Abstract
Renal dysplasia has been reported in association with a number of anatomical abnormalities, including pancreatic dysgenesis and hepatic anomalies. The combination of renal, hepatic, and pancreatic dysplasia (RHPD), also known as Ivemark syndrome, is rare and uniformly fatal. We report here the gross and histological findings in 4 cases of combined RHPD, 2 of which were detected by prenatal ultrasonography. Evaluation of these 4 and the other 20 reported cases shows that combined RHPD has considerable variability in the histological findings and in organ involvement. In addition, nearly half were associated with anomalies in other organ systems, and 11 of the 24 were familial. In this study, ultrasonographic and histological abnormalities were seen as early as 18.5 weeks gestation in 1 case.
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References
Ivemark BI, Oldfelt V, Zetterstrom R (1959) Familial dysplasia of kidneys, liver, and pancreas. A probably genetically determined syndrome. Acta Paediatr 48: 1–11
Strayer DS, Kissane JM (1979) Dysplasia of the kidneys, liver, and pancreas: report of a variant of Ivemark's syndrome. Hum Pathol 10: 228–234
Crawfurd M d'A (1978) Renal dysplasia and asplenia in two sibs. Clin Genet 14: 338–344
Bernstein J, Chandra M, Creswell J, Kahn E, Malouf NN, McVicar M, Weinberg AG, Wybel RE (1987) Renal-hepatic-pancreatic dysplasia: syndrome reconsidered. Am J Med Genet 26: 391–403
Carles D, Serville F, Dubecq JP, Gonnet JM (1988) Renal, pancreatic and hepatic dysplasia sequence. Eur J Pediatr 147: 431–432
Yeoh GPS, Bannatyne PM, Russell P, Storey B (1985) Combined renal and pancreatic dysplasia in the newborn. Pathology 17: 653–657
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
Hiraoka K, Haratake J, Horie A, Miyagawa T (1988) Bilateral renal dysplasia, pancreatic fibrosis, intrahepatic biliary dysgenesis, and situs inversus totalis in a boy. Hum Pathol 19: 871–873
Lurie IW, Kirillova I, Novikova IV, Burakovski IV (1991) Renal-hepatic-pancreatic dysplasia and its variants. Genet Couns 2: 17–20
Lieberman E, Salinas-Madrigal L, Gwinn JL, Brennan LP, Fine RN, Landing BH (1971) Infantile polycystic disease of the kidneys and liver. Medicine (Baltimore) 50: 277–318
Mirejovsky P, Kapras J (1977) Syndrome multicysticke dysplasie ledvin, slinivky and jater smnchocetnymi malformacemi. Cesk Patol 13: 86–90
Yoshikawa Y, Watanabe T, Nobuyoshi K (1981) Bilateral renal dysplasia accompanied by pancreatic fibrosis, meconium ileus, and situs inversus totalis. Acta Pathol Jpn 31: 845–852
Bernstein J (1986) Hepatic and renal involvement in malformation syndromes. Mt Sinai J Med (NY) 53: 421–428
Blair JD (1976) Trisomy C and cystic dyplasia of kidneys, liver, and pancreas. Birth Defects 12: 139–140
Quinn CM, Kelly DG, Cahalane SF (1988) Renal dysplasia: a clinicopathological review. Br J Urol 61: 399–401
McGeoh JEM, Darmady EM (1975) Polycystic disease of kidney, liver, and pancreas. A possible pathogenesis. J Pathol 119: 221–228
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Larson, R.S., Rudloff, M.A., Liapis, H. et al. The ivemark syndrome: prenatal diagnosis of an uncommon cystic renal lesion with heterogeneous associations. Pediatr Nephrol 9, 594–598 (1995). https://doi.org/10.1007/BF00860945
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DOI: https://doi.org/10.1007/BF00860945