■非酮症性高血糖症(NKH)是一种罕见的,危及生命的遗传病.患者通常表现出异质性和非特异性症状,导致使用常规方法的诊断挑战。这里,对20例中国患者的临床表现和遗传特征进行检查和报告,以阐明中国NKH的自然史和预后。
■综述了中国有关NKH的人类基因突变数据库和文献。发病年龄,临床特征,遗传分析,头颅磁共振成像(MRI)和脑电图(EEG)检查,并对患者的结局进行分析。描述了在我们中心随访的五名患者的自然史经验和随访分析。
■在所有20名NKH患者中,17(85%)为新生儿型,3(15%)为婴儿型,没有发现迟发性病例.患者入院时出现癫痫发作史(15/20),嗜睡(14/20),低张力(11/20),呼吸暂停(9/20),和微弱的抽泣(4/20)。脑部MRI检查结果包括内囊异常信号,小脑,或脑干(6/14),call体发育不良(5/14),和白质异常(3/14)。EEG评估显示异常,例如爆发抑制(4/8)和心律失常和/或癫痫活动(6/8)。脑脊液(CSF)甘氨酸水平的中值,血浆甘氨酸水平和CSF/血浆甘氨酸比率为135.2(范围,6.3-546.3)μmol/L,998.2(范围,75-3,084)μmol/L,0.16(范围,0.03-0.60)分别。遗传分析揭示了四个新的变异和GLDC,AMT基因异常13例(65%),7例(35%),分别。有18例患者的预后信息:9例死亡,八个在新生儿期。在九名幸存者中,观察到不同的发育障碍。
■在中国NKH患者中发现了不同的疾病过程和结局,根据这项研究。最初的临床表现,CSF甘氨酸水平和CSF与血浆甘氨酸的比率不能可靠地预测预后,而MRI和EEG异常可能表明前景不佳。对于出现特定症状的新生儿,应考虑NKH诊断。本调查提供的临床数据支持在中国诊断和治疗NKH的标准化方案的发展。
UNASSIGNED: Nonketotic hyperglycinemia (NKH) is a rare, life-threatening genetic disorder. The patients usually show heterogeneous and nonspecific symptoms, resulting in diagnosis challenges using conventional approaches. Here, the clinical presentation and genetic features of 20 Chinese patients were examined and reported in order to clarify the natural history and prognosis of NKH in China.
UNASSIGNED: The Human Gene Mutation Database and literature regarding NKH in China were reviewed. Age of onset, clinical characteristics, genetic analysis, cranial magnetic resonance imaging (MRI) and electroencephalography (EEG) examinations, and outcome of the patients were analyzed. Natural history experiences and follow-up assays for five patients who were followed in our center were described.
UNASSIGNED: Among all 20 NKH patients, 17 (85%) had the neonatal type and 3 (15%) had the infantile type, no late-onset cases were detected. Patients showed up for admission with a history of seizures (15/20), lethargy (14/20), hypotonia (11/20), apnea (9/20), and feeble sobbing (4/20). Brain MRI findings included abnormal signals in the internal capsule, cerebellum, or brainstem (6/14), dysplasia of the corpus callosum (5/14), and white matter abnormalities (3/14). EEG evaluations showed anomalies such as burst suppression (4/8) and hypsarrhythmia and/or epileptic activity (6/8). Median values of cerebrospinal fluid (CSF) glycine levels, plasma glycine levels and CSF/plasma glycine ratios were135.2 (range, 6.3-546.3) μmol/L, 998.2 (range,75-3,084) μmol/L, 0.16 (range, 0.03-0.60) respectively. Genetic analyses revealed four new variations and GLDC, AMT gene abnormalities in 13 (65%), 7 (35%) case, respectively. Prognosis information was available for 18 cases: nine patients died, eight in the neonatal period. Among the nine survivors, varying developmental disorders were observed.
UNASSIGNED: Different disease processes and outcomes were found in Chinese NKH patients, according to this study. The initial clinical presentations, CSF glycine levels and CSF to plasma glycine ratios do not reliably predict prognosis, while MRI and EEG abnormalities may indicate a poor outlook. NKH diagnosis should be considered for neonates presenting specific symptoms. The present survey provides clinical data that support the development of a standardized protocol for diagnosing and treating NKH in China.