小儿多囊肾19例临床分析

Clinical study of 19 children with polycystic kidney

目的探讨小儿多囊肾的临床特点及诊断情况。方法同顾性分析1978年1月-2003年11月收治的19例多囊肾患儿的临床特点及诊疗情况。结果19例中男12例,女7例,年龄中位数为6．5岁,均无父母多囊肾证据。起病时的临床表现为尿异常6例、发热6例、腹部包块2例,余为苍白伴鼻衄、纳差、乏力、腹痛、多发畸形及抽搐。明确诊断时11例已存在不同程度的肾功能异常。均经影像学(主要是B超)诊断为多囊肾。6例经长期随访,2例死亡,3例因终末期肾病而接受透析,1例肾功能正常。结论多囊肾患儿多为常染色体隐性遗传多囊肾,临床表现多样,明确诊断时多已有不同程度的肾功能损害。对尿常规异常的患儿应行B超以及早发现多囊肾。

Objectives To discuss clinical characteristics and early diagnosis of polycystic kidney disease （PKD） in children. Methods Clinical data of patients admitted to our hospital from January 1978 to November 2003 was analyzed retrospectively for clinical characteristics, diagnosis and treatment. Results Twelve （12） boys and seven （7） girls were diagnosed as PKD at a median of 6.5 years of age, None of their parents had the same disease. Abdominal mass was found in two cases, abnormal urinalysis in six cases, febricity in six cases, and paleness, rhinorrhagia, poor appetite, fatigue, bellyache or seizure in the others. Eleven of them had damaged renal function when being diagnosed. All patients were diagnosed by imaging （mostly by ultrasonography）. Among six children who were followed up regularly, two died, three underwent dialysis due to end stage renal disease, one had normal renal function. Conclusions The majority of our patients were autosomal recessive PKD. Clinical manifestations were various when they visited doctors. When being diagnosed, most patients had damaged renal function. Ultrasonography should be applied to children with abnormal urinalysis for early diagnosis of PKD.