Literature DB >> 33552631

Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges.

Dorota Wicher1, Łukasz Obrycki2, Irena Jankowska3.   

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). Clinical features also include growth failure and neurocognitive impairment. Plurality of clinical aspects requires multidisciplinary approach to treatment and care of patients. Until recently, diagnosis was based on clinical criteria. Results of genetic testing show the molecular basis of polycystic kidneys disease is heterogeneous, and differential diagnosis is essential. The aim of the article is to discuss the role of genetic testing and its difficulties in diagnostics of ARPKD in children. Thieme. All rights reserved.

Entities:  

Keywords:  autosomal recessive polycystic kidney disease; congenital hepatic fibrosis; next-generation sequencing

Year:  2020        PMID： 33552631      PMCID： PMC7853919          DOI： 10.1055/s-0040-1714701

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  57 in total

Review 1.  Hypertension in autosomal dominant polycystic kidney disease.

Authors:  A B Chapman; P A Gabow
Journal:  Kidney Int Suppl       Date:  1997-10       Impact factor: 10.545

2.  Polycystic kidney disease: DZIP1L defines a new functional zip code for autosomal recessive PKD.

Authors:  Erum A Hartung; Lisa M Guay-Woodford
Journal:  Nat Rev Nephrol       Date:  2017-07-24       Impact factor: 28.314

3.  Ruptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association.

Authors:  Imed Helal; Insaf Handous; Meriam Khadhar; Hamida Bezzine; Fethi Ben Hamida; Taib Ben Abdallah
Journal:  Saudi J Kidney Dis Transpl       Date:  2019 Jul-Aug

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

5.  Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Authors:  Oscar Rubio Cabezas; Sarah E Flanagan; Horia Stanescu; Elena García-Martínez; Richard Caswell; Hana Lango-Allen; Montserrat Antón-Gamero; Jesús Argente; Anna-Marie Bussell; Andre Brandli; Chris Cheshire; Elizabeth Crowne; Simona Dumitriu; Robert Drynda; Julian P Hamilton-Shield; Wesley Hayes; Alexis Hofherr; Daniela Iancu; Naomi Issler; Craig Jefferies; Peter Jones; Matthew Johnson; Anne Kesselheim; Enriko Klootwijk; Michael Koettgen; Wendy Lewis; José María Martos; Monika Mozere; Jill Norman; Vaksha Patel; Andrew Parrish; Celia Pérez-Cerdá; Jesús Pozo; Sofia A Rahman; Neil Sebire; Mehmet Tekman; Peter D Turnpenny; William Van't Hoff; Daan H H M Viering; Michael N Weedon; Patricia Wilson; Lisa Guay-Woodford; Robert Kleta; Khalid Hussain; Sian Ellard; Detlef Bockenhauer
Journal:  J Am Soc Nephrol       Date:  2017-04-03       Impact factor: 10.121

6.  Clinical aspects of autosomal recessive polycystic kidney disease.

Authors:  Natasha Favoretto Dias; Vivian Lanzarini; Luiz Fernando Onuchic; Vera Hermina Kalika Koch
Journal:  J Bras Nefrol       Date:  2010 Jul-Sep

7.  Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.

Authors:  Kathrin Burgmaier; Kevin Kunzmann; Gema Ariceta; Carsten Bergmann; Anja Katrin Buescher; Mathias Burgmaier; Ismail Dursun; Ali Duzova; Loai Eid; Florian Erger; Markus Feldkoetter; Matthias Galiano; Michaela Geßner; Heike Goebel; Ibrahim Gokce; Dieter Haffner; Nakysa Hooman; Bernd Hoppe; Augustina Jankauskiene; Guenter Klaus; Jens König; Mieczyslaw Litwin; Laura Massella; Djalila Mekahli; Engin Melek; Sevgi Mir; Lars Pape; Larisa Prikhodina; Bruno Ranchin; Raphael Schild; Tomas Seeman; Lale Sever; Rukshana Shroff; Neveen A Soliman; Stella Stabouli; Malgorzata Stanczyk; Yilmaz Tabel; Katarzyna Taranta-Janusz; Sara Testa; Julia Thumfart; Rezan Topaloglu; Lutz Thorsten Weber; Dorota Wicher; Elke Wühl; Simone Wygoda; Alev Yilmaz; Katarzyna Zachwieja; Ilona Zagozdzon; Klaus Zerres; Jörg Dötsch; Franz Schaefer; Max Christoph Liebau
Journal:  J Pediatr       Date:  2018-05-09       Impact factor: 4.406

Review 8.  Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.

Authors:  Sandro Rossetti; Peter C Harris
Journal:  J Am Soc Nephrol       Date:  2007-04-11       Impact factor: 10.121

9.  Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice.

Authors:  Kathrin Burgmaier; Joy Brandt; Rukshana Shroff; Peter Witters; Lutz T Weber; Jörg Dötsch; Franz Schaefer; Djalila Mekahli; Max C Liebau
Journal:  Front Pediatr       Date:  2018-06-04       Impact factor: 3.418

10.  Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal recessive polycystic kidney disease.

Authors:  William E Sweeney; Philip Frost; Ellis D Avner
Journal:  World J Nephrol       Date:  2017-07-06
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