TY - JOUR
T1 - Polycystic liver disease genes
T2 - Practical considerations for genetic testing
AU - Boerrigter, Melissa M.
AU - Bongers, Ernie M. H. F.
AU - Lugtenberg, Dorien
AU - Nevens, Frederik
AU - Drenth, Joost P. H.
PY - 2021/3/1
Y1 - 2021/3/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85100808308&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/33556586
U2 - https://doi.org/10.1016/j.ejmg.2021.104160
DO - https://doi.org/10.1016/j.ejmg.2021.104160
M3 - Review article
C2 - 33556586
SN - 1769-7212
VL - 64
JO - European journal of medical genetics
JF - European journal of medical genetics
IS - 3
M1 - 104160
ER -