Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience
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DOI：
10.1007/8904_2016_24
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发表时间：
2017-01-01
期刊：
影响因子：
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通讯作者：
Sheth, Frenny
中科院分区：
文献类型：
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作者：
Sheth, Jayesh;Mistri, Mehul;Sheth, Frenny
溶酶体贮积症（LSD）是罕见的遗传性神经内脏先天性代谢错误，在怀孕期间可能表现为非免疫性胎儿水肿（NIHF）。尽管 NIHF 的病因多种多样，但 LSD 是 NIHF 的根本原因之一。本研究的目的是阐明印度人群中 LSD 表现为 NIHF 的最常见原因。 2006 年至 2016 年在我们的国家三级中心进行的当前前瞻性研究中，使用改良的荧光测定法对几个胎儿组织进行了 LSD 的酶诊断。排除了 NIHF 的其他一般原因。百分之二十一 (7/ 33) 的病例被确认患有 LSD。两名患者被诊断患有 Hurler 综合征；两名患有斯莱综合征，一名患有 A/B 型尼曼-皮克病、戈谢病和粘脂沉积症。 11 例复发性 NIHF 病例中，有 4 例 (36%) 被发现患有 LSD。尽管 LSD 极为罕见，但应将其视为 NIHF 的潜在原因，尤其是复发性 NIHF。 LSD 的具体研究导致明确诊断可能有助于临床医生为患者提供准确的遗传咨询和产前诊断，并有助于家庭随后的怀孕。此外，如果可以的话，可以计划对溶酶体贮积症进行早期干预和酶替代疗法的治疗。
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016. Other general causes of NIHF were ruled out. Twenty-one percent (7/ 33) of cases were confirmed to have LSDs. Two patients were diagnosed with Hurler syndrome; two had Sly syndrome and one each of Niemann-Pick disease type A/B, Gaucher's disease, and mucolipidosis. Four of eleven cases (36%) with recurrent NIHF were found to have LSDs. In spite of extreme rarity of LSDs, they should be considered as a potential cause of NIHF, especially with recurrent NIHF. Specific investigations of LSD leading to definitive diagnosis may aid the clinician in providing accurate genetic counseling and prenatal diagnosis to the patients and help in subsequent pregnancies to the families. Furthermore, early intervention and management with enzyme replacement therapy may be planned for the lysosomal storage disorders where available.