Cystic Fibrosis Flashcards
Define cystic fibrosis
an autosomal recessive disease caused by mutations of a CFTR gene on chromosome 7 which encodes for a chloride channel in the membranes of epithelial cells.
What is the most common cause of death in patients with Cystic Fibrosis
respiratory failure due to progressive bronchiectasis and persistent lung infections
Complication of cystic fibrosis
* Gestational diabetes
* Prematurity
* Maternal death within 5 years of delivery
Which virulent organisms are responsible for infection in cystic fibrosis
Pseudomonas aeruginosa, Staphylococcus aureus and Burkholderia cepacia.
Effects of cystic fibrosis on male fertility
Infertility 80-90% due to absence of vas deference
Effect of cystic fibrosis on menarche
Menstruation occurs slightly later in girls with cystic fibrosis and bodyweight is the most significant determinant of menarche.
Maybe amenorrhea in case of poor lung functions.
Best method of contraception in women with cystic fibrosis
The combined oral contraceptive pill (COC) is the most frequently used method.
It is important to advise on the use of additional contraception (for example, condoms) when a woman is taking antibiotics
Average weight gain in pregnancy of healthy women is
10-12 KG
Recommendation regarding pre conceptual councelling for cystic fibrosis
- Patients with poor lung function or pulmonary hypertension must be advised to avoid pregnancy.
- Folic Acid
- Karyotyping partner screeing to calculate carrier risk
- Additional calorific requirements
- GTT for Cystic fibrosis risk of Diabetes
Testing of Diabetes during cystic fibrosis
- Testing for diabetes is especially important
- oral glucose tolerance test performed in the first trimester then at 24–28 weeks of gestation in all women with cystic fibrosis who had normal glucose tolerance prior to pregnancy.
Effects of Cystic fibrosis on pregnancy
- Spontaneous preterm labour
- A low BMI prior to conception increases the incidence of miscarriage and premature delivery.
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Pregnancy outcomes of women with cystic fibrosis
Pregnancy outcomes are usually good. However, nearly 20% of women may not alive to see their child’s 10th birthday.
Folic acid supplementation in women with cystic fibrosis
Folic acid supplementation is recommended prior to conception with 3 months and during the first 12 weeks, to reduce the risk of neural tube defects
mode of delivery in cystic fibrosis
depends on obstetric indications, maternal health and gestational age.
31% were delivered by caesarean section.
Of the women who had vaginal deliveries, 40% required instrumental delivery.
anathesia in cystic fibrosis
General anaesthesia must be avoided
Regional or general anaesthesia can be employed at the time of caesarean delivery depending on the woman’s pulmonary functions and infection status.
