Cefle K, Yildiz A, Palanduz S, Ozturk S, Ozbey N, Kylyçaslan I, Colakoglu S, Balci C
Department of Internal Medicine, Istanbul University, Turkey.
Int J Clin Pract. 2002 May;56(4):316-8.
Sotos syndrome is characterised by accelerated growth, acromegalic appearance, mental retardation and social maladjustment. Most cases are sporadic, but familial cases have also been reported. We report a case of Sotos syndrome presenting with chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD). Ultrasonographic examination of the patient, his father and other family members revealed polycystic kidneys. Renal failure was present only in the Sotos case, who also had considerably larger cysts than other family members. We suggest that the underlying mechanism responsible from the somatic overgrowth in Sotos syndrome may also be linked with the development of larger cysts and earlier onset of renal failure in ADPKD. Although Sotos syndrome has been associated with urological abnormalities, chronic renal failure is very rare. To our knowledge, Sotos syndrome associated with ADPKD has not been reported before.
索托斯综合征的特征为生长加速、肢端肥大样外观、智力迟钝和社会适应不良。大多数病例为散发性,但也有家族性病例的报道。我们报告1例因常染色体显性遗传性多囊肾病(ADPKD)导致慢性肾衰竭的索托斯综合征患者。对该患者及其父亲和其他家庭成员进行超声检查发现有多囊肾。肾衰竭仅出现在索托斯综合征患者中,其囊肿也比其他家庭成员的囊肿大得多。我们认为,索托斯综合征中躯体过度生长的潜在机制可能也与ADPKD中更大囊肿的形成及肾衰竭的早发有关。虽然索托斯综合征与泌尿系统异常有关,但慢性肾衰竭非常罕见。据我们所知,此前尚未报道过与ADPKD相关的索托斯综合征。