New Alstrom syndrome phenotypes based on the evaluation of 182 cases
New Alstrom syndrome phenotypes based on the evaluation of 182 cases
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DOI：
10.1001/archinte.165.6.675
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发表时间：
2005-03-28
影响因子：
--
通讯作者：
Nishina, PM
中科院分区：
文献类型：
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作者：
Marshall, JD;Bronson, RT;Nishina, PM
背景：阿尔斯特罗姆综合征是一种隐性遗传性疾病，以先天性视网膜营养不良为特征，可导致失明、听力障碍、儿童肥胖、胰岛素抵抗和 2 型糖尿病。我们提供了阿尔斯特罗姆综合征的心脏病、肝脏、胃肠道、泌尿系统、肺和神经行为表型的新细节，并描述了 5 名患者的组织病理学结果。方法：我们通过临床检查、病历审查、标准化问卷以及对医生和家长的个人访谈获得了 182 名患者的数据。结果：60% 的患者发生扩张型心肌病。发病年龄要么是在婴儿期，通常是在注意到视力障碍之前，要么是在青春期或成年期。存在婴儿心肌病复发的风险。高胰岛素血症（92%）在儿童早期出现，16 岁以上人群中 82% 进展为 2 型糖尿病。高甘油三酯血症 (54%) 导致 8 名患者罹患胰腺炎。分别有 48% 和 35% 的患者出现泌尿功能障碍和胃肠道紊乱。百分之五十三的患者有持续的肺部症状。 20% 患者的神经系统症状包括阵挛性抽动和失神发作。 46% 的患者观察到运动或语言发育迟缓。观察到多个器官（即肾、心脏、肝脏、肺、膀胱、性腺和胰腺）的纤维化浸润。结论：本文报道的表型范围广泛且复杂，拓宽了先前描述的阿尔斯特罗姆综合征的表型范围。这些发现将帮助医生做出早期准确的诊断，并有助于进行适当的监测和治疗。
Background: Alstrom syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads to blindness, hearing impairment, childhood obesity, insulin resistance, and type 2 diabetes mellitus. We provide new details on cardiologic, hepatic, gastrointestinal, urologic, pulmonary, and neurobehavioral phenotypes in Alstrom syndrome and describe the histopathologic findings in 5 individuals.Methods: We obtained data on 182 patients from clinical examinations, medical record reviews, standardized questionnaires, and personal interviews with physicians and parents.Results: Dilated cardiomyopathy occurred in 60% of patients. Age at onset was either during infancy, often before vision disturbances were noted, or in adolescence or adulthood. There is a risk of recurrence of infantile cardiomyopathy. Hyperinsulinemia (92%) developed in early childhood and progressed to type 2 diabetes rnellitus in 82% of those older than 16 years. Hypertriglyceridemia (54%) precipitated pancreatitis in 8 patients. Urologic dysfunction and gastrointestinal disturbances occurred in 48% and 35% of patients, respectively. Fifty-three percent of patients had persistent pulmonary symptoms. Neurologic symptoms in 20% of patients included clonic tic and absence seizures. Developmental motor or language delays were observed in 46% of patients. Fibrotic infiltrations of multiple organs, that is, kidney, heart, liver, lung, urinary bladder, gonads, and pancreas, were observed.Conclusions: The wide-ranging and complex spectrum of phenotypes reported herein broadens those previously described for Alstrom syndrome. These findings will aid physicians in making an early and accurate diagnosis and will help effect appropriate monitoring and treatment.