유전자 돌연변이로 확진된 상염색체 열성 다낭신질환 신생아 1례
Autosomal Recessive Polycystic Kidney Disease Confirmed to PKHD1 Gene Mutation: A Case of PKHD1 Gene Mutation
0
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
상염색체 열성 다낭신질환은 양측 신장을 광범위하게 침범하는 유전질환으로서, 태아기에 신세뇨관의 발육이상으로발생하며, 대부분의 경우에서 임신 후반기나 신생아기에 발견되고, 산전 초음파에서 신장 크기의 증가를 동반한 음영증가나, 양수 과소증을 확인한다 하더라도 ARPKD를 진단하기는 어렵다. 저자들은 출생 직후부터 임상증상을 보이고,영상의학적으로 팽창된 신장과 담관의 확장을 보여 ARPKD에 합당하며, 유전자 검사로 PKHD1 유전자의 돌연변이를확인하였기에 보고하는 바이다.
Abstract
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that is characterized by enlarged kidneys and congenital hepatic fibrosis. The clinical spectrum of this condition shows wide variation. Approximately 30-50% of affected individuals die in the neonatal period, while others survive into adulthood. ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6p12, which consists of 86 exons variably assembled into many alternatively spliced transcripts. We report a case of a pathogenic PKHD1 frameshift mutation, c.889_931del43, which was identified using direct full sequencing, associated with enlarged cystic kidneys and dilatation of intrahepatic bile duct, as observed on imaging studies.
참고문헌 (17)
- Zerres K, "Autosomal recessive polycystic kidney disease", J Mol Med (Berl), 76, pp.303~309 (1998)
- Zerres K, "Autosomal recessive polycystic kidney disease (ARPKD)", J Nephrol, 16, pp.453~458 (2003)
- Guay-Woodford LM, "Autosomal recessive polycystic kidney disease: the clinical experience in North America", Pediatrics, 111, pp.1072~1080 (2003)
- Bergmann C, "PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)", Hum Mutat, 23, pp.453~463 (2004)
- Choi WK, "Four cases of autosomal recessive polycystic kidney disease", J Korean Soc Pediatr Nephrol, 1, pp.91~96 (1997)
- Jang DG, "Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis", J Obstet Gynaecol Res, 37, pp.1744~1747 (2011)
- Roy S, "Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors", Pediatr Nephrol, 11, pp.302~306 (1997)
- Zerres K, "Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology", Am J Med Genet, 76, pp.137~144 (1998)
- Reuss A, "Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease", Ultrasound Med Biol, 16, pp.355~359 (1990)
- Jeong MS, "Specific prenatal histories and associated congenital anomalies related to hydronephrosis in newborn infants", J Korean Soc Neonatol, 13, pp.105~110 (2006)
- Zerres K, "Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen", Nat Genet, 7, pp.429~432 (1994)
- Ward CJ, "The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein", Nat Genet, 30, pp.259~269 (2002)
- Rossetti S, "A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees", Kidney Int, 64, pp.391~403 (2003)
- 김정태, "Caroli's Syndrome with Autosomal Recessive Polycystic Kidney Disease in a Two Month Old Infant", Yonsei Medical Journal, 47(1), pp.131~134 (2006), 연세대학교의과대학
- Seo JW, "A case of bilateral polycystic kidney: prenatal ultrasonographic diagnosis", Korean J Obstet Gynecol, 34, pp.1625~1629 (1991)
- 임진아, "산전 초음파로 발견된 선천성 신 요로 기형의 발생률과 임상 결과: 단일 기관 연구", Korean Journal of Pediatrics, 52(4), pp.464~470 (2009), 대한소아과학회
- Bergmann C, "Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)", Kidney Int, 67, pp.829~848 (2005)