摘要
目的 探讨围产期发病的婴儿型多囊肾患儿的临床表现、影像学特点、病理改变、治疗及预后.方法 报道1例围产期发病的婴儿型多囊肾的临床资料,并在Pubmed、OVID及Elsevier和国内CNKI、万方等医学文献数据库,采用多囊肾、婴儿、围产期、常染色体隐性遗传、病例报道为关键词进行检索,对其中10篇文献报道的11例进行文献复习.结果 包括本文在内的共12例围产期婴儿型多囊肾患儿：胎龄33 ～ 37周;男6例,女6例;其中宫内诊断8例,诊断胎龄为20 ～ 34周,胎儿期B超提示羊水减少、双肾肿大并强回声、小膀胱或膀胱空虚,或胸廓狭小;12例患儿生后均有气促、发绀或呻吟等呼吸窘迫表现,合并气胸5例;6例在新生儿期死于呼吸衰竭,1例生后2个月死于肾功能衰竭,余5例存活,均有不同程度高血压、氮质血症、少尿等肾功能不全的临床表现,其中4例行肾切除（单侧3例,双侧1例）和透析治疗,1例行肾移植治疗此5例患儿随访时闾为19个月～11岁,生长发育处于5～50百分位,智力评估基本正常.结论 围产期婴儿型多囊肾患儿病情重、预后差,生后早期即死于肺发育不全或肾功能不全,提倡对具有高危因素的患儿进行宫内胎儿B超的动态监测、相关基因检测.生后积极呼吸支持治疗以及适时肾替代性治疗或可改善预后.
Objective To summarize the clinical characteristics,diagnosis,treatments and outcomes of perinatal autosomal recessive polycystic kidney disease.Methods The clinical data of one case with infantile polycystic kidney diseasc diagnosed in perinatal stage and The reports of 11 cases seen in the past 15 years searched in Pubmed,OVID and Elsevier and CNKI,Wanfang database by using the polycystic kidney disease,infant,perinatal,autosomal recessive and case report as keyword were reviewed and analyzed.Results The infant was characterized by buge kidneys,sevcre respiratory and renal compromise.The kidneys were symmetrically enlarged and highly echogenic by ultrasonographic examination and showed high-signal intensity on T2-weighted images by MRI.Histologic analysis showed pulmonary hypoplasia,numerous dilated and elongated tubular structures in the kidney and dilated intrahepatic biliary ducts.Among the 12 cases,8 cases＇ presumptive diagnosis was made by prenatal ultrasound revealed enlarged kidneys and oligohydramnios.All cases suffered respiratory distress after birth,and 5 cases complicated pneumothorax.6 cases died in neonatal stage because of respiratory failure.1 case died 2 m after birth because of renal failure.Five cases are alive and underwent dialysis,nephrectomy or renal transplant.Conclusion Newborn infants with perinatal autosomal recessive polycystic kidney disease often have poor outcome and died from respiratory and renal failure.Aggressive respiratory support and renal replacement therapy （including nephrectomy,dialysis and transplantation） may give these infants a favorable outcome.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2013年第5期377-381,共5页
Chinese Journal of Pediatrics
基金
浙江省教育厅科研项目（200908558）
关键词
多囊肾
常染色体隐性
婴儿
Polycystic kidney,autosomal recessive
Infant
