Fanconi S, Fischer J A, Wieland P, Atares M, Fanconi A, Giedion A, Prader A
J Pediatr. 1986 Sep;109(3):469-75. doi: 10.1016/s0022-3476(86)80120-2.
We report three unrelated patients with Kenny syndrome. Clinical symptoms included severe dwarfism, with internal cortical thickening and medullary stenosis of the tubular bones, normal bone age, macrocephaly, absent diploic space, delayed closure of the anterior fontanel, and normal intelligence; two of the patients had hyperopia and papillary edema. The patients also had episodic hypocalcemic tetany and low serum levels of magnesium. In two patients the diagnosis of idiopathic hypoparathyroidism was established on the basis of undetectable serum parathyroid hormone (PTH) levels (N- and C-terminal RIAs); one of these had normal urinary cyclic adenosine monophosphate (cAMP) response to exogenous PTH. Circulating calcitonin was undetectable in either patient. In a third patient, who had abnormal body proportions, serum levels of PTH were increased in an RIA detecting predominantly intact PTH (N-RIA) and undetectable in another RIA recognizing carboxy-terminal fragments (C-RIA). Administration of PTH promptly increased urinary cAMP excretion. In this patient, serum levels of calcitonin were increased, whereas values for 25-OHD and 1,25(OH)2D were normal.
我们报告了三名患肯尼综合征的非亲缘关系患者。临床症状包括严重侏儒症，管状骨皮质内增厚和髓腔狭窄，骨龄正常，巨头畸形，板障间隙缺如，前囟闭合延迟，智力正常；其中两名患者有远视和视乳头水肿。患者还出现发作性低钙性手足搐搦和血清镁水平降低。两名患者根据血清甲状旁腺激素（PTH）水平（N端和C端放射免疫分析）检测不到确诊为特发性甲状旁腺功能减退症；其中一名患者对外源性PTH的尿环磷酸腺苷（cAMP）反应正常。两名患者的循环降钙素均检测不到。第三名患者身体比例异常，在主要检测完整PTH的放射免疫分析（N端放射免疫分析）中血清PTH水平升高，而在另一种识别羧基末端片段的放射免疫分析（C端放射免疫分析）中检测不到。给予PTH后尿cAMP排泄迅速增加。该患者血清降钙素水平升高，而25-羟维生素D和1,25-二羟维生素D值正常。
