PDF(Pubmed)
Abstract：
Background: Alström syndrome (AS) is an ultrarare multisystemic progressive disease caused by autosomal recessive variations of the ALMS1 gene (2p13). AS is characterized by double sensory impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, early nonalcoholic fatty liver disease, renal dysfunction, respiratory disease, endocrine and urologic disorders. In female AS patients, hyperandrogenism has been described but fertility issues and conception have not been investigated so far. Case: This case report describes the spontaneous conception, pregnancy, and birth in a 27-year-old woman with AS, characterized by a mild phenotype with late onset of visual impairment, residual perception of light, and hypertension. Before pregnancy, menses were regular with increased levels of dihydrotestosterone and androstanediol glucuronide in the follicular phase, and the ovaries and endometrium were normal during vaginal ultrasound. A thorough clinical follow-up of the maternal and fetal conditions was carried out. A weight gain of 10 kg during pregnancy was recorded, and serial blood and urine tests were all within the normal range, except for mild anemia. The course of pregnancy was uneventful up to 34 weeks of gestation when preeclampsia developed with an abnormally high level of blood pressure and edema in the lower limbs. At 35 weeks + 3 days of gestation, an urgent cesarean section was performed, and a healthy male weighing 1,950 g was born. Histological examination of the placenta showed partial signs of flow obstruction, limited abruption areas, congested fetal vessels and villi, and a small single infarcted area. Conclusion: The present case demonstrates for the first time that conceiving is possible for patients with ALMS. Particular attention should be given to the management of AS systemic comorbidities through the course of pregnancy.
摘要：
背景：Alström综合征（AS）是一种由ALMS1基因（2p13）的常染色体隐性遗传变异引起的多系统进行性疾病。AS的特征是双重感觉障碍，心肌病,儿童肥胖，极端胰岛素抵抗,早期非酒精性脂肪性肝病,肾功能不全,呼吸道疾病,内分泌和泌尿系统疾病。在女性AS患者中，已经描述了高雄激素血症，但到目前为止尚未研究生育问题和受孕。案例：此案例报告描述了自发的概念，怀孕,出生在一个27岁的女性身上，以轻度表型为特征，晚发性视力障碍，光的残余感知，和高血压。怀孕前,在卵泡期，月经正常，双氢睾酮和雄甾二醇葡糖苷酸水平升高，阴道超声检查卵巢和子宫内膜正常。对母体和胎儿情况进行了彻底的临床随访。记录了怀孕期间体重增加10公斤，连续的血液和尿液测试都在正常范围内，除了轻度贫血.当先兆子痫出现异常高水平的血压和下肢水肿时，妊娠过程一直持续到妊娠34周。妊娠35周+3天，紧急剖腹产,出生了一个体重1,950克的健康男性。胎盘的组织学检查显示部分血流阻塞的迹象，有限的中断区域，充血的胎儿血管和绒毛,和一个小的单一梗塞区域。结论：本病例首次证明ALMS患者可以怀孕。在整个怀孕过程中，应特别注意AS系统合并症的管理。
