Secció Errors Congènits del Metabolisme-IBC, Serv. Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Barcelona, Spain
Prenat Diagn. 2012 Dec;32(12):1139-42. doi: 10.1002/pd.3972. Epub 2012 Sep 18.
Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protocol to investigate the most frequent lysosomal diseases that are reported that may cause NIHF.
We analysed the glycosaminoglycans excretion in the amniotic fluid supernatant and four different lysosomal enzymatic activities in the amniotic cultured cells of the different NIHF amniotic fluids we received.
We investigated 30 NIHF cases, using this fast protocol. We detected two cases of NIHF because of lysosomal diseases, which represent 6.6%. We diagnosed one case of mucopolysaccharidosis type VII and one case of Gaucher disease.
The fast protocol we designed analyses seven of the most frequent lysosomal pathologies that have been described that may cause NIHF, with only five different determinations, which make the analysis of NIHF fast, cost-effective and without need of too much amniotic fluid. We believe this protocol may be useful for the analysis of lysosomal diseases in NIHF.
非免疫性胎儿水肿（NIHF）是由于非免疫原因导致胎儿多个腔室和体腔中过多液体积聚而定义的。已有描述表明，14 种溶酶体疾病可能导致 NIHF。本研究旨在设计一种快速方案，以研究最常见的溶酶体疾病，这些疾病可能导致 NIHF。
我们分析了我们收到的不同 NIHF 羊水的羊水上清液中糖胺聚糖的排泄和羊水培养细胞中的四种不同溶酶体酶活性。
我们使用此快速方案研究了 30 例 NIHF 病例。我们检测到两例由溶酶体疾病引起的 NIHF，占 6.6%。我们诊断出一例黏多糖贮积症 VII 型和一例戈谢病。
我们设计的快速方案分析了七种最常见的溶酶体病理，这些病理已被描述可能导致 NIHF，仅需进行五种不同的测定，这使得 NIHF 的分析快速、经济有效，且不需要过多的羊水。我们认为该方案可能有助于 NIHF 中溶酶体疾病的分析。
