Literature DB >> 19089418

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

Baris Turkbey1, Iclal Ocak, Kailash Daryanani, Esperanza Font-Montgomery, Linda Lukose, Joy Bryant, Maya Tuchman, Parvathi Mohan, Theo Heller, William A Gahl, Peter L Choyke, Meral Gunay-Aygun.   

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.

Entities:  

Mesh:

Year:  2008        PMID: 19089418      PMCID: PMC2918426          DOI: 10.1007/s00247-008-1064-x

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  12 in total

Review 1.  Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation".

Authors:  V J Desmet
Journal:  Hepatology       Date:  1992-10       Impact factor: 17.425

2.  Autosomal recessive polycystic kidney disease: appearance on fetal MRI.

Authors:  Yu-Peng Liu; Sho-Jen Cheng; Shin-Lin Shih; Jon-Kway Huang
Journal:  Pediatr Radiol       Date:  2005-11-08

3.  Caroli's disease: evaluation with MR cholangiopancreatography (MRCP).

Authors:  P Pavone; A Laghi; C Catalano; A Materia; N Basso; R Passariello
Journal:  Abdom Imaging       Date:  1996 Mar-Apr

4.  The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Authors:  Christopher J Ward; Marie C Hogan; Sandro Rossetti; Denise Walker; Tam Sneddon; Xiaofang Wang; Vicky Kubly; Julie M Cunningham; Robert Bacallao; Masahiko Ishibashi; Dawn S Milliner; Vicente E Torres; Peter C Harris
Journal:  Nat Genet       Date:  2002-02-04       Impact factor: 38.330

Review 5.  Renal cystic disease: new insights for the clinician.

Authors:  Ellis D Avner; William E Sweeney
Journal:  Pediatr Clin North Am       Date:  2006-10       Impact factor: 3.278

6.  Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

Authors:  K Zerres; G Mücher; J Becker; C Steinkamm; S Rudnik-Schöneborn; P Heikkilä; J Rapola; R Salonen; G G Germino; L Onuchic; S Somlo; E D Avner; L A Harman; J M Stockwin; L M Guay-Woodford
Journal:  Am J Med Genet       Date:  1998-03-05

7.  Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association.

Authors:  Beatrice Goilav; Karen I Norton; Lisa M Satlin; Lisa Guay-Woodford; Frank Chen; Margret S Magid; Sukru Emre; Benjamin L Shneider
Journal:  Pediatr Transplant       Date:  2006-05

8.  High-resolution renal sonography in children with autosomal recessive polycystic kidney disease.

Authors:  Jeffrey Traubici; Alan Daneman
Journal:  AJR Am J Roentgenol       Date:  2005-05       Impact factor: 3.959

9.  Congenital hepatic fibrosis: CT findings in 18 adults.

Authors:  Delphine Zeitoun; Giuseppe Brancatelli; Magali Colombat; Michael P Federle; Dominique Valla; Tong Wu; Claude Degott; Valérie Vilgrain
Journal:  Radiology       Date:  2004-02-27       Impact factor: 11.105

10.  Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Authors:  Carsten Bergmann; Jan Senderek; Beate Sedlacek; Ioannis Pegiazoglou; Patricia Puglia; Thomas Eggermann; Sabine Rudnik-Schöneborn; Laszlo Furu; Luiz F Onuchic; Monica De Baca; Gregory G Germino; Lisa Guay-Woodford; Stefan Somlo; Markus Moser; Reinhard Büttner; Klaus Zerres
Journal:  J Am Soc Nephrol       Date:  2003-01       Impact factor: 10.121

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  33 in total

1.  Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection.

Authors:  Sebastian Kummer; Abdurrahman Sagir; Simone Pandey; Markus Feldkötter; Sandra Habbig; Friederike Körber; Dietrich Ney; Bernd Hoppe; Dieter Häussinger; Ertan Mayatepek; Jun Oh
Journal:  Pediatr Nephrol       Date:  2011-02-01       Impact factor: 3.714

Review 2.  Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.

Authors:  Arvind Srinath; Benjamin L Shneider
Journal:  J Pediatr Gastroenterol Nutr       Date:  2012-05       Impact factor: 2.839

3.  Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Authors:  Tamás Szabó; Petronella Orosz; Eszter Balogh; Eszter Jávorszky; István Máttyus; Csaba Bereczki; Zoltán Maróti; Tibor Kalmár; Attila J Szabó; George Reusz; Ildikó Várkonyi; Erzsébet Marián; Éva Gombos; Orsolya Orosz; László Madar; György Balla; János Kappelmayer; Kálmán Tory; István Balogh
Journal:  Pediatr Nephrol       Date:  2018-06-28       Impact factor: 3.714

Review 4.  Diagnosis and management of childhood polycystic kidney disease.

Authors:  William E Sweeney; Ellis D Avner
Journal:  Pediatr Nephrol       Date:  2010-10-29       Impact factor: 3.714

5.  Pleuropulmonary blastoma in a child with autosomal-recessive polycystic kidney disease.

Authors:  Jeffrey Traubici; Gino R Somers; Simon C Ling; Rachel J Pearl; Paul C Nathan
Journal:  Pediatr Radiol       Date:  2011-07-01

Review 6.  New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications.

Authors:  Grzegorz Telega; David Cronin; Ellis D Avner
Journal:  Pediatr Transplant       Date:  2013-04-17

Review 7.  Paediatric chronic liver diseases: how to investigate and follow up? Role of imaging in the diagnosis of fibrosis.

Authors:  Danièle Pariente; Stéphanie Franchi-Abella
Journal:  Pediatr Radiol       Date:  2010-04-30

Review 8.  Renal cystic diseases in children: new concepts.

Authors:  Fred E Avni; Michelle Hall
Journal:  Pediatr Radiol       Date:  2010-04-30

9.  Pediatric cystic diseases of the kidney.

Authors:  Federica Ferro; Norberto Vezzali; Evi Comploj; Elena Pedron; Marco Di Serafino; Francesco Esposito; Piernicola Pelliccia; Eugenio Rossi; Massimo Zeccolini; Gianfranco Vallone
Journal:  J Ultrasound       Date:  2019-01-01

10.  Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.

Authors:  Anna Strongin; Theo Heller; Dan Doherty; Ian A Glass; Melissa A Parisi; Joy Bryant; Peter Choyke; Baris Turkbey; Kailash Daryanani; Deniz Yildirimli; Meghana Vemulapalli; Jim C Mullikin; May C Malicdan; Thierry Vilboux; William A Gahl; Meral Gunay-Aygun
Journal:  J Pediatr Gastroenterol Nutr       Date:  2018-03       Impact factor: 2.839

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