Costi G, Ten S, Maclaren N K
Weill Medical College, Cornell University, New York, NY 10021, USA.
J Endocrinol Invest. 2001 Oct;24(9):692-707. doi: 10.1007/BF03343914.
Diabetes mellitus comprises a heterogeneous group of diseases that have in common the development of macro- and microvascular complications. It is now possible to identify subjects at high risk of Type 1 or Type 2 diabetes, especially in the patient's family members. Preventive interventions are quickly becoming available, and can help delay the onset of the disease and thereby reduce complications in these subjects. Furthermore the correct etiological diagnosis of diabetes is fundamental in providing the best treatment for the patient. Maturity-onset diabetes of the young (MODY) syndrome should be suspected in cases of a subtle onset of diabetes and autosomal dominant inheritance. Mitochondrial DNA mutations should be considered when a diabetic patient also suffers from deafness or if there is a family history of this combination in the mother side of the family. Atypical diabetes has to be identified by the physician to avoid mistakes when the patient enters the non-insulin-dependent phase. In the case of Wolfram's syndrome a gene analysis for each family member should be performed to identify heterozygote subjects. Recently, many discoveries in genetics help us better understand the pathogenesis of the diseases and diagnose the monogenic form of diabetes more easily. If all family members are followed in the same center, clues from the family history are readily available for differential diagnosis and preventive interventions can be established more effectively.
糖尿病是一组异质性疾病,其共同特征是发生大血管和微血管并发症。现在能够识别出1型或2型糖尿病的高危人群,尤其是患者的家庭成员。预防性干预措施很快就会出现,并且可以帮助延缓疾病的发作,从而减少这些人群的并发症。此外,正确的糖尿病病因诊断对于为患者提供最佳治疗至关重要。对于糖尿病起病隐匿且为常染色体显性遗传的病例,应怀疑为青年发病的成年型糖尿病(MODY)综合征。当糖尿病患者同时患有耳聋,或者家族中母亲一方有这种组合的家族病史时,应考虑线粒体DNA突变。医生必须识别出非典型糖尿病,以免患者进入非胰岛素依赖阶段时出现误诊。对于沃夫勒姆综合征,应对每个家庭成员进行基因分析,以识别杂合子个体。最近,遗传学上的许多发现有助于我们更好地理解疾病的发病机制,并更轻松地诊断单基因形式的糖尿病。如果所有家庭成员都在同一中心接受随访,那么家族史中的线索将很容易用于鉴别诊断,并且可以更有效地制定预防性干预措施。