Purizaca-Rosillo Nelson David, Benites-Cóndor Yamalí Elena, Abarca Barriga Hugo, Del Águila Villar Carlos, Chávez Pastor Miguel, Franco Palacios Littner, Olea Zapata Ricardo, Rejas Parodi James, Martinez Uceda Luz, Chavesta Velásquez Felix, Gamarra Vilela John, Arámbulo Castillo Sebastián, Ávila Reyes Amanda
Universidad Peruana Cayetano Heredia, Lima, Peru.
Sociedad Científica de Estudiantes de Medicina de la Universidad Nacional de Piura, Perú.
Intractable Rare Dis Res. 2020 Feb;9(1):58-60. doi: 10.5582/irdr.2020.01004.
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". A patient was considered to have CGL if they met the clinical criteria and or if they had a molecular diagnosis, in addition to patients with CGL from the department of Piura reported in previous publications. A total of 23 cases of CGL were found in Piura, the highest prevalence was in 2014 with 1.2 per 100,000 people, and by 2017 the prevalence was 0.86 per 100,000 people. In conclusion, the department of Piura has a high prevalence of CGL.
先天性全身脂肪营养不良（CGL）是一种常染色体隐性罕见病，全球患病率约为每1200万人中有1例。秘鲁北部皮斯科地区有几例CGL患者的病例报告；然而，其区域患病率尚不清楚。目的是确定2000年至2017年期间秘鲁皮斯科地区CGL的患病率。开展了一项描述性观察研究。检索了2000年至2017年期间在皮斯科省参考医院的儿科和内分泌科以及“国家儿童健康研究所”的遗传学和内分泌科就诊的诊断为CGL的患者的临床病史。除了先前出版物中报道的皮斯科省CGL患者外，如果患者符合临床标准和/或有分子诊断，则被认为患有CGL。在皮斯科共发现23例CGL病例，2014年患病率最高，为每10万人中有1.2例，到2017年患病率为每10万人中有0.86例。总之，皮斯科省CGL患病率较高。
