Staretz-Chacham Orna, Lang Tess C, LaMarca Mary E, Krasnewich Donna, Sidransky Ellen
Office of the Clinical Director, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Dr, MSC 3708, Bethesda, MD 20892-3708, USA.
Pediatrics. 2009 Apr;123(4):1191-207. doi: 10.1542/peds.2008-0635.
Lysosomal storage disorders are rare inborn errors of metabolism, with a combined incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom considered when evaluating a sick newborn. A significant number of the >50 different lysosomal storage disorders, however, do manifest in the neonatal period and should be part of the differential diagnosis of several perinatal phenotypes. We review the earliest clinical features, diagnostic tests, and treatment options for lysosomal storage disorders that can present in the newborn. Although many of the lysosomal storage disorders are characterized by a range in phenotypes, the focus of this review is on the specific symptoms and clinical findings that present in the perinatal period, including neurologic, respiratory, endocrine, and cardiovascular manifestations, dysmorphic features, hepatosplenomegaly, skin or ocular involvement, and hydrops fetalis/congenital ascites. A greater awareness of these features may help to reduce misdiagnosis and promote the early detection of lysosomal storage disorders. Implementing therapy at the earliest stage possible is crucial for several of the lysosomal storage disorders; hence, an early appreciation of these disorders by physicians who treat newborns is essential.
溶酶体贮积症是罕见的先天性代谢缺陷病，活产婴儿中的合并发病率为1/1500至1/7000。在评估患病新生儿时，这些相对罕见的疾病很少被考虑。然而，超过50种不同的溶酶体贮积症中有相当一部分在新生儿期就会出现症状，应作为几种围产期表型鉴别诊断的一部分。我们回顾了新生儿期可能出现的溶酶体贮积症的最早临床特征、诊断测试和治疗选择。虽然许多溶酶体贮积症具有多种表型，但本综述的重点是围产期出现的特定症状和临床发现，包括神经、呼吸、内分泌和心血管表现、畸形特征、肝脾肿大、皮肤或眼部受累以及胎儿水肿/先天性腹水。对这些特征有更多的认识可能有助于减少误诊并促进溶酶体贮积症的早期发现。对于几种溶酶体贮积症来说，尽早实施治疗至关重要；因此，治疗新生儿的医生尽早认识这些疾病至关重要。
