Catrinoiu D, Mihai C M, Tuta L, Stoicescu R, Simpetru A
"Ovidius" University, Faculty of Medicine.
J Med Life. 2009 Jan-Mar;2(1):98-103.
Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction. Since the first description of the syndrome in 1959, there have never been reported cases of Alstrom syndrome with the occurrence of the Bardet-Biedl syndrome in their relatives, this case suggesting a close genetic link between these two ciliopathies. The presence of empty sella seems to be a rare morphologic finding in Alstrom syndrome although it has been documented in few Bardet-Biedl cases.
We report a case of a 20 -year-old caucasian male with hearing and visual loss, short stature, insulin resistant diabetes, dilated cardiomyopathy, hepatic and renal dysfunction, hypertension, and alopecia. By studying his family medical records we identified two relatives with suggestive clinical findings for Bardet Biedl syndrome.
Analyzing the clinical traits of these patients we found that retinopathy, nephropathy and central obesity were present in all patients, suggesting a main anomaly in ciliary function controlling photoreception, renal and metabolic processes. The occurrence of similar clinical cases within a family further demonstrates the existence of a common pathologic cilliary mechanism, a genetic basis of phenotypic variability in seemingly monogenic disease and a functional link between rare disorders and common traits with overlapping clinical manifestations. Genetic studies in such patients may provide new data regarding the consequences of defective cilia and a possible identification of new gene mutations.
阿尔斯特伦综合征是一种极其罕见的常染色体隐性遗传病，其特征是一组体征和症状，包括婴儿期发病的扩张型心肌病、失明、听力障碍/丧失、肥胖、糖尿病、肝肾功能障碍。自1959年首次描述该综合征以来，从未有亲属发生巴德-比德尔综合征的阿尔斯特伦综合征病例报告，该病例表明这两种纤毛病之间存在密切的遗传联系。空蝶鞍的存在似乎是阿尔斯特伦综合征中一种罕见的形态学表现，尽管在少数巴德-比德尔病例中已有记录。
我们报告一例20岁的白种男性病例，该患者有听力和视力丧失、身材矮小、胰岛素抵抗性糖尿病、扩张型心肌病、肝肾功能障碍、高血压和脱发。通过研究他的家族病历，我们确定了两名有巴德-比德尔综合征提示性临床发现的亲属。
分析这些患者的临床特征，我们发现所有患者均存在视网膜病变、肾病和中心性肥胖，提示在控制光感受、肾脏和代谢过程的纤毛功能方面存在主要异常。一个家族中出现类似临床病例进一步证明了存在共同的病理性纤毛机制、看似单基因疾病表型变异的遗传基础以及罕见疾病与具有重叠临床表现的常见特征之间的功能联系。对此类患者进行基因研究可能会提供有关纤毛缺陷后果的新数据，并可能鉴定出新的基因突变。
