eMedicine Specialties > Radiology > Genitourinary

Autosomal Recessive Polycystic Kidney Disease: Follow-up

Author: Ben Y Young, MD, Clinical Assistant Instructor, Staff Physician, Department of Radiology, Stony Brook University Hospital
Coauthor(s): Steven Perlmutter, MD, FACR, Associate Professor of Clinical Radiology, School of Medicine at Stony Brook University; Medical Director of Radiology, Peconic Bay Medical Center; Thomas H Smith, MD, Associate Professor, Departments of Radiology and Pediatrics, State University of New York at Stony Brook
Contributor Information and Disclosures

Updated: Apr 24, 2008

Intervention

Interventional radiology is not usually required in the management of autosomal recessive polycystic kidney disease .

Medicolegal Pitfalls

  • Obstetric ultrasonographic findings in ARPKD are not always demonstrable in the second trimester of pregnancy.
  • Sonographic examinations are highly operator dependent, and the findings, when demonstrated, may be nonspecific.
 


More on Autosomal Recessive Polycystic Kidney Disease

Overview: Autosomal Recessive Polycystic Kidney Disease
Imaging: Autosomal Recessive Polycystic Kidney Disease
Follow-up: Autosomal Recessive Polycystic Kidney Disease
Multimedia: Autosomal Recessive Polycystic Kidney Disease
References
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References

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  2. Williams SS, Cobo-Stark P, James LR, Somlo S, Igarashi P. Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. Pediatr Nephrol. May 2008;23(5):733-41. [Medline].

  3. Gigarel N, Frydman N, Burlet P, Kerbrat V, Tachdjian G, Fanchin R, et al. Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. Reprod Biomed Online. Jan 2008;16(1):152-8. [Medline].

  4. Gallagher AR, Esquivel EL, Briere TS, Tian X, Mitobe M, Menezes LF, et al. Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Am J Pathol. Feb 2008;172(2):417-29. [Medline].

  5. Yang J, Zhang S, Zhou Q, Guo H, Zhang K, Zheng R, et al. PKHD1 gene silencing may cause cell abnormal proliferation through modulation of intracellular calcium in autosomal recessive polycystic kidney disease. J Biochem Mol Biol. Jul 31 2007;40(4):467-74. [Medline].

  6. Igarashi P, Somlo S. Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol. Sep 2002;13(9):2384-98. [Medline].

  7. Lucaya J, Enriquez G, Nieto J, et al. Renal calcifications in patients with autosomal recessive polycystic kidney disease: prevalence and cause. AJR Am J Roentgenol. Feb 1993;160(2):359-62. [Medline].

  8. Eggli KD. Autosomal recessive polycystic kidney disease. In: Pollack HM, McClennan BL, eds. Clinical Urography. 2nd ed. 2000: 1316-32.

  9. Lonergan GJ, Rice RR, Suarez ES. Autosomal recessive polycystic kidney disease: radiologic-pathologiccorrelation. Radiographics. May-Jun 2000;20(3):837-55. [Medline].

  10. Zerres K, Hansmann M, Mallmann R, Gembruch U. Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenat Diagn. Mar 1988;8(3):215-29. [Medline].

  11. Jung G, Benz-Bohm G, Kugel H, et al. MR cholangiography in children with autosomal recessive polycystic kidneydisease. Pediatr Radiol. Jun 1999;29(6):463-6. [Medline].

  12. Kern S, Zimmerhackl LB, Hildebrandt F, Uhl M. Rare-MR-urography--a new diagnostic method in autosomal recessive polycystic kidney disease. Acta Radiol. Sep 1999;40(5):543-4. [Medline].

  13. Nasu K, Yoshimatsu J, Anai T, et al. Magnetic resonance imaging of fetal autosomal recessive polycystic kidney disease. J Obstet Gynaecol Res. Feb 1998;24(1):33-6. [Medline].

  14. Nishi T. Magnetic resonance imaging of autosomal recessive polycystic kidneydisease in utero. J Obstet Gynaecol. Oct 1995;21(5):471-4. [Medline].

  15. Sigmund G, Stover B, Zimmerhackl LB. Cystic diseases of the kidney in children: MRI including RARE-MR-urography. Eur Radiol. 1991;1:27.

  16. Nishi T, Iwasaki M, Yamoto M, Nakano R. Prenatal diagnosis of autosomal recessive polycystic kidney disease by ultrasonography and magnetic resonance imaging. Acta Obstet Gynecol Scand. 1991;70(7-8):615-7. [Medline].

  17. Avni FE, Guissard G, Hall M, et al. Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol. Mar 2002;32(3):169-74. [Medline].

  18. Blickman JG, Bramson RT, Herrin JT. Autosomal recessive polycystic kidney disease: long-term sonographic findings in patients surviving the neonatal period. AJR Am J Roentgenol. May 1995;164(5):1247-50. [Medline].

  19. Herman TE, Siegel MJ. Pyramidal hyperechogenicity in autosomal recessive polycystic kidney disease resembling medullary nephrocalcinosis. Pediatr Radiol. 1991;21(4):270-1. [Medline].

  20. Nicolau C, Torra R, Badenas C, et al. Sonographic pattern of recessive polycystic kidney disease in youngadults. Differences from the dominant form. Nephrol Dial Transplant. Sep 2000;15(9):1373-8. [Medline].

  21. Reuss A, Wladimiroff JW, Stewart PA, Niermeijer MF. Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease. Ultrasound Med Biol. 1990;16(4):355-9. [Medline].

  22. Slovis TL, Bernstein J, Gruskin A. Hyperechoic kidneys in the newborn and young infant. Pediatr Nephrol. Jun 1993;7(3):294-302. [Medline].

  23. Stein-Wexler R, Jain K. Sonography of macrocysts in infantile polycystic kidney disease. J Ultrasound Med. Jan 2003;22(1):105-7. [Medline].

  24. Zagar I, Anderson PJ, Gordon I. The value of radionuclide studies in children with autosomal recessive polycystic kidney disease. Clin Nucl Med. May 2002;27(5):339-44. [Medline].

  25. Wisser J, Hebisch G, Froster U, et al. Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimester. Prenat Diagn. Sep 1995;15(9):868-71. [Medline].

  26. Tracey KP, Jen H, Metcalfe JB, McEwan AJ. Autosomal recessive (infantile) polycystic kidney disease demonstrated byTc-99m DMSA renal imaging. Clin Nucl Med. Nov 1991;16(11):833-5. [Medline].

  27. Waters K, Howman-Giles R, Rossleigh M, et al. Intrahepatic bile duct dilatation and cholestasis in autosomal recessive polycystic kidney disease. Demonstration with hepatobiliary scintigraphy. Clin Nucl Med. Oct 1995;20(10):892-5. [Medline].

  28. Blyth H, Ockenden BG. Polycystic disease of kidney and liver presenting in childhood. J Med Genet. Sep 1971;8(3):257-84. [Medline].

  29. Ockenden BG, Blyth H. Polycystic disease of the liver and kidneys in childhood. Arch Dis Child. Feb 1970;45(239):148. [Medline].

  30. Blyth HM, Ockenden BG. A clinico-pathological and family study of polycystic disease of the kidneys and liver in children. J Clin Pathol. Jul 1969;22(4):508. [Medline].

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Further Reading

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Keywords

autosomal recessive polycystic kidney disease, ARPKD, PDK, infantile polycystic kidney disease, polycystic disease of the newborn, hamartomatous form of polycystic kidney disease, polycystic kidney disease, Potter type I, chromosome 6, PKHD1, perinatal ARPKD, neonatal ARPKD, infantile ARPKD, juvenile ARPKD

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Contributor Information and Disclosures

Author

Ben Y Young, MD, Clinical Assistant Instructor, Staff Physician, Department of Radiology, Stony Brook University Hospital
Ben Y Young, MD is a member of the following medical societies: American College of Radiology
Disclosure: Nothing to disclose.

Coauthor(s)

Steven Perlmutter, MD, FACR, Associate Professor of Clinical Radiology, School of Medicine at Stony Brook University; Medical Director of Radiology, Peconic Bay Medical Center
Steven Perlmutter, MD, FACR is a member of the following medical societies: American College of Radiology, American Institute of Ultrasound in Medicine, American Medical Association, American Roentgen Ray Society, Association of Program Directors in Radiology, Association of University Radiologists, Medical Society of the State of New York, Radiological Society of North America, Society of Breast Imaging, Society of Nuclear Medicine, and Society of Uroradiology
Disclosure: Nothing to disclose.

Thomas H Smith, MD, Associate Professor, Departments of Radiology and Pediatrics, State University of New York at Stony Brook
Thomas H Smith, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Radiology, American Medical Association, Radiological Society of North America, and Society for Pediatric Radiology
Disclosure: Nothing to disclose.

Medical Editor

John L Haddad, MD, Clinical Associate Professor, Department of Radiology, Weill Medical College of Cornell University; Director of Body MRI, Department of Radiology, Methodist Hospital in Houston
John L Haddad, MD is a member of the following medical societies: American College of Radiology, American Medical Association, and Radiological Society of North America
Disclosure: Nothing to disclose.

Pharmacy Editor

Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand
Disclosure: Nothing to disclose.

Managing Editor

Joshua A Becker, MD, Professor, Department of Radiology, New York University School of Medicine
Joshua A Becker, MD is a member of the following medical societies: Society of Uroradiology
Disclosure: Nothing to disclose.

CME Editor

Robert M Krasny, MD, Consulting Staff, Department of Radiology, The Angeles Clinic and Research Institute
Robert M Krasny, MD is a member of the following medical societies: American Roentgen Ray Society and Radiological Society of North America
Disclosure: Nothing to disclose.

Chief Editor

Eugene C Lin, MD, Consulting Radiologist, Virginia Mason Medical Center; Clinical Assistant Professor of Radiology, University of Washington School of Medicine
Eugene C Lin, MD is a member of the following medical societies: American College of Nuclear Medicine, American College of Radiology, Radiological Society of North America, and Society of Nuclear Medicine
Disclosure: Nothing to disclose.

 
 
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