Nelson David Purizaca-Rosillo, Yamalí Elena Benites-Cóndor, Hugo Abarca Barriga, Carlos Del Águila Villar, Miguel Chávez Pastor, Littner Franco Palacios, Ricardo Olea Zapata, James Rejas Parodi, Luz Martinez Uceda, Felix Chavesta Velásquez, John Gamarra Vilela, Sebastián Arámbulo Castillo, Amanda Ávila Reyes
Congenital generalized lipodystrophy (CGL) is an autosomal recessive rare disease, with a worldwide prevalence of around 1 in every 12 million people. There are several case reports of patients with CGL in Piura, a region in northern Peru; however its regional prevalence is unknown. The objective was to determine the prevalence of CGL in the region of Piura, Peru during the years 2000-2017. A descriptive, observational study was carried out. A search of clinical histories of patients with the diagnosis of CGL attended between 2000 and 2017 in the pediatric and endocrinology services of the reference hospitals of the department of Piura and in the genetic and endocrinology services of the "Instituto Nacional de Salud del Niño"...
February 2020: Intractable & Rare Diseases Research