Introduction
Kartagener’s syndrome (KS) is an autosomal recessive genetic disorder characterized by a triad syndrome: chronic sinusitis, bronchiectasis and situs inversus. KS results from congenital ciliary dysfunctions and has an incidence of 1 in 25,000 [1]. Congenital ciliary dysfunctions in the respiratory tract, fallopian tube and flagella of spermatozoa can cause chronic or recurrent upper respiratory diseases and infertility. Gene mutations such as DNAI1 and DNAH5 have been indicated in KS patients [2]. Therapeutic strategies in KS patients are primarily focused on the control of respiratory infection, and lung transplantation is an option for end-stage lung disease.
Females with KS are not necessarily infertile, although males with KS are infertile due to abnormal sperm motility [1]. Previous reports have presented courses of pregnancies in females with KS without aggravation of the lung disease after natural conception [3] as well as in vitro fertilization and embryo transfer (IVF-ET) [4, 5]. Regarding pregnancy following lung transplantation, careful management is essential for contraception, timing of conception, maintenance of immunosuppression, adverse perinatal complications and risk of breastfeeding by neonatal exposure to immunosuppressants [6].
In this report, we describe a case of successful pregnancy in a patient with KS with DNAH5 mutations who had been offered an indication for lung transplantation before conception, despite aggravation of the lung disease during pregnancy, by a multidisciplinary approach.