目的　探讨婴儿型多囊肾临床表型与基因型特点。方法　回顾分析1例婴儿型多囊肾患儿的临床资料，分 析临床表型与基因型的相关性。结果　患儿于胎儿期即发现多囊肾，出生后出现气促、口吐泡沫。腹部磁共振提示双肾 髓质海绵肾可能伴双肾轻度积液、右肾囊肿。基因检测患儿PKHD1基因Exon15存在错义突变c.1123 C>T（Arg375Trp）； PKHD1基因Exon31存在错义突变c.3617G>T（Gly1206Val），且为新型错义突变体；PKD1基因Exon18存在错义突变 c.7211G>A (Arg2404Gln)，为复合杂合突变纯合子；突变性质均为错义突变。患儿经治疗后好转出院，随访至4个月， 肾功能无异常。结论　基因检测可早期诊断婴儿型多囊肾，存在两个错义突变的新生儿可以生存，新发现Exon31突变 c.3617G>T（Gly1206Val）。

Objective　To explore the clinical phenotype and genotype characteristics of infantile polycystic kidney. Method　The clinical data of polycystic kidney disease in one infant were retrospectively analyzed, and the correlation between clinical phenotype and genotype was analyzed. Results　In this infant the polycystic kidney was discoved in the fetal period, and shortness of breath, foaming at the mouth were present after birth. Abdominal magnetic resonance imaging indicated that there was medullary sponge kidney in both kidneys accompanied by mild effusion and cysts were found in the right kidney. Gene detection showed a missense mutation c.1123 C>T (Arg375Trp) of exon15 in PKHD1 gene. The exon31 of PKHD1 gene had a missense mutation c.3617G>T (Gly1206Val), which was a new missense mutation. The exon18 of PKD1 gene had a missense mutation c.7211G>A (Arg2404Gln), which is a complex heterozygous mutant of homozygote.  All of the mutations are  missense mutations. The infant was improved and discharged after treatment, and renal function was normal during 4 months of follow-up. Conclusion　Gene detection can be used for early diagnosis of infantile polycystic kidney disease. Newborns with two missense mutations can survive, and exon31 mutation c.3617G>T (Gly1206Val) is a new finding.