Discussion
In KS, gene mutations in DNAI1 and DNAH5 lead to impaired ciliary motility, which predisposes patients to recurrent sinopulmonary infections, infertility and errors with left-right body orientation. The mutated genes DNAI1 and DNAH5 cause the cilia to be the wrong size or shape or move in the wrong way, making ciliary motility defective [2]. The current case had heterozygous mutations ofDNAH5 before conception [7].
Abnormal ciliary motility leads to infertility in both males and females [1]. Male infertility is due to the immotility of sperm, while in females, cilial movement may be absent in the fallopian tubes [8]. Females with KS have a variable degree of fertility. IVF is necessary for some females with KS who desire children, although spontaneous pregnancy is not impossible [1].
In the current case, lung transplantation was offered at the first visit to our department. Pregnancy should be avoided for at least 1-2 years posttransplantation to minimize the risks to allograft function [9]. Transplant patients have an increased risk of maternal and neonatal complications, such as preterm birth, low birth weight and postpartum graft loss [6]. In the current case, the patient’s husband was 47 years old at her first visit to our department. Thus, we considered that earlier pregnancy by IVF was preferred considering potential adverse outcomes associated with posttransplant conception and childcare burden due to advanced age, although she might have had a possibility of spontaneous conception.
The physiological reduction in lung volume and the increase in oxygen consumption during pregnancy may impair respiratory function. It has been reported that a woman with KS had three consecutive spontaneous conceptions that resulted in full-term vaginal deliveries without exacerbation of respiratory function [3]. Another report showed a woman with KS with a twin pregnancy who did not exhibit impaired respiratory status during pregnancy and delivered healthy neonates by cesarean section under spinal anesthesia [5]. To the best of our knowledge, there have been no reports of impaired maternal respiratory function during pregnancy in KS females. In the current case, one reason for impaired respiratory function during pregnancy was that the patient’s respiratory function had been at a level that would be considered an indication of lung transplantation even before conception. Another reason was that the increased size of the gravid uterus and splinting of the diaphragm caused a decrease in lung expansion, which affected her respiratory function.
In the perinatal management of KS females, the mode of delivery and anesthetic technique should be planned with a multidisciplinary team to assess the characteristics and to determine the best approach for preserving maternal and fetal wellbeing. Combined epidural and spinal anesthesia can be used, as it produces postoperative pain relief, optimizing respiratory function. Our case underwent cesarean section under epidural and spinal anesthesia in a slight reverse Trendelenburg position based on a multidisciplinary discussion. Positioning the patient on the operating table might be challenging. It has been considered that early chest physiotherapy in the ICU could contribute to the early improvement of respiratory function.
In conclusion, we stress that appropriate assessment and management by a multidisciplinary team from preconception to the postpartum period are essential to achieve a good pregnancy outcome for females with KS, especially for those with aggravation of the lung disease during pregnancy. Our case provides valuable information for preconception care and perinatal management in females with KS.