Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Imaging Casebook
  • Published:

Imaging Case Book

Neonatal autosomal recessive polycystic kidney disease

Journal of Perinatology volume 28, pages 584–585 (2008)Cite this article

Bilateral massive nephromegaly is present with echogenic kidneys, radially arranged dilated tubules and ‘string of pearl’ configuration of small subcapsular cysts. This is a typical appearance of autosomal recessive polycystic kidney disease.1 Ultrasonographic evaluation of the liver in this patient was normal. This entity, which is now referred to as autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD-CHF),2 is characterized by cysts originating from the proximal tubules in continuity with the nephrons. This pathologic feature was first recognized by Osathanodh and Potter in 1964.1 The liver disease is due to abnormal formation of the bile duct plates leading to biliary dysgenesis and periportal fibrosis. ARPKD-CHF is currently believed to be caused by a single gene, as patients with widely varying degrees of severity have shown linkage to the same gene locus 6p21. This gene has been termed as PKHD1 (polycystic kidney and hepatic disease, gene 1). The protein that is encoded by this gene is called fibrocystin and is involved in collecting tubule and biliary duct formation, although the exact function is not known.3

There are two essential features of ARPKD-CHF; renal and hepatic disease.4 Currently it is recognized that ARPDK-CHF encompasses a varied spectrum of renal and liver disease. The previous division by Blythe and Ockenden into perinatal, neonatal, infantile and juvenile types is therefore rarely used now.4 However, it is true that the most severe renal disease is usually found in youngest patients, and the most severe liver disease in the older, surviving patients. The mortality of perinatal and neonatal disease is very high, only 50% of patients with ARPKD-CHF survive the neonatal period.3 Infants were severe renal involvement in utero will have oligohydramnios-induced pulmonary hypoplasia and often die in the immediate postnatal period.3 If the patient survives the neonatal period, renal involvement leads to renal insufficiency, renal concentrating defects and hypertension.1 The renal disease; however, is not as predictably progressive as is the hepatic disease.4 The renal and hepatic diseases are more or less inverse in severity, thus those with severe renal disease may not manifest hepatic disease, or only mild disease, and those with severe hepatic disease manifest often only mild renal disease.3 All patients with ARPKD-CHF have liver disease at least pathologically. Congenital hepatic fibrosis can occur in other disease including Meckel Gruber syndrome, COACH syndrome, tuberous sclerosis and occasionally autosomal dominant polycystic kidney disease.3 Portal hypertension is the major complication of congenital hepatic fibrosis. Occasionally, biliary dysgenesis is associated with marked cystic dilatation of the bile ducts, or Caroli's syndrome, which is associated with risk of recurrent cholangitis. Portal hypertension with variceal bleeding, cholangitis and hepatic insufficiency are the most common problems associated with the hepatic component of the disease.2

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1

References

  1. Traubici J, Daneman A . High resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR Am J Roentgenol 2004; 184: 1630–1633.

    Article  Google Scholar 

  2. Gunay-Aygun M, Avner ED, Bacallao RL, Choyke PL, Flynn JT, Germino GG et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first national institutes of health/office of rare diseases conference. J Pediatr 2006; 149: 159–164.

    Article  Google Scholar 

  3. Ward CJ, Hogan MCD, Rossetti S, Walker D, Sneddon T, Wang X et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large receptor-like protein. Nat Genet 2002; 30: 259–269.

    Article  Google Scholar 

  4. Lonergan GJ, Rice RR, Suarez ES . Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation. Radiographics 2000; 20: 837–855.

    Article  CAS  Google Scholar 

  5. Avni FE, Guissard G, Hall M, Janssen F, DeMaertelaer V, Rypens F . Hereditary polycystic kidney disease in children: changing sonographic patterns through childhood. Pediatr Radiol 2002; 32: 169–174.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Radiology, St Louis Children's Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

Authors
  1. T E Herman
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M J Siegel
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to T E Herman.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Herman, T., Siegel, M. Neonatal autosomal recessive polycystic kidney disease. J Perinatol 28, 584–585 (2008). https://doi.org/10.1038/jp.2008.40

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2008.40

Search

Advanced search

Quick links