Literature DB >> 23814685

Autosomal recessive polycystic kidney disease: antenatal diagnosis and histopathological correlation.

Dayananda Kumar Rajanna1, Anjani Reddy, Naren Satya Srinivas, Ankur Aneja.   

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common inheritable disease manifesting in infancy and childhood with a frequency of 1:6,000 to 1:55,000 births. The patient in her second trimester presented with a history of amenorrhea. Ultrasound examination revealed bilateral, enlarged, hyperechogenic kidneys, placentomegaly, and severe oligohydramnios. The pregnancy was terminated. An autopsy was performed on the fetus. Both the kidneys were found to be enlarged and the cut surface showed numerous cysts. The liver sections showed changes due to fibrosis. The final diagnosis of autosomal recessive polycystic kidney disease was made based on these findings. In this article, we correlate the ante-natal ultrasound and histopathological findings in autosomal recessive polycystic kidney disease.

Entities:  

Keywords:  Antenatal; autosomal recessive polycystic kidney disease; hepatic fibrosis; placentomegaly

Year:  2013        PMID: 23814685      PMCID: PMC3690676          DOI: 10.4103/2156-7514.109733

Source DB:  PubMed          Journal:  J Clin Imaging Sci        ISSN: 2156-5597


  15 in total

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Authors:  Peter Igarashi; Stefan Somlo
Journal:  J Am Soc Nephrol       Date:  2002-09       Impact factor: 10.121

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3.  Pediatric end-stage renal disease. United States Renal Data System.

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Journal:  Am J Kidney Dis       Date:  1998-08       Impact factor: 8.860

Review 4.  Autosomal recessive polycystic kidney disease.

Authors:  K Zerres; J Becker; G Mücher; S Rudnik-Schöneborn
Journal:  Contrib Nephrol       Date:  1997       Impact factor: 1.580

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Authors:  H Blyth; B G Ockenden
Journal:  J Med Genet       Date:  1971-09       Impact factor: 6.318

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
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Review 7.  Obstetric US: watch the fetal hands.

Authors:  Françoise Rypens; Josée Dubois; Laurent Garel; Jean-Christophe Fournet; Jacques L Michaud; Andrée Grignon
Journal:  Radiographics       Date:  2006 May-Jun       Impact factor: 5.333

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.  PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Authors:  Luiz F Onuchic; Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik-Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner; Klaus Zerres; Lisa M Guay-Woodford; Stefan Somlo; Gregory G Germino
Journal:  Am J Hum Genet       Date:  2002-03-15       Impact factor: 11.025

Review 10.  The spectrum of polycystic kidney disease in children.

Authors:  Katherine MacRae Dell
Journal:  Adv Chronic Kidney Dis       Date:  2011-09       Impact factor: 3.620

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  3 in total

1.  Autosomal recessive polycystic kidney disease.

Authors:  Sajad Ahmad Salati
Journal:  J Neonatal Surg       Date:  2014-04-01

Review 2.  Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease.

Authors:  Stephen R Hooper
Journal:  Front Pediatr       Date:  2017-05-15       Impact factor: 3.418

3.  Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing.

Authors:  Masoud Heidari; Hamid Gharshasbi; Alireza Isazadeh; Morteza Soleyman-Nejad; Mohammad Hossein Taskhiri; Javad Shapouri; Manzar Bolhassani; Nahid Sadighi; Mansour Heidari
Journal:  Curr Genomics       Date:  2021-10-18       Impact factor: 2.236

  3 in total

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