Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: Assessment of effects on cognitive functions and general status of patients
Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: Assessment of effects on cognitive functions and general status of patients
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DOI：
10.12659/msm.881715
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发表时间：
2011-04-01
影响因子：
3.1
通讯作者：
Wegrzyn, Grzegorz
中科院分区：
文献类型：
--
作者：
Piotrowska, Ewa;Jakobkiewicz-Banecka, Joanna;Wegrzyn, Grzegorz
背景资料：粘多糖贮积症（MPS）是一种遗传性代谢紊乱，由参与糖胺聚糖降解的酶缺乏引起。MPS III型（Sanfilippo病）的临床特征主要是进行性和严重的行为障碍和认知功能障碍。最近1年的实验性治疗10例患者的染料木素（4 '，5，7-三羟基黄酮）丰富的提取物导致测试参数的改善，包括认知和行为functions.Material/Methods：8名儿童Sanfilippo病患者参加了这项研究。使用改良版简明评估检查评估认知功能。此外，18个不同的参数有关的患者的病情变化进行了评估，他们的parents.Results：在治疗的第一年，在7例患者的认知功能的改善和稳定的1例患者进行了评估，而在第三年（2年随访）后，进一步改善观察到2例患者，稳定的3例患者和一些恶化的3例患者。对一般和行为症状的监测显示，所有患者在治疗第一年后均有所改善，5例患者进一步改善，3例患者在接下来的2年内恶化。我们的结论是，用富含染料木黄酮的大豆提取物治疗圣菲利波病患者（称为基因表达靶向治疗[GET IT]）可能有效抑制（在一些患者中）或减缓（在其他患者中）的行为和认知问题。增加染料木黄酮的剂量可以提高治疗效果。
Background: Mucopolysaccharidoses (MPS) are inherited metabolic disorders caused by deficiencies in enzymes involved in degradation of glycosaminoglycans. MPS type III (Sanfilippo disease) is clinically characterized mainly by progressive and severe behavioral disturbances and cognitive dysfunction. Recent 1-year experimental treatment of 10 patients with a genistein (4', 5, 7-trihydroxyisoflavone)-rich extract resulted in improvement of tested parameters, including cognitive and behavioral functions.Material/Methods: Eight pediatric patients with Sanfilippo disease were enrolled into the study. The modified version of the Brief Assessment Examination was used to assess cognitive functions. Moreover, 18 different parameters concerning changes in conditions of patients were assessed by their parents.Results: During the first year of the treatment, an improvement of cognitive functions in 7 patients and stabilization in 1 patient were assessed, while after the third year (2-year follow-up) further improvement was observed in 2 patients, stabilization in 3 patients and some deterioration in 3 patients. Monitoring of general and behavioral symptoms revealed improvement in all patients after the first year of the treatment, further improvement in 5 patients, and deterioration in 3 patients during the next 2 years.Conclusions: We conclude that the treatment of Sanfilippo patients with a genistein-rich soy isoflavone extract (called gene expression-targeted isoflavone therapy [GET IT]) may be effective in either inhibition (in some patients) or slowing down (in other patients) of behavioral and cognitive problems over a longer period. An increased dose of genistein may improve the efficacy of the treatment.