LMNA公司
脂肪营养不良
血脂异常
医学
高甘油三酯血症
急性胰腺炎
胰腺炎
糖尿病
内科学
背景(考古学)
脂肪组织
优势比
队列
儿科
胃肠病学
内分泌学
免疫学
生物
甘油三酯
精神科
拉明
核心
人类免疫缺陷病毒(HIV)
胆固醇
抗逆转录病毒疗法
病毒载量
古生物学
作者
Özge Besci,Maria Cristina Foss‐Freitas,Natália Rossin Guidorizzi,Merve Çelik Güler,Donatella Gilio,Jessica N. Maung,Rebecca L. Schill,Keegan S. Hoose,Bonje Obua,A Gomes,Ilgin Yıldırım Şimşir,Korcan Demir,Barış Akıncı,Ormond A. MacDougald,Elif A Oral
标识
DOI:10.1210/clinem/dgad606
摘要
Abstract Context Lipodystrophy syndromes are a heterogeneous group of rare genetic or acquired disorders characterized by generalized or partial loss of adipose tissue. LMNA-related lipodystrophy syndromes are classified based on the severity and distribution of adipose tissue loss. Objective We aimed to annotate all clinical and metabolic features of patients with lipodystrophy syndromes carrying pathogenic LMNA variants and assess potential genotype-phenotype relationships. Methods We retrospectively reviewed and analyzed all our cases (n = 115) and all published cases (n = 379) curated from 94 studies in the literature. Results The study included 494 patients. The most common variants in our study, R482Q and R482W, were associated with similar metabolic characteristics and complications though those with the R482W variant were younger (aged 33 [24] years vs 44 [25] years; P < .001), had an earlier diabetes diagnosis (aged 27 [18] vs 40 [17] years; P < .001) and had lower body mass index levels (24 [5] vs 25 [4]; P = .037). Dyslipidemia was the earliest biochemical evidence described in 83% of all patients at a median age of 26 (10) years, while diabetes was reported in 61% of cases. Among 39 patients with an episode of acute pancreatitis, the median age at acute pancreatitis diagnosis was 20 (17) years. Patients who were reported to have diabetes had 3.2 times, while those with hypertriglyceridemia had 12.0 times, the odds of having pancreatitis compared to those who did not. Conclusion This study reports the largest number of patients with LMNA-related lipodystrophy syndromes to date. Our report helps to quantify the prevalence of the known and rare complications associated with different phenotypes and serves as a comprehensive catalog of all known cases.
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