Division of Neonatology, Department of Pediatrics, Gaziantep University, Gaziantep 27410, Turkey.
Division of Neonatology, Department of Pediatrics, Diyarbakir Children's Diseases Hospital, 21100 Yenisehir, Diyarbakir, Turkey.
J Trop Pediatr. 2022 Oct 6;68(6). doi: 10.1093/tropej/fmac098.
Classic galactosemia (CG) is a rare hereditary disease that can cause serious morbidity and death if it is not diagnosed and treated in early periods of life. Clinical findings usually occur in the neonatal period after the neonate is fed with milk that contains galactose. Most patients are presented with jaundice, hepatomegaly, hypoglycemia and cataracts.
We aimed to document the clinical, molecular characteristics, regional estimated incidence and time of diagnosis in newborn with CG.
The data of 63 newborn with CG who were diagnosed and followed up between January 2011 and January 2018 were analyzed retrospectively.
During the study period, 63 (33 boys and 30 girls) newborns were diagnosed with CG. The median gestational age was 39 weeks (33-42). Major presenting symptoms were jaundice 90.5% and cataract 41.2%. The mean age at first symptom was 12 ± 7.4 days while the mean age at diagnosis was 18.9 ± 10.6 days. Nearly half of the patients (55.5%) were diagnosed later than the postnatal 15th day. Genetic analysis was performed on 56 patients and homozygous Q188R mutation was found in 92.8%. There were signs of sepsis in 33.3% of the cases. Six patients died due to sepsis. There was consanguinity in 84.1% of the parents and regional estimated incidence was calculated as 1 in 6103 live births.
Q188R mutation was found in 92.8% of our cases. The regional estimated incidence was found as 1 in 6103 live births. Our study strongly supports that galactosemia should be included in the national newborn screening program.
经典型半乳糖血症（CG）是一种罕见的遗传性疾病，如果在生命早期未被诊断和治疗，可导致严重的发病率和死亡率。临床发现通常在新生儿期后发生，此时新生儿摄入含半乳糖的牛奶。大多数患者表现为黄疸、肝肿大、低血糖和白内障。
我们旨在记录 CG 新生儿的临床、分子特征、区域性估计发病率和诊断时间。
回顾性分析 2011 年 1 月至 2018 年 1 月期间诊断和随访的 63 例 CG 新生儿的数据。
在研究期间，诊断出 63 例（33 名男孩和 30 名女孩）CG 新生儿。中位胎龄为 39 周（33-42）。主要表现症状为黄疸 90.5%和白内障 41.2%。首次出现症状的平均年龄为 12±7.4 天，而诊断的平均年龄为 18.9±10.6 天。近一半的患者（55.5%）在出生后第 15 天以后才被诊断。对 56 例患者进行了基因分析，发现纯合子 Q188R 突变占 92.8%。33.3%的病例有败血症的迹象。有 6 例患者因败血症死亡。父母中有 84.1%有血缘关系，区域性估计发病率为每 6103 例活产儿 1 例。
我们的病例中发现 92.8%存在 Q188R 突变。区域性估计发病率为每 6103 例活产儿 1 例。我们的研究强烈支持将半乳糖血症纳入国家新生儿筛查计划。
