Petrikovsky B M, Vintzileos A M, Cassidy S B, Egan J F
State University of New York, Stony Brook, Department of Obstetrics and Gynecology 11794.
Am J Perinatol. 1990 Apr;7(2):133-5. doi: 10.1055/s-2007-999464.
Tuberous sclerosis is an autosomal dominant disorder of hamartoma formation in which manifestations may occur in skin, brain, and viscera. In the past, it was believed that the typical presentation included seizures, mental retardation, and facial angiofibromas ("adenoma sebaceum"). This disorder is now recognized to show wide variability of expression. There are only four cases of tuberous sclerosis in pregnancy in the literature. Two of these had favorable maternal and fetal outcomes and the remaining two presented with serious maternal and fetal complications. These included acute intra-abdominal bleeding due to a ruptured renal tumor, which led to renal failure requiring hemodialysis, and severe preeclampsia with pathologically enlarged kidneys noted at the time of cesarean section. This study presents two more cases of tuberous sclerosis in pregnancy. The first case had renal involvement with bleeding into a renal cyst, renal failure, preeclampsia, and severe intrauterine growth retardation. The second case was complicated by preterm premature rupture of the membranes and preterm labor. Renal involvement appears to be the single most important prognostic factor in pregnancies with tuberous sclerosis. Renal evaluation should be performed in any patient who presents for preconceptional counseling.
结节性硬化症是一种常染色体显性错构瘤形成障碍性疾病，其症状可出现在皮肤、大脑和内脏。过去，人们认为典型表现包括癫痫发作、智力迟钝和面部血管纤维瘤（“皮脂腺瘤”）。现在已知这种疾病的表现具有很大的变异性。文献中仅有4例妊娠合并结节性硬化症的病例。其中2例母婴结局良好，其余2例出现了严重的母婴并发症。这些并发症包括肾肿瘤破裂导致的急性腹腔内出血，进而发展为需要血液透析的肾衰竭，以及剖宫产时发现肾脏病理性肿大的严重先兆子痫。本研究又报告了2例妊娠合并结节性硬化症的病例。第一例有肾脏受累，肾囊肿出血、肾衰竭、先兆子痫和严重的宫内生长受限。第二例并发胎膜早破和早产。肾脏受累似乎是妊娠合并结节性硬化症最重要的单一预后因素。对任何前来接受孕前咨询的患者都应进行肾脏评估。
