Familial progressive tubulo-interstitial nephropathy and cholestatic liver disease - A newly recognized entity?

European Journal of Pediatrics

Volumn 156, Issue 9, 1997, Pages 723-726

  Neuhaus, T J ^a   Stallmach, T ^b   Leumann, E ^a   Altorfer, J ^c   Braegger, C P ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c KLINIK HIRSLANDEN   (Switzerland)

Author keywords

Cholestatic liver disease; Familial; Primary sclerosing cholangitis; Tubulo interstitial nephropathy

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHOLESTASIS; CLINICAL FEATURE; FAMILIAL DISEASE; FEMALE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTERSTITIAL NEPHRITIS; KIDNEY TRANSPLANTATION; MALE; PRESCHOOL CHILD; PRIMARY SCLEROSING CHOLANGITIS; PRIORITY JOURNAL; SYNDROME DELINEATION;

BIOPSY; CHILD; CHILD, PRESCHOOL; CHOLANGITIS, SCLEROSING; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HUMANS; KIDNEY; KIDNEY FAILURE, CHRONIC; KIDNEY FUNCTION TESTS; KIDNEY TRANSPLANTATION; LIVER; LIVER CIRRHOSIS, BILIARY; LIVER FUNCTION TESTS; MALE; NEPHRITIS, INTERSTITIAL; RENAL DIALYSIS;

EID: 0030930209     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050699     Document Type: Article

References (26)

1. Baker AJ, Portmann B, Westaby D, Wilkinson M, Karani J, Mowat AP (1993) Neonatal sclerosing cholangitis in two siblings: a category of progressive intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 17:317-322
2. Banatvala N, Davies J, Kanariou M, Strobel S, Levinsky R, Morgan G (1994) Hypogammaglobulinaemia associated with normal or increased IgM (the hyper IgM syndrome): a case series review. Arch Dis Child 71:150-152
3. Bernstein J, Chandra M, Creswell J, Kahn E, Malouf NN, McVicar M, Weinberg AG, Wybel RE (1987) Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. Am J Med Genet 26:391-403
4. Blankenberg TA, Ruebner BH, Ellis WG, Bernstein J, Dimmick JE (1987) Pathology of renal and hepatic anomalies in Meckel syndrome. Am J Med Genet [Suppl 3]:395-410
5. Blyth H, Ockenden BG (1971) Polycystic disease in the kidneys and liver presenting in childhood. J Med Genet 8:257-284
6. Boichis H, Passwell J, David R, Miller H (1973) Congenital hepatic fibrosis and nephronophthisis. Q J Med 62:221-233
7. Brueton LA, Dillon MJ, Winter RM (1990) Ellis-van Creveld syndrome. Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? J Med Genet 27:252-255
8. Cobben JM, Breuning MH, Schools C, Ten Kate LP, Zerres K (1990) Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease. Kidney Int 38:880-885
9. Debray D, Pariente D, Urvoas E, Hadchouel M, Bernard O (1994) Sclerosing cholangitis in children. J Pediatr 124:49-56
10. Gagnadoux MF, Bacri JL, Broyer M, Habib R (1989) Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? Pediatr Nephrol 3:50-55
11. Harris HW, Carpenter TO, Shanley P, Rosen S, Levey RH, Harmon WE (1986) Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities. Am J Med 81:169-176
12. Leclerc JP, Canet J, Lancret P, Chelloul N, Le Bont H, Pesnel G, Fabre A, Alajouanine P (1971) Polykystose hépato-pancréato-épididymo-rénale et polydystrophie thoracique néonatale: Etude anatomo-clinique d'une observation. Arch Franc Pediatr 28:425-434
13. Lee Y-M, Kaplan MM (1995) Primary sclerosing cholangitis. N Engl J Med 332:924-933
14. Ludwig J, La Russo NF, Wiesner RH (1986) Primary sclerosing cholangitis. In: Peters RL, Craig JR (eds) Contemporary issues in surgical pathology: liver pathology. Churchill Livingstone, New York, pp 193-213
15. Martin SR, Garel L, Alvarez F (1996) Alagille's syndrome associated with cystic renal disease. Arch Dis Child 74:232-235
16. Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM (1982) The Meckel syndrome. Pathological and cytogenetic observations in eight cases. Hum Genet 62:240-245
17. Neuhaus TJ, Sennhauser F, Briner J, Van Damme B, Leumann EP (1996) Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure. Eur J Pediatr 155:791-795
18. Popovic-Rolovic M, Kostic M, Sindjic M, Jovanovic O, Peco-Antic A, Kruscic D (1993) Progressive tubulointerstitial nephritis and chronic cholestatic liver disease. Pediatr Nephrol 7:396-400
19. Proesmans W, Van Damme B, Desmet V, Eeckels R (1976) Fatal tubulo-interstitial nephropathy with chronic cholestatic liver disease. Acta Paediatr Belg 29:231-238
20. Proesmans W, Moerman P, Depraetere M, Van Damme B (1986) Association of bilateral renal dysplasia and congenital hepatic fibrosis. Int J Pediatr Nephrol 7:113-116
21. Quigley EMM, LaRusso NF, Ludwig J, MacSween RNM, Birnie GG, Watkinson G (1983) Familial occurrence of primary sclerosing cholangitis and ulcerative colitis. Gastroenterology 85:1160-1165
22. Record CO, Eddleston ALWF, Shilkin KB, Williams R (1973) Intrahepatic sclerosing cholangitis associated with a familial immunodeficiency syndrome. Lancet 11:18-20
23. Rushton HG, Belman AB (1994) Vesicoureteral reflux and renal scarring. In: Holliday MA, Barratt TM, Avner ED (eds) Pediatric nephrology. Williams and Wilkins, Baltimore, pp 963-986
24. Sisto A, Feldman P, Garel L, Seidman E, Brochu P, Morin CL, Weber AM, Roy CC (1987) Primary sclerosing cholangitis in children: Study of five cases and review of the literature. Pediatrics 80:918-923
25. Watkins SL, Avner ED (1994) Renal dysplasia and cystic disease. In: Holliday MA, Barratt TM, Avner ED (eds) Pediatric nephrology. Williams and Wilkins, Baltimore, pp 467-490
26. Witzleben CL, Sharp AR (1982) Nephronophthisis congenital hepatic fibrosis. Hum Pathol 13:728-733