Faggian Guido, Cesaro Antonio, Faggian Roberto, Del Piano Carlo, Vitagliano Arcangelo, Del Piano Domenico, Tibullo Loredana, Faggian Angela
Sezione Diagnostica per Immagini e Radioterapia, Università Federico II Napoli, Italy.
UOSD Nefrologia ed Emodialisi, P.O. Moscati, Aversa (CE), Italy.
G Ital Nefrol. 2021 Oct 26;38(5):2021-vol5.
We describe the case of a 26-year-old male patient with a previous diagnosis of Alström Syndrome who presented drowsiness, dyspnea, tremors, and a dull abdominal pain, without signs of peritoneal irritation. The patient also presented sensorineural hearing loss, decreased vision, due to chorioretinal dystrophy, difficulty walking with back-lumbar double curve scoliosis, impaired glycemic homeostasis, and a significant deterioration of renal function. Alström syndrome is a multisystem disease characterized by rod-cone dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy, and progressive renal and hepatic dysfunction. Around 450 cases have been identified worldwide. Clinical signs, age of onset and severity can vary significantly between different families and within the same family. Careful nephrological follow-up is necessary in patients with syndromic ciliopathies, since long-term kidney problems can have an impact on other diseases, eg. cardiovascular disease.
我们描述了一名26岁男性患者的病例,该患者先前被诊断为阿尔斯特伦综合征,出现嗜睡、呼吸困难、震颤和钝痛性腹痛,无腹膜刺激征。患者还存在感音神经性听力损失、因脉络膜视网膜营养不良导致视力下降、伴有腰背部双弯脊柱侧弯行走困难、血糖稳态受损以及肾功能显著恶化。阿尔斯特伦综合征是一种多系统疾病,其特征为视杆视锥营养不良、听力损失、肥胖、胰岛素抵抗和高胰岛素血症、2型糖尿病、扩张型心肌病以及进行性肾和肝功能障碍。全球已确诊约450例。不同家族之间以及同一家族内部,临床体征、发病年龄和严重程度可能有显著差异。对于患有综合征性纤毛病的患者,需要进行仔细的肾脏科随访,因为长期的肾脏问题可能会对其他疾病产生影响,例如心血管疾病。