Universidade Federal do Rio Grande do Sul-PPG Saúde da Criança e do Adolescente, Ramiro Barcelos 2400 /sala 220, Atanásio Belmonte 515/502, Porto Alegre, RS, 90520550, Brazil.
Hospital de Clínicas de Porto Alegre, Ramiro Barcelos 2350 /sala 1131, Porto Alegre, Brazil.
J Med Case Rep. 2022 May 31;16(1):230. doi: 10.1186/s13256-022-03399-3.
We present the first case to our knowledge of a spontaneous twin pregnancy in a 16-year-old Caucasian patient with cystic fibrosis and systemic lupus erythematosus. Cystic fibrosis is one of the most common autosomal recessive genetic disorders and primarily affects the respiratory and digestive systems. Systemic lupus erythematosus is a chronic inflammatory disease of unknown cause that affects nearly every organ. Patients with cystic fibrosis or systemic lupus erythematosus are progressively having longer life expectancy and better quality of life, which has led a greater number of female patients reporting the desire to become mothers.
We present a case of a Caucasian 16-year-old pregnant with twins being treated for both cystic fibrosis and systemic lupus erythematosus. She has two CFTR mutations: p.F508del and 1812_1G>A. In the second trimester, she was admitted for possible preterm labor, which was successfully stopped. The patient's nutritional status worsened, and she had a pulmonary exacerbation as well as a flare of systemic lupus erythematosus. At the 28th gestational week, she presented with a massive hemoptysis episode. The cesarean delivery had no complications, and there were no serious immediate postpartum complications.
While adolescent pregnancies in and of themselves are considered high risk for both the young mothers and their children, they are further complicated when the mother has two chronic diseases and a twin pregnancy. We achieved positive results using a multidisciplinary approach; however, the risks involved were so high that major efforts are to be taken by our medical community to prevent unplanned pregnancies in all patients with cystic fibrosis, especially when a serious comorbidity like the one in this case is present.
我们报告首例已知病例，一名 16 岁白人女性患者患有囊性纤维化和系统性红斑狼疮，自发性双胎妊娠。囊性纤维化是最常见的常染色体隐性遗传疾病之一，主要影响呼吸系统和消化系统。系统性红斑狼疮是一种病因不明的慢性炎症性疾病，几乎影响所有器官。囊性纤维化或系统性红斑狼疮患者的预期寿命和生活质量逐渐提高，这导致越来越多的女性患者希望成为母亲。
我们报告了一例白人 16 岁孕妇，怀有双胞胎，同时患有囊性纤维化和系统性红斑狼疮。她有两种 CFTR 突变：p.F508del 和 1812_1G>A。在妊娠中期，她因可能早产住院，早产得到成功治疗。患者的营养状况恶化，出现了肺部恶化和系统性红斑狼疮发作。在 28 孕周时，她出现了大量咯血。剖宫产无并发症，产后无严重并发症。
虽然青少年怀孕本身对年轻母亲及其子女来说风险较高，但当母亲患有两种慢性疾病和双胎妊娠时，情况就更加复杂了。我们采用多学科方法取得了积极的结果；然而，涉及的风险如此之高，我们的医学界必须做出重大努力，以防止所有囊性纤维化患者意外怀孕，特别是在存在这种严重合并症的情况下。
