Kim Min-Sun, Yang Aram, Noh Eu-Seon, Kim Chiwoo, Bae Ga Young, Lim Han Hyuk, Park Hyung-Doo, Cho Sung Yoon, Jin Dong-Kyu
Department of Pediatrics, Samsung Medical Centre, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul 03181, Korea.
J Pers Med. 2022 Apr 21;12(5):665. doi: 10.3390/jpm12050665.
Mucopolysaccharidosis type III (MPS III) is an autosomal recessive lysosomal storage disorder characterised by progressive neurocognitive deterioration. MPS III subtypes are clinically indistinguishable, with a wide range of symptoms and variable severity. The natural history of this disorder within an Asian population has not yet been extensively studied. This study investigated the natural history of Korean patients with MPS III.
Thirty-four patients from 31 families diagnosed with MPS III from January 1997 to May 2020 in Samsung Medical Centre were enrolled. Clinical, molecular, and biochemical characteristics were retrospectively collected from the patients' medical records and via interviews.
18 patients had MPS IIIA, 14 had IIIB, and two had IIIC. Twenty (58.9%) patients were male. Mean age at symptom onset was 2.8 ± 0.8 years and at diagnosis was 6.3 ± 2.2 years. All patients with MPS IIIA and IIIB were classified into the rapidly progressing (RP) phenotype. The most common symptom at diagnosis was language retardation (88.2%), followed by motor retardation (76.5%), general retardation (64.7%), and hyperactivity (41.2%). Language retardation was more predominant in IIIA, and motor retardation was more predominant in IIIB. The mean age of the 13 deceased patients at the time of the study was 14.4 ± 4.1 years. The age at diagnosis and lag time were significantly older and longer in the non-survivor group compared with the survivor group ( = 0.029 and 0.045, respectively). Genetic analysis was performed in 24 patients with MPS III and identified seven novel variants and three hot spots.
This study is the first to analyse the genetic and clinical characteristics of MPS III patients in Korea. Better understanding of the natural history of MPS III might allow early diagnosis and timely management of the disease and evaluation of treatment outcomes in future clinical trials for MPS III.
Ⅲ型黏多糖贮积症（MPS III）是一种常染色体隐性溶酶体贮积病，其特征为进行性神经认知功能衰退。MPS III各亚型在临床上难以区分，症状范围广泛且严重程度各异。该疾病在亚洲人群中的自然病史尚未得到广泛研究。本研究调查了韩国MPS III患者的自然病史。
纳入1997年1月至2020年5月在三星医疗中心确诊为MPS III的31个家庭的34例患者。通过回顾患者病历及访谈，收集临床、分子及生化特征。
18例患者为MPS IIIA，14例为IIIB，2例为IIIC。20例（58.9%）患者为男性。症状出现的平均年龄为2.8±0.8岁，确诊时的平均年龄为6.3±2.2岁。所有MPS IIIA和IIIB患者均被归类为快速进展（RP）表型。确诊时最常见的症状是语言发育迟缓（88.2%），其次是运动发育迟缓（76.5%）、全面发育迟缓（64.7%）和多动（41.2%）。语言发育迟缓在IIIA中更常见，运动发育迟缓在IIIB中更常见。13例死亡患者在研究时的平均年龄为14.4±4.1岁。与存活组相比，非存活组的确诊年龄和延迟时间明显更大和更长（分别为P = 0.029和0.045）。对24例MPS III患者进行了基因分析，鉴定出7个新变体和3个热点。
本研究首次分析了韩国MPS III患者的基因和临床特征。更好地了解MPS III的自然病史可能有助于早期诊断和及时治疗该疾病，并在未来MPS III的临床试验中评估治疗效果。
