Termos Salah, AlKabbani Majd, Ulinski Tim, Sanjad Sami, Kotobi Henri, Chalard Francois, Aoun Bilal
Hepatobiliary and Transplant Unit, Department of Surgery, Al-Amiri Hospital, Kuwait City, Kuwait.
Pediatric Nephrology, Armand Trousseau Hospital, APHP, Paris, France.
Case Rep Nephrol. 2017;2017:9852912. doi: 10.1155/2017/9852912. Epub 2017 Oct 17.
Congenital ureteropelvic junction obstruction (UPJO) is the most common cause of upper urinary tract obstruction in children. It is generally diagnosed in the routine work-up during antenatal period and is characterized by spontaneous recovery. It can be associated with urolithiasis; hence further investigation should be carried out. We report the case of a 15-year-old boy, who is known to have right UPJO, presented with right renal colic and discovered to have bilateral kidney stones. Further studies showed primary hyperparathyroidism and genetic analysis revealed a CDC73 mutation (initially HRPT2). We believe that association of UPJO and PHPT is a rare coincidence that can be linked. Careful work-up of children with UPJO and urolithiasis is recommended to exclude an underlying metabolic disease. Surgical correction can be evitable as treatment of the primary cause can lead to complete dissolution of kidney stones and improvement of the medical condition.
先天性肾盂输尿管连接处梗阻（UPJO）是儿童上尿路梗阻最常见的原因。它通常在产前常规检查中被诊断出来，其特点是可自发恢复。它可能与尿路结石有关；因此应进一步进行检查。我们报告了一例15岁男孩的病例，该男孩已知患有右侧UPJO，出现右侧肾绞痛，经检查发现双侧肾结石。进一步检查显示为原发性甲状旁腺功能亢进，基因分析发现CDC73突变（最初为HRPT2）。我们认为UPJO和PHPT的关联是一种罕见的巧合，两者可能存在联系。建议对患有UPJO和尿路结石的儿童进行仔细检查，以排除潜在的代谢性疾病。由于治疗原发性病因可导致肾结石完全溶解并改善病情，手术矫正可能是不必要的。
