Instituto de Medicina Oncológica y Molecular de Asturias, Asturias, Spain.
Am J Med Genet A. 2011 Nov;155A(11):2617-25. doi: 10.1002/ajmg.a.34249. Epub 2011 Sep 19.
Progeria syndromes are rare disorders that involve premature aging. Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Néstor-Guillermo progeria syndrome (NGPS). We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., Hutchinson-Gilford progeria syndrome or mandibuloacral dysplasia), such as aged appearance, growth retardation, decreased subcutaneous fat, thin limbs, and stiff joints. However, these NGPS patients have a distinctive phenotype. In their early adulthood (32 and 24 years of age), they have no signs of cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia. In contrast, they suffer profound skeletal abnormalities that affect their quality of life. The observed differences are of utmost importance to patients and their families and palliation of osseous manifestations is a priority, given their relatively long lifespan. We define NGPS as a chronic progeria because of its slow clinical course and relatively long survival, despite its early onset. Understanding the differences between progeria syndromes might contribute to the development of treatment strategies for common skeletal conditions, as well as aging itself.
早衰综合征是一种罕见的疾病，涉及过早衰老。最近有报道称 BANF1 的突变会导致一种新的遗传性早衰综合征，我们现在将其命名为内斯特-吉列尔莫早衰综合征（NGPS）。我们在此描述了前两名 NGPS 患者的临床特征，他们表现出经典早衰症（即哈钦森-吉尔福德早衰症或下颌面骨发育不良）的特征，如衰老外貌、生长迟缓、皮下脂肪减少、四肢消瘦和关节僵硬。然而，这些 NGPS 患者具有独特的表型。在他们的成年早期（32 岁和 24 岁），他们没有心血管损伤、糖尿病或高甘油三酯血症的迹象。相反，他们患有严重的骨骼异常，影响了他们的生活质量。观察到的差异对患者及其家属至关重要，鉴于他们相对较长的寿命，缓解骨骼表现是当务之急。由于其缓慢的临床过程和相对较长的生存时间，我们将 NGPS 定义为一种慢性早衰症。了解早衰综合征之间的差异可能有助于制定治疗常见骨骼疾病以及衰老本身的策略。
