Schwartz S M, Viseskul C, Laxova R, McPherson E W, Gilbert E F
Am J Med Genet. 1981;8(1):59-66. doi: 10.1002/ajmg.1320080108.
We report four patients with idiopathic hydrops fetalis (IHF), two being affected sibs; the latter represent the first reported familial occurrence. A review identified 45 additional cases that seem to represent 1/3 to 2/3 of all cases of hydrops fetalis of nonimmunologic origin (NIHF). Our patients and the other adequately documented cases permit delineation of "idiopathic" fetal hydrops; ie, that form of the condition which is not associated with any detectable fetal or maternal disorders. These fetuses are usually premature, often the product of a gestation complicated by pre-eclampsia, occasional maternal anemia, and most often polyhydramnios. The fetuses have striking edema of most tissues with effusions into serous cavities, but no other specific anatomic abnormalities. They are often hypoproteinemic, but not anemic and do not manifest signs of accelerated hematopoiesis. Results of fetal and maternal immunohematological examination are normal. Fetal mortality rates approach 100% but recent data suggest that salvage rates can be significantly improved with early diagnosis. This requires accurate diagnosis and all factors and conditions known to be associated with other types of NIHF should be excluded. A relationship between fetal hypoalbuminemia and IHF may exist and needs further investigation, IHF is sporadic in most instances; however, recessive inheritance may be indicated by occurrence in two sibs. IHF represents a distinct, frequently unrecognized and relatively common entity in need of further study and increased recognition.
我们报告了4例特发性胎儿水肿(IHF)患者,其中2例为患病同胞;后者是首次报道的家族性病例。一项综述发现了另外45例病例,这些病例似乎占所有非免疫性胎儿水肿(NIHF)病例的1/3至2/3。我们的患者及其他有充分记录的病例有助于明确“特发性”胎儿水肿;即这种情况的形式与任何可检测到的胎儿或母体疾病无关。这些胎儿通常早产,往往是妊娠期并发子痫前期、偶发母体贫血且最常见羊水过多的产物。胎儿大多数组织有明显水肿,伴有浆液腔积液,但无其他特定解剖异常。他们常低蛋白血症,但不贫血,也不表现出造血加速迹象。胎儿和母体免疫血液学检查结果正常。胎儿死亡率接近100%,但最近的数据表明,早期诊断可显著提高挽救率。这需要准确诊断,且应排除所有已知与其他类型NIHF相关的因素和情况。胎儿低白蛋白血症与IHF之间可能存在关联,需要进一步研究。IHF在大多数情况下是散发性的;然而,两个同胞患病可能提示隐性遗传。IHF是一种独特的、常未被认识且相对常见的疾病实体,需要进一步研究并提高认识。