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. 1996 May;33(5):409–412. doi: 10.1136/jmg.33.5.409

Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

R Torra 1, L Alós 1, J Ramos 1, X Estivill 1
PMCID: PMC1050612  PMID: 8733053

Abstract

We report two brothers with a cystic malformation of the kidneys, liver, and pancreas. In both cases the malformation was fatal and the children died shortly after birth. The pathological findings, consisting of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, dilated pancreatic ducts, and polysplenia, correspond to those reported by Ivemark as renal-hepatic-pancreatic dysplasia. Many polymalformation syndromes include cystic affectation of these three organs, so this syndrome could be an isolated entity or a final common pathway of response of these organs to a variety of developmental disturbances, which could also include splenic abnormalities. We propose an autosomal recessive pattern of inheritance for renal-hepatic-pancreatic dysplasia.

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Selected References

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  1. BOWEN P., LEE C. S., ZELLWEGER H., LINDENBERG R. A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS. Bull Johns Hopkins Hosp. 1964 Jun;114:402–414. [PubMed] [Google Scholar]
  2. Bernstein J., Chandra M., Creswell J., Kahn E., Malouf N. N., McVicar M., Weinberg A. G., Wybel R. E. Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. Am J Med Genet. 1987 Feb;26(2):391–403. doi: 10.1002/ajmg.1320260218. [DOI] [PubMed] [Google Scholar]
  3. Brook-Carter P. T., Peral B., Ward C. J., Thompson P., Hughes J., Maheshwar M. M., Nellist M., Gamble V., Harris P. C., Sampson J. R. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet. 1994 Dec;8(4):328–332. doi: 10.1038/ng1294-328. [DOI] [PubMed] [Google Scholar]
  4. Burn T. C., Connors T. D., Dackowski W. R., Petry L. R., Van Raay T. J., Millholland J. M., Venet M., Miller G., Hakim R. M., Landes G. M. Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium). Hum Mol Genet. 1995 Apr;4(4):575–582. doi: 10.1093/hmg/4.4.575. [DOI] [PubMed] [Google Scholar]
  5. Carles D., Serville F., Dubecq J. P., Gonnet J. M. Renal, pancreatic and hepatic dysplasia sequence. Eur J Pediatr. 1988 May;147(4):431–432. doi: 10.1007/BF00496429. [DOI] [PubMed] [Google Scholar]
  6. Crawfurd M. D. Renal dysplasia and asplenia in two sibs. Clin Genet. 1978 Dec;14(6):338–344. doi: 10.1111/j.1399-0004.1978.tb02099.x. [DOI] [PubMed] [Google Scholar]
  7. Daoust M. C., Reynolds D. M., Bichet D. G., Somlo S. Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics. 1995 Feb 10;25(3):733–736. doi: 10.1016/0888-7543(95)80020-m. [DOI] [PubMed] [Google Scholar]
  8. Gloeb D. J., Valdes-Dapena M., Salman F., O'Sullivan M. J., Quetel T. A. The Goldston syndrome: report of a case. Pediatr Pathol. 1989;9(3):337–343. doi: 10.3109/15513818909037738. [DOI] [PubMed] [Google Scholar]
  9. Goodman S. I., Markey S. P., Moe P. G., Miles B. S., Teng C. C. Glutaric aciduria; a "new" disorder of amino acid metabolism. Biochem Med. 1975 Jan;12(1):12–21. doi: 10.1016/0006-2944(75)90091-5. [DOI] [PubMed] [Google Scholar]
  10. Guay-Woodford L. M., Muecher G., Hopkins S. D., Avner E. D., Germino G. G., Guillot A. P., Herrin J., Holleman R., Irons D. A., Primack W. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Am J Hum Genet. 1995 May;56(5):1101–1107. [PMC free article] [PubMed] [Google Scholar]
  11. Hsia Y. E., Bratu M., Herbordt A. Genetics of the Meckel syndrome (dysencephalia splanchnocystica). Pediatrics. 1971 Aug;48(2):237–247. [PubMed] [Google Scholar]
  12. Hunter A. G., Jimenez C., Tawagi F. G. Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? Am J Med Genet. 1991 Nov 1;41(2):201–207. doi: 10.1002/ajmg.1320410214. [DOI] [PubMed] [Google Scholar]
  13. IVEMARK B. I., OLDFELT V., ZETTERSTROM R. Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome. Acta Paediatr. 1959 Jan;48(1):1–11. doi: 10.1111/j.1651-2227.1959.tb16011.x. [DOI] [PubMed] [Google Scholar]
  14. JEUNE M., BERAUD C., CARRON R. Dystrophie thoracique asphyxiante de caractère familial. Arch Fr Pediatr. 1955;12(8):886–891. [PubMed] [Google Scholar]
  15. Kimberling W. J., Kumar S., Gabow P. A., Kenyon J. B., Connolly C. J., Somlo S. Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics. 1993 Dec;18(3):467–472. doi: 10.1016/s0888-7543(11)80001-7. [DOI] [PubMed] [Google Scholar]
  16. Kudo M., Tamura K., Fuse Y. Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases. Am J Clin Pathol. 1985 Oct;84(4):459–463. doi: 10.1093/ajcp/84.4.459. [DOI] [PubMed] [Google Scholar]
  17. Leclerc J. P., Canet J., Lancret P., Chelloul N., Le Bont H., Pesnel G., Fabre A., Alajouanine P. Polykystose hépato-pancréato-épididymo-rénale et polydystrophie thoracique néo-natales. Etude anatomo-clinique d'une observation. Arch Fr Pediatr. 1971 Apr;28(4):425–434. [PubMed] [Google Scholar]
  18. Parfrey P. S., Bear J. C., Morgan J., Cramer B. C., McManamon P. J., Gault M. H., Churchill D. N., Singh M., Hewitt R., Somlo S. The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med. 1990 Oct 18;323(16):1085–1090. doi: 10.1056/NEJM199010183231601. [DOI] [PubMed] [Google Scholar]
  19. Peral B., Gamble V., San Millán J. L., Strong C., Sloane-Stanley J., Moreno F., Harris P. C. Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion. Hum Mol Genet. 1995 Apr;4(4):569–574. doi: 10.1093/hmg/4.4.569. [DOI] [PubMed] [Google Scholar]
  20. Peters D. J., Spruit L., Saris J. J., Ravine D., Sandkuijl L. A., Fossdal R., Boersma J., van Eijk R., Nørby S., Constantinou-Deltas C. D. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet. 1993 Dec;5(4):359–362. doi: 10.1038/ng1293-359. [DOI] [PubMed] [Google Scholar]
  21. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium. Cell. 1995 Apr 21;81(2):289–298. doi: 10.1016/0092-8674(95)90339-9. [DOI] [PubMed] [Google Scholar]
  22. Ravine D., Walker R. G., Gibson R. N., Forrest S. M., Richards R. I., Friend K., Sheffield L. J., Kincaid-Smith P., Danks D. M. Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet. 1992 Nov 28;340(8831):1330–1333. doi: 10.1016/0140-6736(92)92503-8. [DOI] [PubMed] [Google Scholar]
  23. Reeders S. T., Breuning M. H., Davies K. E., Nicholls R. D., Jarman A. P., Higgs D. R., Pearson P. L., Weatherall D. J. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature. 1985 Oct 10;317(6037):542–544. doi: 10.1038/317542a0. [DOI] [PubMed] [Google Scholar]
  24. Saldino R. M., Noonan C. D. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Am J Roentgenol Radium Ther Nucl Med. 1972 Feb;114(2):257–263. doi: 10.2214/ajr.114.2.257. [DOI] [PubMed] [Google Scholar]
  25. Strayer D. S., Kissane J. M. Dysplasia of the kidneys, liver, and pancreas: report of a variant of Ivemark's syndrome. Hum Pathol. 1979 Mar;10(2):228–234. doi: 10.1016/s0046-8177(79)80011-8. [DOI] [PubMed] [Google Scholar]
  26. Turco A. E., Rossetti S., Bresin E., Corra S., Gammaro L., Maschio G., Pignatti P. F. A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. Hum Mol Genet. 1995 Aug;4(8):1331–1335. doi: 10.1093/hmg/4.8.1331. [DOI] [PubMed] [Google Scholar]
  27. Zerres K., Mücher G., Bachner L., Deschennes G., Eggermann T., Käriäinen H., Knapp M., Lennert T., Misselwitz J., von Mühlendahl K. E. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994 Jul;7(3):429–432. doi: 10.1038/ng0794-429. [DOI] [PubMed] [Google Scholar]

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