[Vitamin B12 deficiency in an infant child of a mother with pernicious anemia]. / Déficit de vitamina B12 en un lactante hijo de madre portadora de anemia perniciosa.

INTRODUCTION: In infants, vitamin B12 deficiency is mainly due to nutritional deficiencies related to maternal deficit. Most cases of maternal deficiencies are associated with vegetarian diets. Pernicious anemia is an au toimmune disease that affects the absorption of this vitamin. Although it is less common than nutri tional deficiency, is also an important cause of maternal deficiency. OBJECTIVE: to report a case of an infant with vitB12 deficiency, secondary to pernicious anemia in his mother, and to review the most important aspects of this disease in childhood. CLINICAL CASE: Nine months-old male infant, without pathological perinatal history, exclusively breastfed, with persistent rejection of solid food from 6 months of age. One month before hospitalization, he progressively presented hyporesponsiveness, with fluctuating state of alertness, regression of motor development milestones, and vomiting. The blood count showed macrocytic anemia and neutropenia. Vitamin B12 deficiency was confirmed in the patient. He received treatment with intramuscular vitamin B12 with good clinical and laboratory response. Maternal B12 deficiency was confirmed as the cause of the infant's deficiency. Since the mother reported no dietary restrictions, anti-intrinsic factor and anti-parietal cell antibodies were measured, leading to the diagnosis of pernicious anemia. CONCLUSIONS: Early recognition is essential to prevent the development of potentially irreversible neurological damage. Maternal pernicious ane mia should be considered in children with megaloblastic anemia, especially in those whose mothers do not follow vegetarian diets.

Pancitopenia em pacientes com anemia perniciosa. Estudo descritivo de 33 casos. / Pancytopenia in patients with pernicious anemia. Descriptive study of 33 cases.

Objetivo: Discriminar as variáveis de sexo e idade nos pacientes com anemia perniciosa; estudar seu perfil hematimétrico; verificar a prevalência de outras doenças autoimunes e anemia perniciosa; analisar a incidência da pancitopenia e sua relação com alterações laboratoriais comum na doença; e avaliar a frequência dos autoanticorpos anticélulas parietais e antifator intrínseco. Métodos: Estudo transversal descritivo, de base clínica e laboratorial, de 33 prontuários de pacientes com anemia perniciosa, diagnosticados em um ambulatório de hospital terciário de atenção à saúde, no período de junho de 2009 a junho de 2014. Para analisar a relação da presença e da ausência de pancitopenia com os níveis da enzima lactato desidrogenase e vitamina B12, foi utilizado o teste qui quadrado. O programa utilizado foi o software Epi Info, versão 7. Resultados: Na amostra, 63,6% eram mulheres, e a idade média geral foi de 47,3 anos. Doenças autoimunes estavam associadas em 30,3% dos pacientes. A pancitopenia esteve presente em 39,4% dos pacientes. Houve significância estatística na relação da pancitopenia com os níveis de enzima lactato desidrogenase (p<0,05). A prevalência do antifator intrínseco foi de 69,7% e dos autoanticorpos anticélulas parietais foi de 72,7%. Conclusão: A pancitopenia mostrou-se um achado significante na população com anemia perniciosa, assim como níveis elevado de LDH, acrescentando a anemia perniciosa como um diagnóstico diferencial de tais alterações laboratoriais.(AU)

Objective: To discriminate the gender and age variables in patients with pernicious anemia; to study erythrocyte profile; to check the prevalence of other autoimmune diseases and pernicious anemia; to analyze the incidence of pancytopenia and its relationship with common laboratory abnormalities in the disease; to evaluate the frequency of anti-gastric parietal cell antibodies, and anti-intrinsic factor antibodies. Methods: Descriptive, cross-sectional study of clinical and laboratorybased medical records of 33 patients with pernicious anemia diagnosed in an outpatient's department of a tertiary healthcare center, in the period between June 2009 and June 2014. To analyze the relationship between the presence and absence of pancytopenia with levels of lactate dehydrogenase enzyme and levels of Vitamin B12 we used the chi-squared test. The software used was Epininfo version 7. Results: The sample showed 63.6% women and 36.4% men with a mean age of 47.3 years. Autoimmune diseases were associated in 30.3% of the patients. Pancytopenia was present in 39.4% of patients. There was statistically significant relationship of pancytopenia with lactate dehydrogenase enzyme levels (p <0.05). The frequency of anti-intrinsic factor antibodies was 69.7%, and the antigastric parietal cell antibodies was 72.7%. Conclusion: Pancytopenia proved to be a significant finding among the population with pernicious anemia and high levels of LDH, which includes pernicious anemia as a differential diagnosis of such laboratory alterations.(AU)

Caso clínico: síndrome poliglandular autoinmune tipo II, forma de presentación en un paciente adulto / Clinical case: autoimmune polyglandular syndrome type II, presentation in adult patient

Autoimmune Polyglandular Syndrome (APS) type II or Schmidt`s Syndrome is diagnosed when a patient has adrenocortical deficiency with type 1 diabetes mellitus, chronic lymphocyticthyroiditis, or Graves’ disease. The disease commonly manifests in the third or fourth decade. We present the case of a 45 yo male patient who manifested simultaneously at the moment of diagnosis, clinical and laboratory features of hypothyroidism, pernicious anemia and Addison disease. We discuss etiologic, clinical and biochemical aspects in type II APS.

Anemia peerniciosa associada a anemia hemolitica auto-imune - relato de um caso / Pernicious anaemia associated to auotimmune haemolytic

Relatamos o caso de uma paciente de 60 anos com anemia perniciosa que, 10 meses apos seu diagnostico, apresentou episodio de anemia hemolitica, com teste de Coombs direto positivo. A anemia perniciosa foi diagnosticada por aspirado e biopsia de medula ossea, biopsia de fundo gastrico e teste terapeutico. Nesta ocasiao, o teste de Coombs direto foi negativo. O episodio de anemia hemolitica foi tratado com corticoide, com subsequente melhora clinica e laboratorial. Um segundo episodio, 4 meses apos o primeiro, tambem foi controlado com corticoterapia. E discutida a associacao entre anemia perniciosa e fenomenos auto imunes. Como evento raro , torna-se de interesse o relato de mais um caso de anemia perniciosa associada a anemia hemolitica auto-imune

[Advances in gastrointestinal peptides: gastrin]. / Avances en peptidos gastrointestinales: gastrina.

Classical hormones (present in blood circulation), neuro-endocrine agents (released in the neural synapses), paracrine substances (disseminated around neighbouring cells) and autocrine factors (acting upon its own generating cell) constitute the universe of gastrointestinal peptides. Early gastrointestinal endocrinology has progressed into the current "receptorology" age. Technological advances have naturally produced an almost alluvial amount of information. This review addresses to several features of gastrin, a member of the gastrin/cholecystokinin family: a) participation in the regulation of gastric acid secretion; b) secretory cells receptors; c) hypergastrinemia and its influence upon enterochromaffin-like cells in characteristic clinical situations; d) histamine release regulation; and e) gastrin receptors and their potential actions on normal and neoplastic colonic epithelium.

Anemias nutricionais / Nutritional anemias

A falta de matéria prima para a biossíntese dos glóbulos vermelhos do sangue leva anemias, destacando-se principalmente a anemia ferropriva e a anemia perniciosa, ambas curáveis pela suplementaçäo alimentar

Congenital pernicious anemia: report of seven patients, with studies of the extended family.

Seven children ages 1 1/2 to 12 years with congenital pernicious anemia were detected in an extended Mexican family. All affected children had megaloblastic anemia accompanied by low serum B12 and normal serum folate levels. Gastric fluid analysis in six patients revealed normal gastric acidity and absent intrinsic factor. Serum antibodies to intrinsic factor or parietal cells were also absent. Schilling tests performed in six of the seven patients yielded abnormal results. Of the three patients in whom gastric biopsy was done, two had normal histologic findings (including examination by electron microscopy) and one had mild atrophy. All patients responded rapidly to parenterally administered vitamin B12 therapy. In addition, 170 family members were screened for the defect with complete blood counts and serum B12 levels. Such screening detected pernicious anemia in two of the children, but no other abnormalities that could be attributed to pernicious anemia were found in other family members. Based on the family pedigree, autosomal recessive inheritance is likely. The variability of age of presentation in this family is noteworthy and suggests that expression may be modified by still undefined factors.

Mala absorción tropical en Bogotá / Tropical malabsorption in Bogota

Se presentan 75 casos de mala absorción tropical, 65 adultos y 10 niños, estudiados desde el año de 1968 en el Hospital San Juan de Dios de Bogotá. La mayoría de los pacientes provenían de Cundinamarca y del Distrito Especial de Bogotá. En todos hubo mala absorción de la D-xilosa y esteatorrea. La biopsia peroral de la mucosa intestinal practicada en 64, mostró atrofia de 1+ en 16, de 2+ en 30, de 3+ en 18 y en ninguno se observó atrofia de 4+. Se encontró anemia en 58 pacientes, la cual fue de tipo megaloblástico en 45 (60 por ciento), ocasionada a su vez por deficiencia de ácido fólico, en 4, de Vitamina B12 en 9 y de ácido fólico y Vitamina B12 en 32. Fueron hallazgos frecuentes además del peso bajo, la glositis, la carotinemia baja (<40ug/dl) la colesterolemia inferior a 150mg/dl y la albuminemia por debajo de 3.5 g/dl. Fueron tratados exitosamente con dieta balanceada, ácido fólico, Vitamina B12, tetraciclina o sulfas, en forma aislada o empleando combinaciones de estos medicamentos. En presencia de megaloblastosis la terapia ideal es el tratamiento "triconjugado" de Vitamina B12, ácido fólico y tetraciclina; solamente falleció un paciente, por tromboembolismo pulmonar. El diagnóstico diferencial debe hacerse principalmente con la enteropatía por Gluten y con la anemia perniciosa

Anemia and intestinal dysfunction in former residents of the Caribbean.

A group of subjects had common features of megaloblastic anemia due to vitamin B12 deficiency, normal or high serum folate, and evidence of intestinal malabsorption. They were all former residents of the Caribbean area now living in New York City. Despite similar symptoms and diagnostic studies, two subjects were found to have pernicious anemia and three to have tropical sprue. Achlorhydria, serum anti-intrinsic factor antibody, the severity of small intestinal abnormalities, and posttherapy Schilling tests were helpful differential factors. These subjects illustrate the problems that may be encountered in differentiating tropical sprue and pernicious anemia.