Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

American Journal of Medical Genetics

Volumn 76, Issue 2, 1998, Pages 137-144

  Zerres, Klaus ^a   Mücher, Gabi ^a   Becker, Jutta ^a   Steinkamm, Carsten ^a   Rudnik Schöneborn, Sabine ^a   Heikkilä, Päivi ^b   Rapola, Juhani ^b   Salonen, Riitta ^b   Germino, Gregory G ^c   Onuchic, Luiz ^c   Somlo, Stefan ^d   Avner, Ellis D ^e   Harman, Leigh A ^f   Stockwin, John M ^g   Guay Woodford, Lisa M ^g,h  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF HELSINKI   (Finland)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^e CASE WESTERN RESERVE UNIVERSITY   (United States)

^f UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^g and Clinical Center   (United States)

^h University of Alabama at Birmingham and Children's Hospital   (United States)

Author keywords

Autosomal recessive polycystic kidney disease; Fetal morphology; Molecular genetics; Prenatal diagnosis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 6P; DIAGNOSTIC ACCURACY; FETUS; FETUS ECHOGRAPHY; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HIGH RISK PREGNANCY; HUMAN; HUMAN TISSUE; INFANT MORTALITY; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SIBLING;

ADULT; CHILD, PRESCHOOL; CHROMOSOME BANDING; FEMALE; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MALE; PEDIGREE; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; PREGNANCY; PRENATAL DIAGNOSIS; ULTRASONOGRAPHY, PRENATAL;

EID: 0032485302     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980305)76:2<137::AID-AJMG6>3.0.CO;2-Q     Document Type: Article

References (30)

1. Bear JC, Parfrey PS, Morgan JM, Martin CJ, Cramer BC (1992): Autosomal dominant polycystic kidney disease: New information for genetic counselling. Am J Med Genet 43:548-553.
2. Bernstein J, Slovis T (1992): Polycystic kidney diseases of the kidney. In Edelmann CMJ (ed): "Pediatric Kidney Disease." Boston: Little, Brown and Company, pp 1139-1153.
3. Blyth H, Ockenden BG (1971): Polycystic disease of kidneys and liver presenting in childhood. J Med Genet 8:257-284.
4. Bosniak MA, Ambos MA (1975): Polycystic kidney disease. Sem Roentgenol 10:133-143.
5. Cobben JM, Breuning MH, Schools C, TenKate LP, Zerres K (1990): Congenital hepatic fibrosis in autosomal dominant polycystic kidney disease. Kidney Int 38:880-885.
6. Cole BR, Conley SB, Stapleton FB (1987): Polycystic kidney disease in the first year of life. J Pediatr 111:693-699.
7. Deget F, Rudnik-Schöneborn S, Zerres K (1995): Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings. A clinical comparison of 20 sibships. Clin Genet 47:248-253.
8. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996): A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380.
9. Eggermann T, Nöthen MM, Propping P, Schwanitz G (1994): Molecular diagnosis of trisomy 18 using DNA recovered from paraffin embedded tissues and possible implications for genetic counselling. Ann Genet 36:214-216.
10. Garel L (1984): Sonography of renal cystic disease and dysplasia in infants and children. In Brodehl J, Ehrich JHH (eds): "Pediatric Nephrology." Berlin: Springer, pp 359-362.
11. Guay-Woodford LM (1996): Autosomal recessive polycystic kidney disease: Clinical and genetic profiles. In Torres VE, Watson M (eds): "Polycystic Kidney Disease." Oxford: Oxford University Press, pp 236-266.
12. Guay-Woodford LM, Mücher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, Herrin J, Holleman R, Irons DA, Primack W, Thomson PD, Waldo FB, Lunt PW, Zerres K (1995): The severe form of autosomal recessive polycystic kidney disease (ARPKD) maps to chromosome 6p21.1-p12: Implications for genetic counselling. Am J Hum Genet 56: 1101-1107.
13. Guay-Woodford LM, Galliani CA, Spear GS, Guillot AP, Bernstein J (1998): The spectrum of diffuse renal cystic disease in children: Morphologic and genetic correlations. Pediatr Nephrol (in press).
14. Kaplan BS, Fay J, Shah V, Dillon MJ, Barratt TM (1989): Autosomal recessive polycystic kidney disease. Pediatr Nephrol 3:43-49.
15. Luthy DA, Hirsch JH (1985): Infantile polycystic kidney disease: Observations from attempts at prenatal diagnosis. Am J Genet 20:505-517.
16. Mücher G, Wirth B, Zerres K (1995): Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12. Am J Hum Genet 55:1281-1284.
17. Mücher G, Becker J, Knapp M, Büttner R, Moser M, Rudnik-Schöneborn S, Somlo S, Germino S, Onuchic L, Avner E, Guay-Woodford L, Zerres K (1998): Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MCM, RDS, CKII-β, GSTA1 at 6p21.1-p12. Genomics (in press).
18. Orphanos V, Santibanez-Koref M, Hey Y, Rackstraw C, Boyle JM (1993): Physical mapping of 43 STSs to human chromosome 6. Genomics 20: 301-304.
19. Ogborn MR (1994): Polycystic kidney disease - a truly pediatric problem. Pediatr Nephrol 8:762-767.
20. Potter EL (1972): "Normal and Abnormal Development of the Kidney." Chicago: Year Book Medical Publishers.
21. Summerfield JA, Nagafuchi Y, Sherlock S, Cadafalch J, Scheuer PJ (1986): Hepatobiliary fibropolycystic diseases: A clinical and histological review of 51 patients. J Hepatol 2:141-156.
22. Takehara Y, Takehara M, Naijo M, Kato T, Nishimura T, Isoda H, Kaneko M (1989): Caroli's disease associated with polycystic kidney: Its noninvasive diagnosis. Rad Med 7:13-15.
23. Volz A, Boyle JM, Cann HM, Cottingham RW, Orr HT, Ziegler A (1994): Report of the second international workshop on human chromosome 6. Genomics 21:464-472.
24. Wisser J, Hebisch G, Froster U, Zerres K, Stallmach T, Leumann E, Schinzel A, Huch A (1995): Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimester. Prenatal Diagn 15:868-871.
25. Zerres K (1992): Autosomal recessive polycystic kidney disease. Clin Invest 70:794-801.
26. Zerres K, Völpel MC, Weiß H (1984): Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis. Hum Genet 68:104-135.
27. Zerres K, Hansmann M, Mallmann R, Gembruch U (1988): Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenatal Diagn 8:215-229.
28. Zerres K, Mücher G, Bachner L, Deschennes G, Eggermann T, Kääriäinen H, Knapp M, Lennert T, Misselwitz J, von Mühlendahl KE, Neumann HPH, Pirson Y, Rudnik-Schöneborn S, Steinbicker V, Wirth B, Schärer K (1994): Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nature Genet 7:429-432.
29. Zerres K, Mücher G, Rudnik-Schöneborn S, Smith P, Lunt P, Charles A, Porter H (1995): Early morphological evidence of autosomal recessive polycystic kidney disease. Lancet 345:987.
30. Zerres K, Rudnik-Schöneborn S, Deget F, Holtkamp U, Brodehl J, Geisert J, Schärer K (1996): Clinical course of 115 children with autosomal recessive polycystic kidney disease. Acta Peadiatr 85:437-445.