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小儿肾上腺皮质癌合并尿酸肾结石:一例独特病例报告

Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report.

作者信息

Zhang Mao, Guo Wenping, Li Hengping, Xi Xinsheng

机构信息

Department of Urology, Gansu Provincial Hospital, 204 Donggang West Road, Chengguan District, Lanzhou, 730000, China.

出版信息

BMC Urol. 2025 Apr 30;25(1):109. doi: 10.1186/s12894-025-01801-y.

Abstract

BACKGROUND

Adrenocortical carcinoma (ACC) is an exceedingly rare malignancy in children, typically presenting with Cushing's syndrome due to excessive hormone secretion. The occurrence of uric acid nephrolithiasis in pediatric ACC patients is exceptionally uncommon.

CASE PRESENTATION

We report the case of a 5-year-old boy who exhibited symptoms of Cushing's syndrome over a period of 10 months, including rapid weight gain, moon face, and increased chest and back hair growth. Laboratory tests revealed elevated cortisol, 17-hydroxyprogesterone, and testosterone levels. Imaging studies identified a 6.6 × 5.6 cm mass in the left adrenal gland, which was confirmed as ACC through biopsy and immunohistochemistry. One day prior to the scheduled adrenalectomy, the patient developed renal colic due to multiple kidney stones, as evidenced by emergency CT scans showing bilateral nephrolithiasis and a stone in the left upper ureter with mild hydronephrosis. Postoperatively, the patient spontaneously expelled brick-red uric acid stones. With glucocorticoid replacement therapy, his hormonal levels and clinical symptoms normalized within a year. A four-year follow-up revealed no recurrence of ACC or urolithiasis, and his hormonal parameters remained within normal ranges.

CONCLUSION

This case highlights the rare association between ACC and uric acid nephrolithiasis in children. The spontaneous passage of uric acid stones provides insights into the link between stone formation and metabolic disorders, emphasizing the need for comprehensive endocrine and metabolic assessments in pediatric ACC management.

摘要

背景

肾上腺皮质癌(ACC)在儿童中是一种极其罕见的恶性肿瘤,通常因激素分泌过多而表现为库欣综合征。小儿肾上腺皮质癌患者发生尿酸肾结石的情况极为罕见。

病例报告

我们报告了一名5岁男孩的病例,该男孩在10个月的时间里出现了库欣综合征的症状,包括体重快速增加、满月脸以及胸背部毛发增多。实验室检查显示皮质醇、17-羟孕酮和睾酮水平升高。影像学检查发现左肾上腺有一个6.6×5.6厘米的肿块,经活检和免疫组化确诊为肾上腺皮质癌。在预定的肾上腺切除术的前一天,患者因多发性肾结石出现肾绞痛,急诊CT扫描显示双侧肾结石以及左输尿管上段有结石伴轻度肾积水。术后,患者自行排出砖红色尿酸结石。通过糖皮质激素替代治疗,他的激素水平和临床症状在一年内恢复正常。四年的随访显示肾上腺皮质癌或尿路结石均未复发,其激素参数仍在正常范围内。

结论

该病例突出了儿童肾上腺皮质癌与尿酸肾结石之间的罕见关联。尿酸结石的自行排出为结石形成与代谢紊乱之间的联系提供了见解,强调了在小儿肾上腺皮质癌管理中进行全面内分泌和代谢评估的必要性。

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