PDF(Pubmed)
Abstract：
UNASSIGNED: Acid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease type A, A/B, and B, is a rare lysosomal storage pathology with multisystemic clinical manifestations. The aims of this study were to estimate the survival probability in patients in the United States with chronic ASMD (ASMD types B and A/B), and to describe the disease characteristics of these patients.
UNASSIGNED: This observational retrospective study included medical chart records of patients with chronic ASMD with retrievable data abstracted by 69 participating physicians from 25 medical centers in the United States. Included patients had a date of ASMD diagnosis or first presentation to a physician for ASMD symptoms (whichever occurred first) between January 01, 1990, and February 28, 2021. Medical chart records were excluded if patients were diagnosed with ASMD type A. Eligible medical chart records were abstracted to collect demographic, medical and developmental history, and mortality data. Survival outcomes were analyzed using Kaplan-Meier survival analyses from birth until death.
UNASSIGNED: The overall study population (N = 110) included 69 patients with ASMD type B, nine with type A/B, and 32 with ASMD \"non-type A\" (ASMD subtype was unknown, but patients were confirmed as not having ASMD type A). The majority of patients were male with a median age at diagnosis of 3.8 years. Thirty-eight patients died during the study observation period, at a median age of 6.8 years. The median (95% confidence interval) survival age from birth was 21.3 (10.2; 60.4) years. At diagnosis or first presentation, 42.7% patients had ≥1 ASMD-related complication; splenic (30.0%) and hepatobiliary (20.9%) being the most common, and 40.9% required ≥1 medical visit due to complications.
UNASSIGNED: Patients with chronic ASMD in the United States have poor survival and significant burden of illness.
UNASSIGNED: This observational retrospective study included medical chart records of patients with chronic ASMD with retrievable data abstracted by 69 participating physicians from 25 medical centers in the United States. Included patients had a date of ASMD diagnosis or first presentation to a physician for ASMD symptoms (whichever occurred first) between January 01, 1990, and February 28, 2021. Medical chart records were excluded if patients were diagnosed with ASMD type A. Eligible medical chart records were abstracted to collect demographic, medical and developmental history, and mortality data. Survival outcomes were analyzed using Kaplan-Meier survival analyses from birth until death.
UNASSIGNED: The overall study population (N = 110) included 69 patients with ASMD type B, nine with type A/B, and 32 with ASMD \"non-type A\" (ASMD subtype was unknown, but patients were confirmed as not having ASMD type A). The majority of patients were male with a median age at diagnosis of 3.8 years. Thirty-eight patients died during the study observation period, at a median age of 6.8 years. The median (95% confidence interval) survival age from birth was 21.3 (10.2; 60.4) years. At diagnosis or first presentation, 42.7% patients had ≥1 ASMD-related complication; splenic (30.0%) and hepatobiliary (20.9%) being the most common, and 40.9% required ≥1 medical visit due to complications.
UNASSIGNED: Patients with chronic ASMD in the United States have poor survival and significant burden of illness.
摘要：
■酸性鞘磷脂酶缺乏症（ASMD），历史上被称为尼曼-皮克病A型，A/B,B,是一种罕见的溶酶体贮积病理，具有多系统的临床表现。这项研究的目的是估计美国慢性ASMD（ASMDB型和A/B型）患者的生存概率，并描述这些患者的疾病特征。
■这项观察性回顾性研究包括慢性ASMD患者的病历记录以及来自美国25个医疗中心的69名参与医生提取的可检索数据。纳入的患者在1990年1月1日至2021年2月28日之间有ASMD诊断或首次出现ASMD症状的日期（以先发生者为准）。如果患者被诊断为A型ASMD，则排除病历记录。提取合格的病历记录以收集人口统计信息，医学和发展史，和死亡率数据。使用Kaplan-Meier生存分析分析从出生到死亡的生存结果。
■总体研究人群（N=110）包括69例B型ASMD患者，9个A/B型，和32具有ASMD\“非A型\”(ASMD亚型未知，但患者被确认为没有ASMDA型）。大多数患者为男性，诊断时的中位年龄为3.8岁。38名患者在研究观察期间死亡，平均年龄为6.8岁。出生后的中位生存年龄（95％置信区间）为21.3（10.2;60.4）岁。在诊断或首次出现时，42.7％的患者有≥1例ASMD相关并发症；脾（30.0％）和肝胆（20.9％）最常见，40.9%因并发症需要≥1次就诊。
■在美国患有慢性ASMD的患者具有较差的生存率和显著的疾病负担。
■这项观察性回顾性研究包括慢性ASMD患者的病历记录以及来自美国25个医疗中心的69名参与医生提取的可检索数据。纳入的患者在1990年1月1日至2021年2月28日之间有ASMD诊断或首次出现ASMD症状的日期（以先发生者为准）。如果患者被诊断为A型ASMD，则排除病历记录。提取合格的病历记录以收集人口统计信息，医学和发展史，和死亡率数据。使用Kaplan-Meier生存分析分析从出生到死亡的生存结果。
■总体研究人群（N=110）包括69例B型ASMD患者，9个A/B型，和32具有ASMD\“非A型\”(ASMD亚型未知，但患者被确认为没有ASMDA型）。大多数患者为男性，诊断时的中位年龄为3.8岁。38名患者在研究观察期间死亡，平均年龄为6.8岁。出生后的中位生存年龄（95％置信区间）为21.3（10.2;60.4）岁。在诊断或首次出现时，42.7％的患者有≥1例ASMD相关并发症；脾（30.0％）和肝胆（20.9％）最常见，40.9%因并发症需要≥1次就诊。
■在美国患有慢性ASMD的患者具有较差的生存率和显著的疾病负担。
