Alkhzouz Camelia, Miclea Diana, Bucerzan Simona, Lazea Cecilia, Nascu Ioana, Sido Paula Grigorescu
Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Center of Expertise for Rare Diseases Lysosomal Diseases, Clinical Emergency Hospital for Children, Cluj, Romania.
Med Pharm Rep. 2021 Aug;94(Suppl No 1):S43-S46. doi: 10.15386/mpr-2228. Epub 2021 Aug 10.
The lysosomal storage diseases are a group of monogenic diseases with multisystemic impairment and chronic progression induced by the deficiency of lysosomal acid hydrolases involved in the breakdown of various macromolecules. The accumulation occurs in the macrophages of the reticule-endothelial system and causes enlargement and functional impairment. The mainly involved organs are the brain, liver, spleen, bones, joints, airways, lungs, and heart. The aim of this study was to evaluate early symptoms, signs and the delay in the diagnosis of different lysosomal diseases.
The medical documentation of 188 patients with lysosomal storage disorders, aged 1-70 years, were analyzed. All these patients were specifically diagnosed, by enzyme and molecular assay.
The age of clinical signs onset varies in different type of lysosomal diseases, from the first months of life or early childhood in severe form, to adulthood in attenuated forms. The delay between the clinical signs onset and specific diagnosis ranged from 0.5 months to 57.91 years.
The lysosomal storage diseases are rare diseases with childhood onset, but these early signs and symptoms are not recognized and are often taken into account when the vital organs damage becomes manifest.
溶酶体贮积症是一组单基因疾病，由参与各种大分子分解的溶酶体酸性水解酶缺乏引起，具有多系统损害和慢性进展的特点。蓄积发生在网状内皮系统的巨噬细胞中，导致其肿大和功能损害。主要受累器官包括脑、肝、脾、骨、关节、气道、肺和心脏。本研究的目的是评估不同溶酶体疾病的早期症状、体征及诊断延迟情况。
分析了188例年龄在1至70岁之间的溶酶体贮积症患者的医疗记录。所有这些患者均通过酶学和分子检测进行了明确诊断。
不同类型的溶酶体疾病临床体征出现的年龄各不相同，严重型在出生后的头几个月或幼儿期出现，轻型则在成年期出现。临床体征出现与明确诊断之间的延迟时间为0.5个月至57.91年。
溶酶体贮积症是儿童期发病的罕见疾病，但这些早期症状和体征未得到识别，往往在重要器官损害显现时才被考虑。
