Wiedemann-Rautenstrauch综合征(新生儿孕激素综合征)是一种来自早衰综合征的超孤儿疾病,具有与POLR3A突变相关的常染色体隐性遗传类型,POLR3B,和编码RNA聚合酶III的POLR3GL基因。该疾病的发病率目前未知。我们介绍了俄罗斯联邦7岁6个月大的Wiedemann-Rautenstrauch综合征(POLR3A基因的复合杂合突变)患者的第一个临床描述,adentia,生长迟缓(身高SDS-3,41,身高速度SDS-2,47),体重不足(BMISDS-6,20),和全身性脂肪营养不良。文章介绍了病人1.5年的观察,新生儿孕激素综合征患者动态随访的世界经验,鉴别诊断,以及对该综合征患者的管理建议。鉴于迄今为止缺乏特定的治疗方法,患者由一个多学科的医生团队观察。
Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome) is an ultra-orphan disease from the group of premature aging syndromes with an autosomal recessive type of inheritance associated with mutations in the POLR3A, POLR3B, and POLR3GL genes encoding RNA polymerase III. The incidence of the disease is currently unknown. We present the first clinical description in Russian Federation of a patient 7 years 6 months old with Wiedemann-Rautenstrauch syndrome (compound heterozygous mutations in POLR3A gene) with progeroid features, adentia, growth retardation (height SDS -3,41, height velocity SDS -2,47), underweight (BMI SDS -6,20), and generalized lipodystrophy. The article presents the observation of the patient for 1.5 years, the world experience of dynamic follow-up of patients with neonatal progeroid syndrome, differential diagnosis, as well as recommendations for the management of patients with this syndrome. Given the lack of specific treatment to date, patients are observed by a multidisciplinary team of physicians.