[一例因LMNA基因突变导致的复杂糖尿病病例]
[A complex case of diabetes due to LMNA mutation].
作者信息
Ambonville C, Bouldouyre M-A, Laforêt P, Richard P, Benveniste O, Vigouroux C
机构信息
Service d'endocrinologie, diabétologie et maladies métaboliques, centre hospitalier intercommunal Robert-Ballanger, 93603 Aulnay-sous-Bois, France.
Service de médecine interne et maladies infectieuses, centre hospitalier intercommunal Robert-Ballanger, 93603 Aulnay-sous-Bois, France.
出版信息
Rev Med Interne. 2017 Oct;38(10):695-699. doi: 10.1016/j.revmed.2017.04.006. Epub 2017 May 23.
INTRODUCTION
Laminopathies (diseases related to A/C mutations of lamines) are rare genetic diseases with an extensive phenotypic spectrum, including lipodystrophic syndromes-characterized by a selective loss of adipose tissue-of which the partial Dunnigan family type is the most frequent.
CASE REPORT
We report on a 55-year-old woman with diabetes and long-term disabling myalgia. Her cushingoid morphotype, associated with cutaneous lipo-atrophy and muscle hypertrophy in addition to a genetic heritage, led us to the diagnosis of complex partial familial lipodystrophy heterozygous LMNA_c.82C>T, p.Arg28Trp mutation.
CONCLUSION
Familial partial lipodystrophic syndromes may have varied phenotypes, mainly cardio-metabolic, which could mimic a particularly severe type 2 diabetes. The diagnostic work-up of this disease has to include a careful investigation of gait troubles and paroxysmal conduction that could lead to sudden death, as well as a genetic examination. In some cases, recombinant leptin can be proposed.
引言
层黏蛋白病（与层黏蛋白A/C突变相关的疾病）是一类罕见的遗传性疾病，具有广泛的表型谱，包括脂肪营养不良综合征，其特征为脂肪组织选择性缺失，其中部分邓尼根家族型最为常见。
病例报告
我们报告了一名55岁患有糖尿病和长期致残性肌痛的女性。她具有库欣样体型，伴有皮肤脂肪萎缩和肌肉肥大，加之遗传因素，促使我们诊断其为复杂型部分家族性脂肪营养不良，存在杂合性LMNA_c.82C>T，p.Arg28Trp突变。
结论
家族性部分脂肪营养不良综合征可能具有多种表型，主要为心脏代谢方面的表型，可能酷似特别严重的2型糖尿病。该疾病的诊断检查必须包括对可能导致猝死的步态障碍和阵发性传导进行仔细检查，以及进行基因检测。在某些情况下，可以考虑使用重组瘦素。
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