Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
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DOI：
10.1186/s13023-016-0471-6
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发表时间：
2016-06-27
影响因子：
3.7
通讯作者：
Lin SP
中科院分区：
文献类型：
--
作者：
Lin HY;Chuang CK;Huang YH;Tu RY;Lin FJ;Lin SJ;Chiu PC;Niu DM;Tsai FJ;Hwu WL;Chien YH;Lin JL;Chou YY;Tsai WH;Chang TM;Lin SP
粘多糖样沉积症II型（MPS II）是一种X连锁隐性、多系统性溶酶体贮积症，由艾杜糖醛酸-2-硫酸酯酶缺乏引起。MPS II具有不同的发病年龄和不同的进展速率。在亚洲国家，与其他类型的MPS相比，MPS II的发生率相对较高。对1995年至2012年期间死亡的34例台湾MPS II患者进行了回顾性分析。对临床特征、医疗记录、死亡年龄和死亡原因进行了评价，以更好地了解这种疾病的自然进展。31例重度患者的平均死亡年龄为13.2 ± 3.2岁，而3例轻度患者的平均死亡年龄为22.6 ± 4.3岁，其中2例轻度患者无认知损害，1例中度患者有认知损害（p <0.001）。出现症状和确诊时的平均年龄分别为2.5 ± 2.1岁和4.8 ± 3.1岁（n = 32）。呼吸衰竭是死亡的主要原因（56%），其次是心力衰竭（18%）、创伤后器官衰竭（3%）和感染（败血症）（3%）（n = 27）。发病年龄与平均寿命呈正相关（p <0.01）。从1995年到2012年，寿命逐渐增加（p <0.05）。呼吸衰竭和心力衰竭是这些患者死亡的两个主要原因。近十年来，台湾MPS II患者的预期寿命有所改善。
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive, multisystemic lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. MPS II has a variable age of onset and variable rate of progression. In Asian countries, there is a relatively higher incidence of MPS II compared to other types of MPS. A retrospective analysis was carried out of 34 Taiwanese MPS II patients who died between 1995 and 2012. The clinical characteristics, medical records, age at death, and cause of death were evaluated to better understand the natural progression of this disease. The mean age at death of 31 of the patients with a severe form of the disease with significant cognitive impairment was 13.2 ± 3.2 years, compared with 22.6 ± 4.3 years in the three patients with a mild form of the disease without cognitive involvement (n = 2) or the intermediate form (n = 1) (p < 0.001). The mean ages at onset of symptoms and confirmed diagnosis were 2.5 ± 2.1 and 4.8 ± 3.1 years, respectively (n = 32). Respiratory failure was the leading cause of death (56 %), followed by cardiac failure (18 %), post-traumatic organ failure (3 %), and infection (sepsis) (3 %) (n = 27). Age at onset of symptoms was positively correlated with life expectancy (p < 0.01). Longevity gradually increased over time from 1995 to 2012 (p < 0.05). Respiratory failure and cardiac failure were the two major causes of death in these patients. The life expectancy of Taiwanese MPS II patients has improved in recent decade.