CAJ | 학술논문

目的探讨常染色体隐性遗传性多囊肾的临床及遗传学特点.方法对北京协和医院儿科诊断的1例常染色体隐性遗传性多囊肾患儿的临床特点进行分析；采用目标序列捕获测序分析,对患儿进行PKHD1基因分析,再经PCR反应对高危突变进行验证；并进行相关文献复习.结果患儿男,2岁3个月,腹部膨隆1年余.腹部超声提示:肝脏弥漫性病变,肝内小胆管扩张；双肾结构紊乱,内见多个强回声,临床上高度怀疑多囊肾性疾病.目标序列捕获测序分析PKHD1基因,在外显子32、50内发现两个高危突变,分别为c.4274T＞G p.Leu1425Arg,c.7973T＞A p.Leu2658Ter,经PCR进行验证发现其父具有c.4274T＞G的改变.结论常染色体隐性遗传性多囊肾表现为肾脏多发囊肿,肝囊肿及肝脏纤维化、肝内胆管扩张；PKHD1基因检出致病突变c.4274T＞G和c.7973T＞A.
목적 탐토상염색체은성유전성다낭신적림상급유전학특점.방법 대북경협화의원인과진단적1례상염색체은성유전성다낭신환인적림상특점진행분석；채용목표서렬포획측서분석,대환인진행PKHD1기인분석,재경PCR반응대고위돌변진행험증；병진행상관문헌복습.결과 환인남,2세3개월,복부팽륭1년여.복부초성제시:간장미만성병변,간내소담관확장；쌍신결구문란,내견다개강회성,림상상고도부의다낭신성질병.목표서렬포획측서분석PKHD1기인,재외현자32、50내발현량개고위돌변,분별위c.4274T＞G p.Leu1425Arg,c.7973T＞A p.Leu2658Ter,경PCR진행험증발현기부구유c.4274T＞G적개변.결론 상염색체은성유전성다낭신표현위신장다발낭종,간낭종급간장섬유화、간내담관확장；PKHD1기인검출치병돌변c.4274T＞G화c.7973T＞A.
Objective The purpose of this study was to investigate the clinical and genetic characteristics of autosomal recessive polycystic kidney disease.Method Targeted sequencing was used on a children who was accurately diagnosed as autosomal recessive polycystic kidney disease in Peking Union Medical College Hospital to analyze the major clinical manifestations of the disease.An analysis of the PKHD1 genes was made on the patient,and then verified by polymerase chain reaction (PCR).And the related literature was reviewed also.Result The patient was a boy,2 years and 3 months old,and had abdominal distention for about one year.The abdominal ultrasound suggested diffuse liver lesions,mild intrahepatic bile duct dilatation,structure disturbance of both kidneys,appearance of multiple strong echo.The child was clinically highly suspected of polycystic kidney disease.Targeted sequencing showed two mutations in exon 32 and exon 50 of PKHD1 gene,respectively,c.4274T ＞ G,leading to p.Leu1425Arg,c.7973T ＞ A,leading to p.Leu2658Ter.Verified by PCR,the father has one mutation of c.4274T ＞ G.Conclusion The clinical manifestations of autosomal recessive polycystic kidney disease are multiple renal cyst,cyst of liver and liver fibrosis,intrahepatic bile duct dilatation.Two mutations (c.4274T ＞ G,c.7973T ＞ A) in PKHD1 gene may be pathogenic.