家族性部分脂肪营养不良2型(FPLD2)由LMNA基因的常染色体显性突变引起,导致皮下脂肪沉积不足和异位脂肪堆积过多,导致代谢并发症和预期寿命缩短。这种情况的稀有性意味着整个童年时期FPLD2的自然史还没有得到很好的理解。在英国国家严重胰岛素抵抗服务(NSIRS)的照顾下,我们报告了12名(5M)患有FPLD2基因诊断的儿童队列的结果,该服务提供了包括饮食在内的多学科输入,除了筛查合并症。
为了描述临床的自然史,FPLD2患儿的生化和放射学结果。
对在儿科NSIRS中发现的基因诊断为FPLD2的儿童进行回顾性病例回顾。
包括12名(5M)在18岁之前通过基因检测诊断为FPLD2的个体,并参加了NSIRS诊所。
代谢变量之间的关系(HbA1c,甘油三酯,空腹胰岛素,空腹血糖和丙氨酸转氨酶[ALT])随时间变化,从第一次访问到最近,使用多变量模型进行了探索,根据年龄和性别进行调整。记录了合并症的发展年龄。
3名患者(均为女性)在12至19岁之间发展为糖尿病,并接受二甲双胍治疗。一名女性患有肥厚型心肌病,四名(1M)患者在中位[范围]年龄为14(12-15)岁时出现轻度肝性脂肪变性。三名(1M)患者报告了与脂肪营养不良有关的心理健康问题。生化结果与年龄之间没有关系。糖尿病患者的ALT浓度高于没有糖尿病的患者,根据年龄调整,性别和体重指数标准差得分。
尽管饮食输入,一些病人,更常见的是女性,10岁后出现合并症。生化结果和年龄之间缺乏关系可能反映了一个小的队列规模。我们建议,虽然临床回顾和饮食支持对FPLD2患儿有益,但在10岁之前对合并症进行正式筛查可能没有益处.来自包括营养师在内的多学科团队的临床投入,诊断后应提供心理学家和临床医生。
Familial partial lipodystrophy type 2 (FPLD2) results from autosomal dominant mutations in the LMNA gene, causing lack of subcutaneous fat deposition and excess ectopic fat accumulation, leading to metabolic complications and reduced life expectancy. The rarity of the condition means that the natural history of FPLD2 throughout childhood is not well understood. We report outcomes in a cohort of 12 (5M) children with a genetic diagnosis of FPLD2, under the care of the UK National Severe Insulin Resistance Service (NSIRS) which offers multidisciplinary input including dietetic, in addition to screening for comorbidities.
To describe the natural history of clinical, biochemical and radiological outcomes of children with FPLD2.
A retrospective
case note review of children with a genetic diagnosis of FPLD2 who had been seen in the paediatric NSIRS was performed.
Twelve (5M) individuals diagnosed with FPLD2 via genetic testing before age 18 and who attended the NSIRS clinic were included.
Relationships between metabolic variables (HbA1c, triglycerides, fasting insulin, fasting glucose and alanine transaminase [ALT]) across time, from first visit to most recent, were explored using a multivariate model, adjusted for age and gender. The age of development of comorbidities was recorded.
Three patients (all female) developed diabetes between 12 and 19 years and were treated with Metformin. One female has hypertrophic cardiomyopathy and four (1M) patients developed mild hepatic steatosis at a median [range] age of 14(12-15) years. Three (1M) patients reported mental health problems related to lipodystrophy. There was no relationship between biochemical results and age. Patients with diabetes had higher concentrations of ALT than patients who did not have diabetes, adjusted for age, gender and body mass index standard deviation scores.
Despite dietetic input, some patients, more commonly females, developed comorbidities after the age of 10. The absence of relationships between biochemical results and age likely reflects a small cohort size. We propose that, while clinical review and dietetic support are beneficial for children with FPLD2, formal screening for comorbidities before age 10 may not be of benefit. Clinical input from an multidisciplinary team including dietician, psychologist and clinician should be offered after diagnosis.