Warzok R, Wattig B, Seidlitz G
Institut für Pathologische Anatomie, Ernst-Moritz-Arndt-Universität, Greifswald, DDR.
Zentralbl Allg Pathol. 1990;136(1-2):43-57.
Mucopolysaccharidoses are autosomal recessive or X-linked hereditary lysosomal storage diseases occurring to one in 10,000 to 16,000 births. The definitive diagnosis is based on the biochemical verification of the enzyme defect in cultured fibroblasts of amniotic fluid cells, in amniotic fluid, in chorionic biopsies and by determination of the urinary excretion of glycosaminoglycans. Morphological studies are of utmost importance both for genetic counselling and enlightenment of the pathogenesis. In recent years, numerous reports appeared dealing with morphological changes in different types of mucopolysaccharidoses. Based on own studies in pre- and postnatal cases, the present paper gives an update review on light and electron microscopic peculiarities of the different types and subtypes of mucopolysaccharidoses according to the classification of MCKUSICK and NEUFELD (1983). Lysosomal storage is found in practically all organs. However, there are quantitative and qualitative differences which are responsible for variations in clinical symptomatology. The purpose of this paper is to describe these differences with particular emphasis on changes in various tissues, on the pathogenetic mechanism of the storage as well as on pre- and postnatal morphological diagnostics.
黏多糖贮积症是常染色体隐性或X连锁的遗传性溶酶体贮积病，发病率为1/10000至1/16000。确诊基于对羊水细胞、羊水中、绒毛活检培养的成纤维细胞中酶缺陷的生化验证，以及对糖胺聚糖尿排泄的测定。形态学研究对于遗传咨询和发病机制的阐释极为重要。近年来，出现了许多关于不同类型黏多糖贮积症形态学变化的报道。基于对产前和产后病例的自身研究，本文根据MCKUSICK和NEUFELD（1983年）的分类，对黏多糖贮积症不同类型和亚型的光镜和电镜特征进行了更新综述。几乎在所有器官中都发现了溶酶体贮积。然而，存在数量和质量上的差异，这些差异导致了临床症状的变化。本文的目的是描述这些差异，特别强调各种组织的变化、贮积的发病机制以及产前和产后的形态学诊断。
