RESUMO
Cardiac disease is the primary cause of death in patients affected by thalassaemia major. In most cases diastolic dysfunction precedes the onset of systolic impairment at a time when appropriate therapy can prevent progression of cardiac damage. We have assessed the pattern of left ventricular filling by Doppler echocardiography in six transfusion-dependent thalassaemic patients. They were re-evaluated 5 y after the first observation, after additional blood transfusions and consequent iron load. We registered a significantly impaired relaxation pattern in all of them. A state of cardiac anoxia has been hypothesized.
Assuntos
Diástole , Ecocardiografia Doppler , Função Ventricular Esquerda , Talassemia beta , Talassemia beta/fisiopatologia , Adolescente , Criança , Pré-Escolar , Progressão da Doença , Feminino , Humanos , Estudos Longitudinais , Masculino , Talassemia beta/diagnóstico por imagemRESUMO
Iron status, iron absorption, and intestinal blood loss were studied in 199 children undergoing diagnostic evaluation for suspected malabsorption. Evaluation of iron status included hematological indices, serum ferritin, and transferrin saturation. Iron absorption was assessed by the increment of serum iron after an oral iron load. Iron deficiency was common among patients affected by malabsorptive states, such as celiac disease (84%), cow's milk intolerance (76%), Crohn's disease (72%), and giardiasis (64%), whereas it was less common among patients with postinfectious enteritis (41%) and chronic nonspecific diarrhea (11%). Intestinal blood loss was seen only in patients with Crohn's disease and cow's milk intolerance, irrespective of iron nutritional status. On the other hand, iron malabsorption was very common, affecting 85-95% of the iron-deficient patients in all diagnostic groups, except in chronic nonspecific diarrhea. Iron malabsorption was less common among patients with adequate iron nutritional status than in those with iron deficiency. Iron malabsorption appears to play a major role in the pathogenesis of iron deficiency in patients with malabsorption. The iron absorption test shows greater sensitivity as a screening test for upper intestinal malabsorption than the D-xylose absorption test.
Assuntos
Anemia Hipocrômica/fisiopatologia , Gastroenteropatias/fisiopatologia , Ferro/farmacocinética , Síndromes de Malabsorção/fisiopatologia , Adolescente , Anemia Hipocrômica/diagnóstico , Anemia Hipocrômica/epidemiologia , Anemia Hipocrômica/etiologia , Criança , Pré-Escolar , Feminino , Gastroenteropatias/complicações , Humanos , Lactente , Absorção Intestinal/fisiologia , Síndromes de Malabsorção/etiologia , Masculino , Sangue Oculto , Prevalência , XiloseAssuntos
Doenças em Gêmeos , Hipotireoidismo/fisiopatologia , Contração Miocárdica , Talassemia/fisiopatologia , Criança , Ecocardiografia , Humanos , Hipotireoidismo/complicações , Hipotireoidismo/tratamento farmacológico , Masculino , Contração Miocárdica/efeitos dos fármacos , Talassemia/complicações , Tiroxina/administração & dosagemRESUMO
Multiple endocrine neoplasia, type IIb, is a rare syndrome characterized by mucosal neuromas, medullary thyroid carcinoma (MTC), pheochromocytoma and somatic abnormalities. A case of a 10-year-old girl with multiple mucosal neuromas and bilateral MTC is reported. The presumptive diagnosis of MTC was made on the basis of abnormal basal values of calcitonin and increased calcitonin secretion after pentagastrin injection. The manifestations of the syndrome are summarized, and the importance of repeated evaluation of thyroidal C-cell and adrenal medullary function in patients with the characteristic aspect of the syndrome is emphasized.
