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Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

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Abstract

ARPKD/CHF is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. ARPKD/CHF has a broad spectrum of clinical presentations involving the kidney and liver. Imaging plays an important role in the diagnosis and follow-up of ARPKD/CHF. Combined use of conventional and high-resolution US with MR cholangiography in ARPKD/CHF patients allows detailed definition of the extent of kidney and hepatobiliary manifestations without requiring ionizing radiation and contrast agents.

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References

  1. Zerres K, Mücher G, Becker J et al (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 76:137–144

    Article  PubMed  CAS  Google Scholar 

  2. Avner ED, Sweeney WE Jr (2006) Renal cystic disease: new insights for the clinician. Pediatr Clin North Am 53:889–909

    Article  PubMed  Google Scholar 

  3. Ward CJ, Hogan MC, Rossetti S et al (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30:259–269

    Article  PubMed  Google Scholar 

  4. Bergmann C, Senderek J, Sedlacek B et al (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol 14:76–89

    Article  PubMed  CAS  Google Scholar 

  5. Sumfest JM, Burns MW, Mitchell ME (1993) Aggressive surgical and medical management of autosomal recessive polycystic kidney disease. Urology 42:309–312

    Article  PubMed  CAS  Google Scholar 

  6. Traubici J, Daneman A (2005) High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR 184:1630–1633

    PubMed  Google Scholar 

  7. Lucaya J, Enriquez G, Nieto J et al (1993) Renal calcifications in patients with autosomal recessive polycystic kidney disease: prevalence and cause. AJR 160:359–362

    PubMed  CAS  Google Scholar 

  8. Liu YP, Cheng SJ, Shih SL et al (2006) Autosomal recessive polycystic kidney disease: appearance on fetal MRI. Pediatr Radiol 36:169

    Article  PubMed  Google Scholar 

  9. Goilav B, Norton KI, Satlin LM et al (2006) Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. Pediatr Transplant 10:294–298

    Article  PubMed  Google Scholar 

  10. Desmet VJ (1992) Congenital diseases of intrahepatic bile ducts: variations on the theme “ductal plate malformation”. Hepatology 16:1069–1083

    Article  PubMed  CAS  Google Scholar 

  11. Zeitoun D, Brancatelli G, Colombat M et al (2004) Congenital hepatic fibrosis: CT findings in 18 adults. Radiology 231:109–116

    Article  PubMed  Google Scholar 

  12. Pavone P, Laghi A, Catalano C et al (1996) Caroli’s disease: evaluation with MR cholangiopancreatography (MRCP). Abdom Imaging 21:117–119

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgements

We thank the ARPKD/CHF Alliance and all patients and their families who generously participated in this investigation. Supported by the intramural research programs of the National Human Genome Research Institute, National Cancer Institute, National Institute of Diabetes and Digestive and Kidney Diseases, and the National Institutes of Health Clinical Center.

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Author notes

  1. Iclal Ocak

    Present address: Department of Radiology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA

Authors and Affiliations

  1. Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

    Baris Turkbey, Iclal Ocak & Peter L. Choyke

  2. Clinical Center, Department of Radiology, National Institutes of Health, Bethesda, MD, USA

    Kailash Daryanani

  3. National Human Genome Research Institute, Medical Genetics Branch, National Institutes of Health, 10 Center Drive, Building 10, Bethesda, MD, 20892, USA

    Esperanza Font-Montgomery, Linda Lukose, Joy Bryant, Maya Tuchman, William A. Gahl & Meral Gunay-Aygun

  4. Department of Pediatric Gastroenterology, George Washington University, Washington, DC, USA

    Parvathi Mohan

  5. National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA

    Theo Heller

  6. Intramural Program, Office of Rare Diseases, Office of the Directors, National Institutes of Health, Bethesda, MD, USA

    Meral Gunay-Aygun

Authors
  1. Baris Turkbey
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  2. Iclal Ocak
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  4. Esperanza Font-Montgomery
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  5. Linda Lukose
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  7. Maya Tuchman
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  8. Parvathi Mohan
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  9. Theo Heller
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  10. William A. Gahl
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  11. Peter L. Choyke
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  12. Meral Gunay-Aygun
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Corresponding author

Correspondence to Meral Gunay-Aygun.

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Turkbey, B., Ocak, I., Daryanani, K. et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol 39, 100–111 (2009). https://doi.org/10.1007/s00247-008-1064-x

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  • DOI: https://doi.org/10.1007/s00247-008-1064-x

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