Información del artículo
El síndrome de Prader-Willi (SPW) es un trastorno genético con hallazgos que cambian con la edad. Se caracteriza en la infancia por hipotonía, dificultades para la alimentación, retraso en el desarrollo e hipoplasia genital. En la adolescencia y la edad adulta, la problemática se centra en las alteraciones del comportamiento, la ausencia de saciedad y el retraso mental leve o moderado. En las últimas 2 décadas ha habido progresos remarcables en el conocimiento de sus manifestaciones clínicas y su historia natural, y se han desarrollado tratamientos, como la hormona de crecimiento y los psicofármacos, que han permitido una mejoría de la calidad de vida; sin embargo, los conocimientos acerca de su tratamiento en la edad adulta siguen siendo insuficientes. Este artículo quiere proporcionar una visión global de los problemas clínicos más importantes en el síndrome de Prader-Willi en la edad adulta. Los temas incluidos son la obesidad y sus consecuencias, los factores de riesgo cardiovascular y la diabetes, los problemas respiratorios, los trastornos del sueño, el hipogonadismo, la osteoporosis y los trastornos del comportamiento y psiquiátricos.
Palabras clave:
SPW
Síndrome de Prader-Willi
Edad adulta
Prader-Willi Syndrome (PWS) is a genetic disorder with features that change with age. In infancy, PWS is characterized by hypotonia, feeding difficulties, developmental delay, and genital hypoplasia. In adolescence and adulthood, problems are centered on behavioral disorders, absence of satiety, and mild to moderate mental retardation. In the past two decades remarkable progress has been made in the understanding of its clinical manifestations and natural history, and treatments have been developed, such as growth hormone therapy and the use of psychoactive drugs, which can improve quality of life in these patients. However, knowledge about the management of PWS in adulthood is still poor. This article aims to provide an overall view of the most important clinical problems in adults with PWS. The issues included are obesity and its consequences, cardiovascular risk factors and diabetes, respiratory abnormalities, sleep disorders, hypogonadism, osteoporosis, and behavioral and psychiatric disorders.
Key words:
PWS
Prader-Willi syndrome
Adulthood
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