Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Autosomal recessive polycystic kidney disease is among the most common inherited ciliopathies and is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Despite its great phenotypic variability, this condition is usually diagnosed during the neonatal and early infantile periods. We report a 37+3-gestational-week neonate presenting with fatal autosomal recessive polycystic kidney disease who died at 28 hours of life from severe respiratory failure. The familial history is significant because a previous sibling died in utero at 24+2 weeks of gestational age and was diagnosed with polycystic kidney disease based on prenatal ultrasonography and autopsy. Our patient’s autopsy revealed findings compatible with polycystic kidney disease. In addition, a PKHD1 gene study of peripheral blood leukocytes identified the compound heterozygote mutation c.274C>T(p.Arg92Trp), as well as the novel heterozygous nonsense mutation c.2770C>T(p.Gln924*).
Abstract
Autosomal recessive polycystic kidney disease is among the most common inherited ciliopathies and is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Despite its great phenotypic variability, this condition is usually diagnosed during the neonatal and early infantile periods. We report a 37+3-gestational-week neonate presenting with fatal autosomal recessive polycystic kidney disease who died at 28 hours of life from severe respiratory failure. The familial history is significant because a previous sibling died in utero at 24+2 weeks of gestational age and was diagnosed with polycystic kidney disease based on prenatal ultrasonography and autopsy. Our patient’s autopsy revealed findings compatible with polycystic kidney disease. In addition, a PKHD1 gene study of peripheral blood leukocytes identified the compound heterozygote mutation c.274C>T(p.Arg92Trp), as well as the novel heterozygous nonsense mutation c.2770C>T(p.Gln924*).
참고문헌 (21)
- Queisser-Luft A, "Malformations in newborn: results based on 30,940 infants and fetuses from the Mainz congenital birth defect monitoring system (1990-1998)", Arch Gynecol Obstet, 266, pp.163~167 (2002)
- Seikaly MG, "Chronic renal insufficiency in children: the 2001 annual report of the NAPRTCS", Pediatr Nephrol, 18, pp.796~804 (2003)
- Zerres K, "Autosomal recessive polycystic kidney disease", J Mol Med (Berl), 76, pp.303~309 (1998)
- Guay-Woodford LM, "Autosomal recessive polycystic kidney disease: the clinical experience in North America", Pediatrics, 111, pp.1072~1080 (2003)
- Zerres K, "Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen", Nat Genet, 7, pp.429~432 (1994)
- Gunay-Aygun M, "PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis", Mol Genet Metab, 99, pp.160~173 (2010)
- 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)
- Bergmann C, "PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)", Hum Mutat, 23, pp.453~463 (2004)
- Guay-Woodford LM, "The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling", Am J Hum Genet, 56, pp.1101~1107 (1995)
- Deget F, "Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships", Clin Genet, 47, pp.248~253 (1995)
- Zerres K, "Arbeitsgemeinschaft fur Padiatrische Nephrologie. Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender", Acta Paediatr, 85, pp.437~445 (1996)
- Fonck C, "Autosomal recessive polycystic kidney disease in adulthood", Nephrol Dial Transplant, 16, pp.1648~1652 (2001)
- Roy S, "Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors", Pediatr Nephrol, 11, pp.302~306 (1997)
- Bergmann C, "Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)", Kidney Int, 67, pp.829~848 (2005)
- Losekoot M, "Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD)", Hum Genet, 118, pp.185~206 (2005)
- Ward CJ, "The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein", Nat Genet, 30, pp.259~269 (2002)
- Menezes LF, "Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm", Kidney Int, 66, pp.1345~1355 (2004)
- Bergmann C, "Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD", PKHD1), 2003, pp.14, 76~89
- "Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)" (2013)[URL]
- 백재은, "유전자 돌연변이로 확진된 상염색체 열성 다낭신질환 신생아 1례", Neonatal medicine, 21(1), pp.64~68 (2014), 대한신생아학회
- Rossetti S, "Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease", J Am Soc Nephrol, 18, pp.1374~1380 (2007)