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.