Generalized lipodystrophy type 1 due to compound heterozygous mutation of AGPAT2 gene: One case report and literature review / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 840-844, 2021.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-911396
Biblioteca responsável:
WPRO
ABSTRACT
Congenital generalized lipodystrophy type 1 (CGL1) is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene. The main clinical mainifestations include body subcutaneous fat loss, muscle hypertrophy, obvious subcutaneous veins, pseudoacromegaly, hirsutism, and acanthosis nigricans. What′s more, CGL1 is always accompanied by metabolic diseases. Therefore, it is easily misdiagnosed as metabolic syndrome, type 2 diabetes, polycystic ovary syndrome, acromegaly, or Cushing′s syndrome. Meanwhile, it is difficult to distinguish it from partial lipoatrophy syndrome. In this article, we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Endocrinology and Metabolism
Ano de publicação:
2021
Tipo de documento:
Artigo