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The clinical investigator

, Volume 70, Issue 9, pp 794–801 | Cite as

Autosomal recessive polycystic kidney disease

  • K. Zerres
Guest Lecture, “Gesellschaft für Nephrologie”, 23rd Congress

Summary

Autosomal recessive polycystic kidney disease is a rare inherited disorder which usually becomes clinically manifest in early childhood, whereas autosomal dominant polycystic kidney disease usually is a disorder of adult onset. With increasing knowledge and improving diagnostic techniques, it becomes evident that the spectrum of both entities is much more variable than generally known. The presentation of autosomal recessive polycystic kidney disease at later ages and survival into adulthood have been reported. The diagnostic criteria, clinical course, genetics and differential diagnosis of autosomal recessive polycystic kidney disease will be presented.

Key words

Polycystic kidney disease Autosomal recessive Congenital hepatic fibrosis Caroli syndrome 

Abbreviations

ADPKD, ARPKD

autosomal dominant/recessive polycystic kidney disease

CHF

congenital hepatic fibrosis

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References

  1. 1.
    Blyth H, Ockenden BG (1971) Polycystic disease of kidneys and liver presenting in childhood. J Med Genet 8:257–284.CrossRefGoogle Scholar
  2. 2.
    Bosniak MA, Ambos MA (1975) Polycystic kidney disease. Semin Roentgenol 10:133–143.CrossRefGoogle Scholar
  3. 3.
    Chilton SJ, Cremin BJ (1981) The spectrum of polycystic disease in children. Pediatr Radiol 11:9–15.CrossRefGoogle Scholar
  4. 4.
    Cobben JM, Breuning MH, Schoots C, TenKate LP, Zerres K (1990) Congenital hepatic fibrosis in autosomal dominant polycystic kidney disease. Kidney Int 38:880–885.CrossRefGoogle Scholar
  5. 5.
    Cole B (1990) Autosomal recessive polycystic kidney disease. In: Gardner KD, Bernstein J (eds) The cystic kidney. Kluwer, Dordrecht, p 295.Google Scholar
  6. 6.
    Cole BR, Conley SB, Stapleton FB (1987) Polycystic kidney disease in the first year of life. J Pediatr 111:693–699.CrossRefGoogle Scholar
  7. 7.
    Gabow PA (1991) Polycystic kidney disease: clues to pathogenesis. Kidney Int 40:989–996.CrossRefGoogle Scholar
  8. 8.
    Gang GL, Herrin JT (1986) Infantile polycystic disease of the liver and kidneys. Clin Nephrol 25:28–36.PubMedGoogle Scholar
  9. 9.
    Guay-Woodford LM, D'Eustachio P, Mücher G, Uhlhaas S, Zerres K (1990) Testing the hypothesis that murine congenital polycystic kidney disease (cpk) and human autosomal recessive polycystic kidney disease (ARPKD) affect homologous genes. JASN 1:300A.Google Scholar
  10. 10.
    Kääriäinen H (1987) Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients. J Med Genet 24:474–481.CrossRefGoogle Scholar
  11. 11.
    Kääriäinen H, Jääskeäinen J, Kirisaari L, Koskimies O, Norio R (1988) Dominant and recessive polycystic kidney disease in children: classification by intravenous pyelography, ultrasound and computed tomography. Pediatr Radiol 18:45–50.CrossRefGoogle Scholar
  12. 12.
    Kääriäinen H, Koskimies O, Norio R (1988) Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data. Pediatr Nephrol 2:296–302.CrossRefGoogle Scholar
  13. 13.
    Kaplan BS, Fay J, Shah V, Dillon MJ, Barrett TM (1989) Autosomal recessive polycystic kidney disease. Pediatr Nephrol 3:43–49.CrossRefGoogle Scholar
  14. 14.
    Liebermann E, Salinas-Madrigal L, Gwinn JL, Brennan LP, Fine RN (1971) Infantile polycystic disease of the kidneys and liver. Medicine 50:277–318.CrossRefGoogle Scholar
  15. 15.
    Lundin PM, Olow I (1961) Polycystic kidneys in newborns, infants and children, a clinical and pathological study. Acta Paediatr 50:185–200.CrossRefGoogle Scholar
  16. 16.
    Marquardt W (1935) Cystennieren, Cystenleber und Cystenpancreas bei zwei Geschwistern. Thesis, University of Tübingen.Google Scholar
  17. 17.
    Morin PR, Potier M, Dallaire L, Melancon SB, Boisvert J (1981) Prenatal detection of the autosomal dominant recessive type of polycystic kidney disease by trehalase assay in amniotic fluid. Prenat Diagn 1:75–79.CrossRefGoogle Scholar
  18. 18.
    Nakanuma Y, Terada T, Ohtal G, Kurachi M, Matsubara F (1982) Caroli's disease in congenital hepatic fibrosis and infantile polycystic disease. Liver 2:346–354.CrossRefGoogle Scholar
  19. 19.
    Neumann HPH, Zerres K, Fischer CL, Wolff G, Schaefer HE, Gal A, Wirth B, Kröpelin T, Haag K, Schollmeyer P (1988) Late manifestation of autosomal-recessive polycystic kidney disease in two sisters. Am J Nephrol 8:194–197.CrossRefGoogle Scholar
  20. 20.
    Osathanondh V, Potter EL (1964) Pathogenesis of polycystic kidneys. Type I due to hyperplasia of interstitial portions of collecting tubules. Arch Pathol 77:466–473.PubMedGoogle Scholar
  21. 21.
    Potter EL (1946) Facial characteristics of infants with bilateral renal agenesis. Am J Obstet Gynecol 51:885–888.CrossRefGoogle Scholar
  22. 22.
    Potter EL (1972) Normal and abnormal development of the kidney. Year Book Medical, Chicago.Google Scholar
  23. 23.
    Rall JE, Odel HM (1949) Congential polycystic disease of the kidney: review of the literature, and data on 207 cases. Am J Med Sci 218:399–407.CrossRefGoogle Scholar
  24. 24.
    Wirth B, Zerres K, Fischbach M, Claus D, Neumann HPH, Lennert T, Brodehl J, Neugebauer M, Müller-Wiefel DE, Geisert J, Gal A (1987) Autosomal recessive and dominant polycystic kidney disease are not allelic. Hum Genet 77:221–222.CrossRefGoogle Scholar
  25. 25.
    Würsching F (1957) Zur Erbpathologie und Phänogenese der Cystenieren. Thesis, University of Munich.Google Scholar
  26. 26.
    Zerres K (1987) Genetics of cystic kidney diseases. Pediatr Nephrol 1:397–404.CrossRefGoogle Scholar
  27. 27.
    Zerres K, Völpel MC, Weiß H (1984) Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis. Hum Genet 68:104–135.CrossRefGoogle Scholar
  28. 28.
    Zerres K, Hansmann M, Mallmann R, Gembruch U (1988) Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenat Diagn 8:215–229.CrossRefGoogle Scholar

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • K. Zerres
    • 1
  1. 1.Institut für Humangenetik der Universität BonnBonn 3Germany

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