Asunto(s)
Mapeo Cromosómico , Cromosomas Humanos , Genética Médica , Humanos , Sociedades Científicas , Estados UnidosRESUMEN
We describe a 31 year old male patient who presented with severe cardiomyopathy caused by primary hemochromatosis. After a stormy course, complicated by heart failure and severe ventricular arrythmias, improvement in clinical status and myocardial function occurred. Depletion of myocardial iron was documented by the technique of serial endomyocardial biopsy. Myocardial iron stores were not yet depleted when hypoferremia and iron deficiency anemia occurred. This is the first reported study of myocardial morphology in a successfully treated patient with hemochromatotic cardiomyopathy.
Asunto(s)
Paro Cardíaco/terapia , Hemocromatosis/terapia , Fibrilación Ventricular/terapia , Adulto , Biopsia , Paro Cardíaco/etiología , Hemocromatosis/complicaciones , Hemosiderina/análisis , Humanos , Hierro/análisis , Masculino , Miocardio/patología , Fibrilación Ventricular/etiologíaAsunto(s)
Investigación , Sociedades Científicas , Mujeres , Factores de Edad , Ensayos Clínicos como Asunto , Femenino , Humanos , Estados UnidosAsunto(s)
Aminoácidos/metabolismo , Hiperparatiroidismo/metabolismo , Túbulos Renales/metabolismo , Hormona Paratiroidea/farmacología , Adenoma/metabolismo , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de las Paratiroides/metabolismo , Fosfatos/metabolismo , Prolina/metabolismoRESUMEN
Uptake of inorganic phosphate is impared in intestinal mucosa from hemizygous males and heterozygous females with X-linked familial hypophosphatemic rickets. Considerable intrafamilial and interfamilial variation in uptake of inorganic phosphate is observed in affected patients. Uptake by normal mucosa is concentrative and energy-dependent, and is mediated by at least two systems with widely different affinities. These results lend direct support to the thesis that the primary metabolic disturbance in this disease results from impaired transport of inorganic phosphate in kidney and gut.