Article
Clinical characteristics and efficacy of pioglitazone in a Japanese patient with familial partial lipodystrophy due to peroxisome proliferator-activated receptor γ gene mutation.
Endocrine journal - 30 Jan 2023
Iizaka Toru, Kodama Eriko, Mikura Kentaro, Iida Tatsuya, Imai Hideyuki, Hashizume Mai, Kigawa Yasuyoshi, Sugisawa Chiho, Tadokoro Rie, Endo Kei, Otsuka Fumiko, Isoda Masayo, Ebihara Ken, Ishibashi Shun, Nagasaka Shoichiro
Abstract excerpt
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...
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