小儿囊肿性肾病47例

Forty-Seven Children with Renal Cystic Disease

目的探讨小儿囊肿性肾病的常见病因及其临床特点。方法本院1995年1月～2006年12月共收治47例囊肿性肾病患儿。男31例,女16例;诊断时年龄1h～14岁;回顾分析其病因和临床特点。结果遗传性21例(44.68%)。包括常染色体隐性遗传多囊肾病(ARPKD)16例(34.04%),肾单位肾痨(NPH)5例(10.64%);发育异常24例(51.07%)。包括髓质海绵肾(MSK)13例(27.66%),囊肿性肾发育不良(CRD)10例(21.28%)及孤立多房性肾囊肿(SMC)1例(2.13%);获得性2例(4.25%),均为单纯性肾囊肿(SRC)。16例ARPKD囊肿分布于皮质和髓质,肾衰竭12例(75%),肾脏外损害9例(56.25%)。5例NPH囊肿分布于皮髓质交界处,肾衰竭5例(100%),缺血性视网膜炎致盲1例(20%)。13例MSK囊肿局限于肾锥体,各有3例(23.08%)表现为继发性肾结石、泌尿系感染(UTI)和远端肾小管酸中毒,另2例(15.38%)表现为继发性肾积水,肾衰竭2例(15.38%)与病程长、结石并反复感染有关。10例CRD均为单肾囊性变,表现为腹部包块7例(70%),宫内诊断5例(50%)。SRC2例和SMC1例均为局灶性肾囊肿,仅表现为腹部包块,手术切除后痊愈。结论小儿囊肿性肾病以遗传性及发育异常性疾病为主,常见病因有ARPKD、NPH、MSK和CRD;ARPKD和NPH为进行性肾衰竭或肾外病变,预后差;MSK和CRD属肾脏发育异常,尽早诊断和治疗,预后好。

Objective To investigate the common etiology and clinical manifestations of renal cystic disease in childhood.Method The etiology and clinical manifestations were retrospectively analyzed among 47 children（31 males,16 females,aged from 1 hour to 14 years old）with renal cystic diseases admitted to this hospital from Jan.1995 to Dec.2006.Results Among the total 47 cases,there were 21 cases of hereditary renal cystic diseases（44.68%）including 16 cases of autosomal recessive polycystic kidney disease（ARPKD）（34.04%）and 5 cases of nephronophthisis（NPH）（10.64%）;24 anatomic malformations（51.09%）including 13 cases of medullary sponge kidney（MSK）（27.36%）,10 cases of cystic renal dysplasia（CRD）（21.28%）and 1 case of solitary multilocular cysts（SMC）（2.13%）;2 cases of acquired renal cystic diseases which were simple renal cysts（SRC）（4.25%）.In the 16 cases of APRKD,the cysts extensively distributed in the renal cortex and medulla.Twelve cases（75%）developed with renal failures,9 cases（56.25%）involved other organs than the kidney.Among all of the 5 cases with NPH,the cysts located at corticomedullary border.All 5 cases had renal failure,and 1 case coincidenced with ischemic retinitis.Among the 13 cases with MSK,the cysts were limited at papilla;3 cases had distal renal tubular acidosis;3 cases had urinary tract infection（UTI）;3 cases had renal calculi;2 cases had secondary obstructive hydronephrosis;2 cases（15.38%）progressed to renal failure,which might resulted from long-term history and repeated UTI caused by renal calculi.Among the 10 cases with CRD,all the cysts involved only 1 kidney in each case;7 cases manifested with abdominal masses;5 cases were diagnosed in uterus.Two cases of SRC and 1 case of SMC were with local cysts which showed abdominal masses.They completely recovered after operative interventions.Conclusions The common etiology of renal cystic disease in childhood includes ARPKD,NPH,MSK and CRD.APRKD and NPH usually have poor prognosis,which ascribe to progressive intra-or extra-renal pathological damages.MSK and CRD are caused by malformation.Early diagnosis and appropriate therapy usually contribute to good prognosis.