目的:调查挪威人群POLG病的患病率和自然史。
方法:国家,以人口为基础,使用人口学的回顾性研究,临床,和基因证实的POLG病患者的遗传数据。这些患者在2002年至2022年之间被诊断,并被纳入挪威POLG患者登记处。根据发病年龄对患者进行分层(早期<12岁,青少年到成人12-40岁,晚期≥40年)和常住地区。
结果:纳入91例患者。POLG病的点患病率为1:149,253。出生患病率为1:48,780。临床发病的中位年龄为16岁(范围:2个月至70岁)。35%的人(91人中有32人)发病较早,青少年成年人占55%(91人中有50人),晚期占10%(91人中有9人)。观察到疾病发作的明显季节性模式,57%(91人中有52人)在5月至8月期间出席。45例(49%)急性加重需要重症监护,这影响了早期发病组的72%。死亡率为54%(91人中有49人),从发病到死亡的中位时间为3年(范围:1个月至36年)。
结论:我们在第一个全国范围内研究中提供了POLG疾病的点患病率和出生患病率,其中流行病学和临床数据被整合。临床发作的季节性变化可能为疾病机制和修饰因素提供有价值的见解。这项研究的结果对于量化疾病负担至关重要,并有助于循证医疗规划。
OBJECTIVE: To investigate the prevalence and natural history of POLG disease in the Norwegian population.
METHODS: A national, population-based, retrospective study using demographic, clinical, and genetic data of patients with genetically confirmed POLG disease. The patients were diagnosed between 2002 and 2022, and were included into the Norwegian POLG Patient Registry. Patients were stratified according to age at disease onset (early <12 years, juvenile to adult 12-40 years, late ≥40 years) and resident region.
RESULTS: Ninety-one patients were included. The point prevalence of POLG disease was 1:149,253. Birth prevalence was 1:48,780. Median age at clinical onset was 16 years (range: 2 months to 70 years). Onset occurred early in 35% (32 out of 91), juvenile-adult in 55% (50 out of 91) and late in 10% (9 out of 91). A distinct seasonal pattern in disease onset was observed, with 57% (52 out of 91) presenting between May and August. Forty-five patients (49%) had acute exacerbations that required intensive care, and this affected 72% of those in the early-onset group. The mortality rate was 54% (49 out of 91), with a median time from disease onset to death of 3 years (range: 1 month to 36 years).
CONCLUSIONS: We provide the point prevalence and birth prevalence of POLG disease in the first nationwide study in which epidemiological and clinical data were integrated. Seasonal variations in clinical onset may offer valuable insights into disease mechanisms and modifying factors. The findings from this study are crucial for quantifying the disease burden, and contribute to evidence-based healthcare planning.