2024
Autosomal Dominant Polycystic Kidney Disease
Suarez M, Titan S, Dahl N. Autosomal Dominant Polycystic Kidney Disease. Advances In Kidney Disease And Health 2024, 31: 496-503. PMID: 39577883, DOI: 10.1053/j.akdh.2024.07.003.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseDelivery of personalized treatmentKidney diseaseKidney failureMinority of patientsDominant polycystic kidney diseaseEnd-stage kidney diseaseRisk of kidney failureCause of end-stage kidney diseasePolycystic kidney diseaseBlood pressure managementMassive hepatomegalySevere complicationsPolycystic liverIntracranial aneurysmsPersonalized treatmentNatural historyOrgan systemsDiseaseTreatmentKidneyPressure managementLiverSystem conditionsPreimplantation
2016
Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis
Vichot AA, Zsengellér ZK, Shmukler BE, Adams ND, Dahl NK, Alper SL. Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosis. Clinical Kidney Journal 2016, 10: 135-140. PMID: 28638614, PMCID: PMC5469557, DOI: 10.1093/ckj/sfw074.Peer-Reviewed Original ResearchDistal renal tubular acidosisRenal tubular acidosisTubular acidosisHuman kidneyEnd-stage kidneysAlpha-intercalated cellsCultured epithelial monolayersKidney tissueAcidosisPatient tissuesKidneyKidney isoformExchanger 1Missense mutationsEpithelial monolayersHeterologous expression systemPredominant absenceTissueAnion exchanger 1