Clinical characteristics and efficacy of pioglitazone in a Japanese patient with familial partial lipodystrophy due to peroxisome proliferator-activated receptor γ gene mutation

Autor: Toru, Iizaka, Eriko, Kodama, Kentaro, Mikura, Tatsuya, Iida, Hideyuki, Imai, Mai, Hashizume, Yasuyoshi, Kigawa, Chiho, Sugisawa, Rie, Tadokoro, Kei, Endo, Fumiko, Otsuka, Masayo, Isoda, Ken, Ebihara, Shun, Ishibashi, Shoichiro, Nagasaka
Rok vydání: 2023
Předmět:
Zdroj: Endocrine Journal. 70:69-76
ISSN: 1348-4540
0918-8959
DOI: 10.1507/endocrj.ej22-0140
Popis: Familial partial lipodystrophy (FPLD) 3 is a rare genetic disorder caused by peroxisome proliferator-activated receptor γ gene (PPARG) mutations. Most cases have been reported in Western patients. Here, we describe a first pedigree of FPLD 3 in Japanese. The proband was a 51-year-old woman. She was diagnosed with fatty liver at age 32 years, dyslipidemia at age 37 years, and diabetes mellitus at age 41 years. Her body mass index was 18.5 kg/m
Databáze: OpenAIRE