School of Medicine, Nankai University, Tianjin, China.
Department of Nephrology, First Medical Center of Chinese PLA General Hospital, Chinese PLA Institute of Nephrology, State Key Laboratory of Kidney Diseases, National Clinical Research Center for Kidney Diseases, Beijing, China.
BMC Nephrol. 2023 Apr 5;24(1):90. doi: 10.1186/s12882-023-03138-w.
Fabry disease is a rare hereditary disease involving multiple organs, and there are few reports on how the initial manifestations and renal involvement of these patients with classical and late-onset phenotype evolve with sexes and ages. To improve clinicians' understanding of Fabry disease and avoid misdiagnoses by discussing the initial manifestations, first medical specialties visited and renal involvement development in patients.
This study collected relevant data from 311 Chinese Fabry disease patients (200 males, 111 females) and descriptive statistical analysis was used to analyze the evolution of the initial manifestations and renal involvement of patients with classical and late-onset phenotype at different sexes and ages.
Regarding the age at manifestation onset, age at the first medical specialty visited and age at the diagnosis of Fabry disease, males were earlier than females, and males with classical phenotype were earlier than males with late-onset and females with classical phenotype. In both male and female patients, the initial manifestations of classical patients were mainly acroparesthesia, and the first medical specialty visited were mainly pediatrics and neurology. The initial manifestations of late-onset patients were mainly renal and cardiovascular involvement, and the first medical specialty visited were mainly nephrology and cardiology. In classical patients, both male and female, the initial manifestations of the preschool and the juvenile groups were mainly acroparesthesia, and the frequency of renal and cardiovascular involvement in the young group was higher than that in the preschool and juvenile groups. There was no obvious renal involvement in the preschool group, renal involvement was most common in the young group and the middle-aged and elderly group. Proteinuria can appear in classical male patients as early as approximately 20 years, and renal insufficiency can occur at approximately 25 years. With age, over 50% of classical male patients can develop varying degrees of proteinuria at the age of 25 and renal insufficiency at the age of 40. 15.94% of the patients progressed to dialysis or kidney transplantation, mainly classical males.
The initial manifestation of Fabry disease is affected by sex, age and classical/late-onset phenotype. The initial manifestations were mainly acroparesthesia and the frequency and degree of renal involvement increased gradually with aging in classical male patients.
法布瑞病是一种累及多器官的罕见遗传性疾病，目前有关经典型和晚发型表型患者的首发表现及肾脏受累随性别和年龄变化的报道较少。为提高临床医生对法布瑞病的认识，避免误诊，通过讨论患者的首发表现、首诊科室及肾脏受累进展情况。
本研究收集了 311 例中国法布瑞病患者（男性 200 例，女性 111 例）的相关数据，采用描述性统计分析方法，分析不同性别和年龄的经典型和晚发型表型患者首发表现及肾脏受累的演变。
在发病年龄、首诊年龄、确诊年龄方面，男性早于女性，经典型男性早于晚发型男性和经典型女性；男女患者中，经典型患者首发表现主要为肢端感觉异常，首诊科室主要为儿科和神经内科；晚发型患者首发表现主要为肾脏和心血管受累，首诊科室主要为肾内科和心内科；经典型患者中，学龄前和青少年组男女患者首发表现均主要为肢端感觉异常，青年组肾脏和心血管受累发生率高于学龄前和青少年组；学龄前组无明显肾脏受累，青年组和中老年组肾脏受累最常见；经典型男性患者蛋白尿最早可出现在 20 岁左右，肾功能不全可出现在 25 岁左右，随着年龄的增长，25 岁时超过 50%的经典型男性患者可出现不同程度的蛋白尿，40 岁时出现肾功能不全；有 15.94%的患者进展为透析或肾移植，主要为经典型男性。
法布瑞病的首发表现受性别、年龄和经典/晚发型表型的影响，经典型男性患者的首发表现主要为肢端感觉异常，且随着年龄的增长，肾脏受累的频率和程度逐渐增加。
