Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency

作者：Kobayashi Tomoko; Minami Sawako^*; Mitani Ayuki; Tanizaki Yuko; Booka Mina; Okutani Takahiro; Yamaguchi Seiji; Ino Kazuhiko

来源：Journal of Obstetrics and Gynaecology Research, 2015, 41(5): 799-802.

DOI：10.1111/jog.12609

• acute fatty liver of pregnancy
• coagulopathy
• fatty acid oxidation disorder
• gene analysis
• mitochondrial trifunctional protein deficiency

Acute fatty liver of pregnancy (AFLP) is a devastating disorder of the maternal liver in the third trimester. Recent studies have demonstrated an association between AFLP and fetal fatty acid oxidation disorders. Here, we report a case of AFLP caused by fetal mitochondrial trifunctional protein (TFP) deficiency. A 21-year-old parous woman presented with nausea, genital bleeding and abdominal pain at 33weeks of gestation. Laboratory data revealed hepatic failure and disseminated intravascular coagulopathy. The patient underwent emergency cesarean section and was diagnosed with AFLP from the clinical characteristics. She was successfully treated with frequent plasma exchange. The newborn presented severe heart failure and died on the 39th day after birth. Tandem mass spectrometry indicated long-chain fatty acid oxidation disorder. Gene analysis demonstrated homozygous mutation in exon 13 of HADHB, the gene responsible for mitochondrial TFP deficiency. The parents carried a heterozygous mutation at the same location in HADHB.

• 出版日期2015-5