Polycystic liver disease genes: Practical considerations for genetic testing.

Cysts / diagnosis Genetic Loci Genetic Testing / methods Humans Liver Diseases / diagnosis Practice Guidelines as Topic
ADPLD Clinical value Genetic testing Polycystic liver

Journal

European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089

Informations de publication

Date de publication:
Mar 2021
Historique:
received: 25 11 2020
revised: 26 01 2021
accepted: 31 01 2021
pubmed: 9 2 2021
medline: 6 7 2021
entrez: 8 2 2021
Statut: ppublish

Résumé

The development of a polycystic liver is a characteristic of the monogenic disorders: autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic liver disease (ADPLD). Respectively two and one genes mainly cause ADPKD and ARPKD. In contrast, ADPLD is caused by at least six different genes which combined do not even explain the disease development in over half of the ADPLD population. Genetic testing is mainly performed to confirm the likelihood of developing PKD and if renal therapy is essential. However, pure ADPLD patients are frequently not genetically screened as knowledge about the genotype-phenotype correlation is currently limited. This paper will clarify the essence of genetic testing in ADPLD patients.

Identifiants

DOI: 10.1016/j.ejmg.2021.104160 PMID: 33556586
pubmed: 33556586
pii: S1769-7212(21)00026-4
doi: 10.1016/j.ejmg.2021.104160
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

104160

Informations de copyright

Copyright © 2021 The Author(s). Published by Elsevier Masson SAS.. All rights reserved.

Auteurs

Melissa M Boerrigter (MM)

Department of Gastroenterology and Hepatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

Ernie M H F Bongers (EMHF)

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

Dorien Lugtenberg (D)

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

Frederik Nevens (F)

Department of Gastroenterology and Hepatology, University Hospitals KU Leuven, Leuven, Belgium.

Joost P H Drenth (JPH)

Department of Gastroenterology and Hepatology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: joostphdrenth@cs.com.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › États, signes et symptômes pathologiques › États anatomopathologiques › Kystes › Polycystic liver disease genes: Practical...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Locus génétiques › Polycystic liver disease genes: Practical...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Polycystic liver disease genes: Practical...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Polycystic liver disease genes: Practical...
questionsmedicales.fr › Maladies de l'appareil digestif › Maladies du foie › Polycystic liver disease genes: Practical...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Assurance de la qualité des soins de santé › Recommandations comme sujet › Guides de bonnes pratiques cliniques comme sujet › Polycystic liver disease genes: Practical...