Pediatric Radiology

, Volume 23, Issue 2, pp 131–133 | Cite as

Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease

Report of a family with review of literature
  • B. Lipschitz
  • W. E. Berdon
  • A. R. Defelice
  • J. Levy
Originals

Abstract

The association of autosomal recessive polycystic kidney disease (ARPKD) with congential hepatic fibrosis (CHF) is well known; a rare occurrence is that of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease (ADPKD). We report a family with ADPKD in which congenital hepatic fibrosis with severe portal hypertension (PHT) presented in a 4-year-old girl; the kidneys were initially normal. Typical changes of autosomal dominant polycystic kidney disease developed in the next decade and were also found in the mother and sister (neither of whom had any evidence of portal hypertension). Severe variceal bleeding was treated by sclerotherapy and beta receptor blocade.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Kerr DNS, Harrison CV, Sherlock S, Walker RM (1961) Congenital hepatic fibrosis. Q J Med 30: 91–117PubMedGoogle Scholar
  2. 2.
    Sommerschild HC, Langmark F, Maurseth K (1973) Congenital hepatic fibrosis: report of two new cases and review of the literature. Surgery 73: 53–58PubMedGoogle Scholar
  3. 3.
    Kerr DNS, Warrick CK, Hart-Mercer J (1962) A lesion resembling medullary sponge kidney in patients with congenital hepatic fibrosis. Clin Radiol 13: 85–91PubMedGoogle Scholar
  4. 4.
    Blyth H, Ockenden BG (1971) Polycystic disease of kidneys and liver presenting in childhood. J Med Genet 8: 257–284PubMedGoogle Scholar
  5. 5.
    Premkumar A, Berdon WE, Levy J, Amodio J, Abramson SJ, Newhouse JH (1988) The emergence of hepatic fibrosis and portal hypertension in infants and children with autosomal recessive polycystic kidney disease. Pediatr Radiol 18: 123–129PubMedGoogle Scholar
  6. 6.
    Tazelaar HD, Payne JA, Patel NS (1984) Congenital hepatic fibrosis and asymptomatic familial adult-type polycystic kidney disease in a 19-year-old woman. Gastroenterology 86: 757–760PubMedGoogle Scholar
  7. 7.
    Cobben JM, Breuning MH, Schoots C, Ten Kate LP, Zerres K (1990) Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease. Kidney Int 38: 880–885PubMedGoogle Scholar
  8. 8.
    Matsuda O, Ideura T, Shinoda T et al (1990) Polycystic kidney of autosomal dominant inheritance, polycystic liver and congenital hepatic fibrosis in a single kindred. Am J Nephrol 10: 237–241PubMedGoogle Scholar
  9. 9.
    De Vos M, Barbier F, Cuvelier C (1988) Congenital hepatic fibrosis. J Hepatol 6: 222–228PubMedGoogle Scholar
  10. 10.
    Lee FI, Paes AR (1985) Congenital hepatic fibrosis and adulttype autosomal dominant polycystic kidney disease in a child. Postgrad Med J 61: 641–642PubMedGoogle Scholar
  11. 11.
    Murray-Lyon IM, Ockenden BG, Williams R (1973) Congenital hepatic fibrosis—is it a single clinical entity? Gastroenterology 64:653–656PubMedGoogle Scholar
  12. 12.
    Hoeffel J-C, Jacottin G, Bourgeois J-M (1971) A propos d'une famille associant des cas de polykystose rénale de type juvénile et de type adulte. Ann Radiol 14: 205–209PubMedGoogle Scholar
  13. 13.
    Gaisford W, Bloor K (1968) Congenital polycystic disease of kidneys and liver. Portal hypertension—portocaval anastomosis. Proc R Soc Med 61: 305PubMedGoogle Scholar
  14. 14.
    Lieberman E, Salinas-Madrigal L, Gwinn JL, Brennan LP, Fine RN, Landing BH (1971) Infantile polycystic disease of the kidneys and liver. Medicine 50: 277–318PubMedGoogle Scholar
  15. 15.
    MacMahon, HE (1929) Congenital anomalies of the liver. Am J Pathol 5: 499–507Google Scholar
  16. 16.
    Alvarez F, Bernard O, Brunelle F et al (1981) Congenital hepatic fibrosis in children. J Pediatr 99: 370–375PubMedGoogle Scholar
  17. 17.
    Mulutinovac J, Fialkow PJ, Rudd TG, Agada LY, Phillips LA, Brant JI (1980) Liver cysts in patients with autosomal dominant polycystic kidney disease. Am J Med 68: 741–744PubMedGoogle Scholar
  18. 18.
    Bradford WD, Bradford JW, Porter FS, Sidbury JB (1968) Cystic disease of the liver and kidney with portal hypertension: a cause of sudden unexpected hematemesis. Clin Pediatr 7: 299–306Google Scholar
  19. 19.
    Reeders ST, Breuning MH, Davies KE et al (1988) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317: 542–544Google Scholar
  20. 20.
    Romeo G, Devoto M, Costa G (1988) A second genetic locus for autosomal dominant polycystic kidney disease. Lancet I:8–10Google Scholar
  21. 21.
    Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Sujansky E, Gabow PA (1988) Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med 319: 913–918PubMedGoogle Scholar
  22. 22.
    Grantham JJ (1988) Polycystic kidney disease—a old problem in a context. N Engl J Med 319: 944–946PubMedGoogle Scholar
  23. 23.
    Nathan M, Batsakis JG (1969) Congenital hepatic fibrosis. Surgery 128: 1033–1041Google Scholar
  24. 24.
    Wakabayashi T, Fugita S, Ohbara Y et al (1983) Polycystic kidney disease and intracranial aneurysms. Early angiographic diagnosis and early operation for the unruptured aneurysms. J Neurosurg 58: 488–491PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • B. Lipschitz
    • 1
  • W. E. Berdon
    • 2
  • A. R. Defelice
    • 1
  • J. Levy
    • 3
  1. 1.Department of Pediatric Gastrointestinal Diseases, Babies HospitalColumbia Presbyterian Medical CenterNew YorkUSA
  2. 2.Department of Pediatric Radiology, Babies HospitalColumbia Presbyterian Medical CenterNew YorkUSA
  3. 3.Department of Gastrointestinal DiseasesNew York Hospital, Cornell UniversityNew YorkUSA

Personalised recommendations