Propionic acidemia: neonatal versus selective metabolic screening
Propionic acidemia: neonatal versus selective metabolic screening
复制标题
DOI：
10.1007/s10545-011-9419-0
复制
发表时间：
2012-01-01
影响因子：
4.2
通讯作者：
Sass, J. O.
中科院分区：
文献类型：
--
作者：
Gruenert, S. C.;Muellerleile, S.;Sass, J. O.
丙酸血症（PA）是许多国家新生儿筛查（NBS）的目标疾病，但在其他国家并非如此。NBS的好处PA的数据是sparsely.Study设计20 PA患者诊断通过NBS进行了比较，35例患者诊断的选择性代谢筛查（SMS）提示的临床结果，家族史，或常规实验室检查结果。对来自德国、奥地利和瑞士16个代谢中心的患者的临床和生化数据进行回顾性评价。此外，还进行了智商（IQ）评估。在第二步中，PA患者谁在过去20年内死亡的人数估计的基础上提供的信息参与metabolic centers.Results通过NBS诊断的患者既没有一个温和的临床过程中代谢危机的数量，也没有更好的神经系统的结果。在NBS患者中，63%在诊断时已经有症状，< 10%的患者仍然无症状。在所有PA患者中，76%被发现至少有轻度智力迟钝，智商< 69。智商与代谢失代偿的数量呈负相关，但不只是与患者的年龄相关。大多数患者的身体发育也受损。结论NBS早期诊断PA患者死亡率较SMS低。然而，对于存活患者的临床病程，包括代谢危机的数量，身体和神经认知发育以及长期并发症，没有显着的益处。
Background Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse.Study design Twenty PA patients diagnosed through NBS were compared to 35 patients diagnosed by selective metabolic screening (SMS) prompted by clinical findings, family history, or routine laboratory test results. Clinical and biochemical data of patients from 16 metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively. Additionally, assessment of the intelligent quotient (IQ) was performed. In a second step, the number of PA patients who have died within the past 20 years was estimated based on information provided by the participating metabolic centers.Results Patients diagnosed through NBS had neither a milder clinical course regarding the number of metabolic crises nor a better neurological outcome. Among NBS patients, 63% were already symptomatic at the time of diagnosis, and < 10% of all patients remained asymptomatic. Among all PA patients, 76% were found to be at least mildly mentally retarded, with an IQ < 69. IQ was negatively correlated with the number of metabolic decompensations, but not simply with the patients' age. Physical development was also impaired in the majority of patients. Mortality rates tended to be lower in NBS patients compared with patients diagnosed by SMS.Conclusion Early diagnosis of PA through NBS seems to be associated with a lower mortality rate. However, no significant benefit could be shown for surviving patients with regard to their clinical course, including the number of metabolic crises, physical and neurocognitive development, and long-term complications.