调查数据显示我国现有听力言语残疾人口2780万，占残疾人总数的33％，听力言语残疾者中7岁以下的聋哑患儿高达80万，并以每年新增3万的速度在增长，60岁以上老年人患听力残疾的比例更是高达11％［1］。耳聋的病因复杂，主要分为遗传因...调查数据显示我国现有听力言语残疾人口2780万，占残疾人总数的33％，听力言语残疾者中7岁以下的聋哑患儿高达80万，并以每年新增3万的速度在增长，60岁以上老年人患听力残疾的比例更是高达11％［1］。耳聋的病因复杂，主要分为遗传因素、环境因素以及一些其他不明原因，据估计，遗传因素占耳聋病因的50％以上。根据患者是否伴随其他症状或体征，遗传性聋可分为综合征型聋和非综合征型聋，其中，70％为非综合征型聋（no n -syndromic hearing loss ，NSHL ），30％为综合征型聋（syndromic hearing loss ，SHL）［2］。虽然SHL发病率低于 NSHL ，但由于SHL 患者绝大部分表现为语前聋，除了听力损失外还伴有其他器官系统的疾病，且发病年龄早，表型变化多样，与NSHL相比其遗传背景更为复杂，治疗也更为棘手。本文就常见的常染色体显性遗传性综合征型聋的研究进展以及临床发展情况进行综述。展开更多
Background: Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by L-dopa responsive, diurnally fluctuating dystonia and pa...Background: Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by L-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms. Objective: To delineate the neurological and psychiatric phenotype in all affected individuals of three extended families. Methods: GTP cyclohydrolase deficiency was documented by biochemical analyses, enzymatic measurements in fibroblasts, and molecular investigations. All affected individuals were examined neurologically, and psychiatric data were systematically reviewed. Results: Eighteen affected patients from three families with proven GTP cyclohydrolase deficiency were identified. Eight patients presenting at less than 20 years of age had typical motor symptoms of dystonia with diurnal variation. Five family members had late-presenting mild dopa-responsive symptoms of rigidity, frequent falls, and tendonitis. Among mutation carriers older than 20 years of age, major depressive disorder, often recurrent, and obsessive-compulsive disorder were strikingly more frequent than observed in the general population. Patients responded well to medication increasing serotonergic neurotransmission and to L-dopa substitution. Sleep disorders including difficulty in sleep onset and maintenance, excessive sleepiness, and frequent disturbing nightmares were present in 55% of patients. Conclusion: Physicians should be aware of this expanded phenotype in affected members of families with GTP cyclohydrolase deficiency.展开更多
文摘调查数据显示我国现有听力言语残疾人口2780万，占残疾人总数的33％，听力言语残疾者中7岁以下的聋哑患儿高达80万，并以每年新增3万的速度在增长，60岁以上老年人患听力残疾的比例更是高达11％［1］。耳聋的病因复杂，主要分为遗传因素、环境因素以及一些其他不明原因，据估计，遗传因素占耳聋病因的50％以上。根据患者是否伴随其他症状或体征，遗传性聋可分为综合征型聋和非综合征型聋，其中，70％为非综合征型聋（no n -syndromic hearing loss ，NSHL ），30％为综合征型聋（syndromic hearing loss ，SHL）［2］。虽然SHL发病率低于 NSHL ，但由于SHL 患者绝大部分表现为语前聋，除了听力损失外还伴有其他器官系统的疾病，且发病年龄早，表型变化多样，与NSHL相比其遗传背景更为复杂，治疗也更为棘手。本文就常见的常染色体显性遗传性综合征型聋的研究进展以及临床发展情况进行综述。
文摘Background: Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by L-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms. Objective: To delineate the neurological and psychiatric phenotype in all affected individuals of three extended families. Methods: GTP cyclohydrolase deficiency was documented by biochemical analyses, enzymatic measurements in fibroblasts, and molecular investigations. All affected individuals were examined neurologically, and psychiatric data were systematically reviewed. Results: Eighteen affected patients from three families with proven GTP cyclohydrolase deficiency were identified. Eight patients presenting at less than 20 years of age had typical motor symptoms of dystonia with diurnal variation. Five family members had late-presenting mild dopa-responsive symptoms of rigidity, frequent falls, and tendonitis. Among mutation carriers older than 20 years of age, major depressive disorder, often recurrent, and obsessive-compulsive disorder were strikingly more frequent than observed in the general population. Patients responded well to medication increasing serotonergic neurotransmission and to L-dopa substitution. Sleep disorders including difficulty in sleep onset and maintenance, excessive sleepiness, and frequent disturbing nightmares were present in 55% of patients. Conclusion: Physicians should be aware of this expanded phenotype in affected members of families with GTP cyclohydrolase deficiency.
