Montanari Giulia, Candela Egidio, Baronio Federico, Ferrari Vittorio, Biasucci Giacomo, Lanari Marcello, Ortolano Rita
Specialty School of Pediatrics, Alma Mater Studiorum, University of Bologna, 40126 Bologna, Italy.
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Children (Basel). 2025 Apr 4;12(4):464. doi: 10.3390/children12040464.
Expanded Newborn Screening (ENS) allows the early identification of many inherited metabolic diseases (IMDs) for which timely treatment can modify the natural history. For most IMDs, diagnosis by ENS is pre-clinical. However, clinical symptoms may emerge for certain conditions before screening results become available.
We describe six cases of patients with early-onset IMDs born between 2013 and 2023, who were admitted or transferred to Sant'Orsola University Hospital in Bologna (Italy).
Over the study period, 379,013 newborns underwent ENS in the Italian region of Emilia-Romagna. Excluding cases of congenital hypothyroidism, pre-clinical diagnoses from ENS were 410. In addition, six cases of IMD presented with early-onset clinical symptomatology, an antecedent to the outcome of newborn screening (incidence over 11 years of 1.58 cases per 100,000 infants). Among these patients, three were diagnosed with Urea Cycle Disorders (UCDs)-two with Citrullinemia type I (CIT1) and one with Argininosuccinic Acidemia (ASA); two were diagnosed with Methylmalonic Acidemia (MMA); and one was found to have Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD).
Our 11-year experience with ENS has shown that clinical onset can occur between the second and fourth day of life, though rare. Even if dried blood spot (DBS) collection was performed 24-48 h after birth, the time required for sample transportation and processing would still delay result availability, making early intervention unlikely. Therefore, our experience supports performing ENS at 48-72 h, as currently implemented in Italy, while also highlighting the advantages and limitations of earlier screening.
扩大新生儿筛查（ENS）能够早期识别多种遗传性代谢疾病（IMD），及时治疗可改变这些疾病的自然病程。对于大多数IMD而言，ENS诊断处于临床前阶段。然而，在某些情况下，临床症状可能在筛查结果出来之前就已出现。
我们描述了2013年至2023年间出生的6例早发性IMD患者，他们被收治或转至意大利博洛尼亚的圣奥索拉大学医院。
在研究期间，意大利艾米利亚 - 罗马涅地区有379,013名新生儿接受了ENS。排除先天性甲状腺功能减退症病例后，ENS的临床前诊断有410例。此外，6例IMD患者出现了早发性临床症状，这先于新生儿筛查结果（11年期间发病率为每100,000名婴儿中有1.58例）。在这些患者中，3例被诊断为尿素循环障碍（UCD）——2例为I型瓜氨酸血症（CIT1），1例为精氨琥珀酸血症（ASA）；2例被诊断为甲基丙二酸血症（MMA）；1例被发现患有中链酰基辅酶A脱氢酶缺乏症（MCADD）。
我们11年的ENS经验表明，临床发病可能在出生后第二至四天出现，尽管较为罕见。即使在出生后24 - 48小时进行了干血斑（DBS）采集，样本运输和处理所需的时间仍会延迟结果的获取，使得早期干预不太可能。因此，我们的经验支持按照意大利目前的做法在48 - 72小时进行ENS，同时也强调了早期筛查的优点和局限性。
