensive Review

Nutrients ◽  
2019 ◽  
Vol 11 (11) ◽  
pp. 2557 ◽  
Author(s):  
Martín-Masot ◽  
Nestares ◽  
Diaz-Castro ◽  
López-Aliaga ◽  
Alférez ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Iron Deficiency ◽  
Vitamin B12 ◽  
Clinical Manifestations ◽  
Vitamin B12 Deficiency ◽  
Deficiency Anemia ◽  
Intestinal Biopsy ◽  
B12 Deficiency ◽  
Endomysial Antibodies ◽  
Inflammatory Bowel

Celiac disease (CD) is a multisystemic disorder with different clinical expressions, from malabsorption with diarrhea, anemia, and nutritional compromise to extraintestinal manifestations. Anemia might be the only clinical expression of the disease, and iron deficiency anemia is considered one of the most frequent extraintestinal clinical manifestations of CD. Therefore, CD should be suspected in the presence of anemia without a known etiology. Assessment of tissue anti-transglutaminase and anti-endomysial antibodies are indicated in these cases and, if positive, digestive endoscopy and intestinal biopsy should be performed. Anemia in CD has a multifactorial pathogenesis and, although it is frequently a consequence of iron deficiency, it can be caused by deficiencies of folate or vitamin B12, or by blood loss or by its association with inflammatory bowel disease (IBD) or other associated diseases. The association between CD and IBD should be considered during anemia treatment in patients with IBD, because the similarity of symptoms could delay the diagnosis. Vitamin B12 deficiency is common in CD and may be responsible for anemia and peripheral myeloneuropathy. Folate deficiency is a well-known cause of anemia in adults, but there is little information in children with CD; it is still unknown if anemia is a symptom of the most typical CD in adult patients either by predisposition due to the fact of age or because biochemical and clinical manifestations take longer to appear.

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