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The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD).
- Source :
-
Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2022 Apr 01; Vol. 1868 (4), pp. 166348. Date of Electronic Publication: 2022 Jan 12. - Publication Year :
- 2022
-
Abstract
- ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of cystic kidneys and liver fibrosis. It shows a range of severity, with 30% of individuals dying early on and the majority having good prognosis if they survive the first year of life. The reasons for this variability remain unclear. Two genes have been shown to cause ARPKD when mutated, PKHD1, mutations in which lead to most of ARPKD cases and DZIP1L, which is associated with moderate ARPKD. This mini review will explore the genetics of ARPKD and discuss potential genetic modifiers and phenocopies that could affect diagnosis.<br /> (Crown Copyright © 2022. Published by Elsevier B.V. All rights reserved.)
- Subjects :
- Adaptor Proteins, Signal Transducing genetics
Animals
Humans
Polycystic Kidney, Autosomal Recessive genetics
Polymorphism, Genetic
Prognosis
Receptors, Cell Surface genetics
Signal Transduction genetics
Transcription Factors deficiency
Transcription Factors genetics
Polycystic Kidney, Autosomal Recessive pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1879-260X
- Volume :
- 1868
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Biochimica et biophysica acta. Molecular basis of disease
- Publication Type :
- Academic Journal
- Accession number :
- 35032595
- Full Text :
- https://doi.org/10.1016/j.bbadis.2022.166348