Winkler L, Offner G, Krull F, Brodehl J
Department of Paediatric Nephrology and Metabolic Disorders, Children's Hospital, Medical School Hannover, Federal Republic of Germany.
Eur J Pediatr. 1993 Mar;152(3):244-9. doi: 10.1007/BF01956154.
In a retrospective investigation growth and pubertal development were evaluated in 30 patients with nephropathic cystinosis. Growth was investigated during the stage of chronic renal insufficiency as well as after successful kidney transplantation and growth rates were related to kidney function. Pubertal development was evaluated in 17 patients between 12 and 25 years of age. Prepubertal growth rates were stable in a range between -2 and -3 height velocity SDS as long as glomerular filtration rate was above 20ml/min per 1.73m2. A decrease in glomerular filtration rate below this threshold was followed by further decrease in height velocity. After kidney transplantation a significant catch-up growth was seen if immunosuppression was performed with cyclosporine A and low dose prednisolone. This did not occur if conventional therapy with azathioprine and high-dose prednisolone was used. Onset of puberty was delayed in all patients. Gonadotropin and oestradiol levels in female patients showed normal fluctuations according to ovulatory cycles. In male patients after puberty there was an increase in gonadotropin levels above the normal range for adult men while testosterone levels remained in the low normal range. These results indicate that adult men with nephropathic cystinosis may develop hypergonadotropic hypogonadism.
在一项回顾性研究中，对30例肾病性胱氨酸病患者的生长和青春期发育进行了评估。在慢性肾功能不全阶段以及成功进行肾移植后对生长情况进行了研究，并将生长速率与肾功能相关联。对17例年龄在12至25岁之间的患者进行了青春期发育评估。只要肾小球滤过率高于20ml/（min·1.73m²），青春期前的生长速率就稳定在身高速度标准差评分-2至-3的范围内。肾小球滤过率降至该阈值以下后，身高速度会进一步下降。如果使用环孢素A和低剂量泼尼松龙进行免疫抑制，肾移植后会出现显著的追赶生长。如果使用硫唑嘌呤和高剂量泼尼松龙进行常规治疗，则不会出现这种情况。所有患者的青春期开始均延迟。女性患者的促性腺激素和雌二醇水平根据排卵周期呈现正常波动。男性患者青春期后促性腺激素水平高于成年男性的正常范围，而睾酮水平则维持在低正常范围内。这些结果表明，患有肾病性胱氨酸病的成年男性可能会发生高促性腺激素性性腺功能减退。
