... Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney ...

... in individuals with heterozygous PKHD1 pathogenic variants (see Autosomal Dominant Polycystic Kidney Disease ). Differential Diagnosis Autosomal recessive polycystic kidney disease (ARPKD) belongs to ...

... Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Autosomal dominant tubulointerstitial kidney disease: Diagnosis, classification, and management- a KDIGO consensus report. Kidney ...

... Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney ...

... et al 2012 ]. Genetic disorders in the differential diagnosis of autosomal dominant polycystic kidney disease (ADPKD) are summarized in Table 5a ; acquired conditions ...

... Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney ...

... 2014] 1. Biallelic variants are associated with retinal disease. Differential Diagnosis The differential diagnosis of autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE) includes autosomal ...

... a heterozygous germline pathogenic variant in TRPV4 . Differential Diagnosis Autosomal Dominant TRPV4 Neuromuscular Disorders Autosomal dominant TRPV4 neuromuscular disorders (Charcot-Marie-Tooth disease type 2C, scapuloperoneal spinal muscular atrophy, and congenital ...

... heart disease. This condition is inherited in an autosomal dominant manner. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with 6q24- ...