The online version of this article (doi:10.1186/1471-230X-14-160) contains supplementary material, which is available to authorized users.
Kenya Kamimura, Hiroyuki Abe, Naomi Kamimura contributed equally to this work.
The authors declare that they do not have a current financial arrangement or affiliation with any organisation that may have a direct interest in their work.
KK, AH, and KN wrote manuscript and performed genetic analysis and treated patient. YY, OK, YK, YK, ET, and TK treated patient and baby. MM, TY, MK, KH, KY, and MT treated patient and analyzed the data. OM, KY, MY, and KR performed the genetic sequence analysis. NM, KT, and AY designed and analysed all data. All authors read and approved the final manuscript.
Intrahepatic cholestasis of pregnancy (ICP) is a cholestasis condition caused by elevated levels of serum bile acids that mainly occurs in the third trimester of pregnancy. Maternal symptoms include pruritus; elevation of transaminases, biliary enzymes, and bilirubin levels; and abnormal liver function tests. Fetal symptoms include spontaneous preterm labor, fetal distress, and intrauterine death. It is more prevalent in the Caucasians and is rarely found in Asian countries, including Japan. The etiology of ICP has been reported as involving various factors such as, environmental factors, hormone balance, and genetic components. The genetic factors include single-nucleotide polymorphisms (SNPs) in the genes of canalicular transporters, including ABCB4 and ABCB11. It has also been reported that the combination of these SNPs induces severe cholestasis and liver dysfunction.
Here, we report for the first time a 24-year Japanese case of severe ICP diagnosed by typical symptoms, serum biochemical analysis, and treated with the administration of ursodeoxycholic acid which improved cholestasis and liver injury and prevented fetal death. The sequence analysis showed SNPs reported their association with ICP in the ABCB11 (rs2287622, V444A) and ABCB4 (rs1202283, N168N) loci.
The risk of ICP has been reported to be population-specific, and it is rare in the Japanese population. Our case was successfully treated with ursodeoxycholic acid and the genetic sequence analysis has supported the diagnosis. Because genetic variation in ABCB4 and ABCB11 has also been reported in the Japanese population, we need to be aware of potential ICP cases in pregnant Japanese women although further studies are necessary.
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- Successful management of severe intrahepatic cholestasis of pregnancy: report of a first Japanese case
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