Diagnosis dan Tatalaksana Sindrom Prader-Willi

Abstrak

Prader-Willi Syndrome (PWS) adalah penyakit genetik multisistemik kompleks yang diwariskan secara paternal, merupakan penyebab obesitas genetik paling umum dengan perkiraan insidens sebesar 1:15.000 hingga 1:25.000 kelahiran hidup. PWS disebabkan oleh tidak adanya ekspresi gen pada regio kromosom 15q11.2-q13. Komplikasi yang umum meliputi gagal tumbuh pada masa prenatal, fitur dismorfik, perawakan pendek, hipogonadisme, gangguan kognitif, hiperfagia, dan gangguan perilaku. Penanganan PWS memerlukan pendekatan multidisiplin seperti manajemen nutrisi, penanganan insufisiensi adrenal, hipotiroidisme, hipogonadisme, pemberian hormon pertumbuhan, dan tatalaksana obstructive sleep apnea syndrome untuk menurunkan morbiditas, mortalitas, dan meningkatkan kualitas hidup pasien.

Prader-Willi Syndrome (PWS) is a multisystemic complex genetic disorder inherited paternally; this syndrome represents the most common genetic cause of obesity with an estimated incidence of 1:15,000 to 1:25,000 live births. PWS is caused by lack of genes expression on the paternally inherited chromosome 15q11.2-q13 region. The cardinal features of PWS include failure to thrive, dysmorphic features, short stature, hypogonadism, cognitive impairment, hyperphagia, and behavioral problems. A multidiscipline approach on PWS management is needed, such as nutritional management, adrenal insufficiency management, hypothyroidism, hypogonadism, growth hormone administration, and the management of obstructive sleep apnea syndrome to decrease morbidity and mortality, while increasing the quality of life.