Featured Publications
Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.
Besse W, Roosendaal C, Tuccillo L, Roy SG, Gallagher AR, Somlo S. Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease. Kidney360 2020, 1: 1068-1076. PMID: 33554127, PMCID: PMC7861569, DOI: 10.34067/kid.0002522020.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCystsFemaleLiver DiseasesMicePolycystic Kidney, Autosomal RecessiveReceptors, Cell SurfaceConceptsAutosomal recessive polycystic kidney diseaseSomatic second-hit mutationsAutosomal dominant polycystic kidney diseaseSecond-hit mutationsPolycystic liver diseaseLiver phenotypePolycystic kidney diseaseBile duct homeostasisSecond hit mutationLiver cystsLiver diseaseKidney diseaseCyst formationGenetic interactionsPattern of inheritanceDisease genesRecessive polycystic kidney diseaseGermline inheritanceDominant polycystic kidney diseaseDuctal plate formationWeeks of ageRecessive genotypeSubset of adultsSomatic mutationsPlate format
2023
Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management
Hanna C, Iliuta I, Besse W, Mekahli D, Chebib F. Cystic Kidney Diseases in Children and Adults: Differences and Gaps in Clinical Management. Seminars In Nephrology 2023, 43: 151434. PMID: 37996359, DOI: 10.1016/j.semnephrol.2023.151434.Peer-Reviewed Original ResearchMeSH KeywordsAdultChildCystsFemaleHumansKidneyKidney NeoplasmsPolycystic Kidney, Autosomal DominantPolycystic Kidney, Autosomal RecessivePregnancyConceptsCystic kidney diseaseKidney diseaseAutosomal dominant polycystic kidney diseaseAutosomal-dominant polycystic kidney diseasePolycystic kidney diseaseClinical managementDifferential diagnosisProgressive autosomal dominant polycystic kidney diseaseWide differential diagnosisKidney cystsV2 receptor antagonistKidney cystic diseaseDiagnosis of inherited disordersNext-generation sequencingRadiologic characteristicsKidney functionExtrarenal manifestationsFuture pregnanciesUnderlying conditionCystic diseaseLikely diagnosisFamily historyExtrarenal featuresPediatric diagnosesRecurrence risk