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

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

... medullary cysts and enlarged kidneys are present, consider autosomal dominant polycystic kidney disease (ADPKD). If the number of cysts is fewer than required for a diagnosis of ADPKD, the family history suggests autosomal dominant ...

... Lindau syndrome , autosomal recessive polycystic kidney disease , and autosomal dominant polycystic kidney disease (see Table 3 ). Ciliary body medulloepithelioma In children, the clinical differential diagnosis of a mass in the ciliary body includes ...

... Table 3. Genes of Interest in the Differential Diagnosis of Renal Cysts View in own window Gene Disorder MOI Clinical Characteristics PKD1 PDK2 1 Autosomal dominant polycystic kidney disease AD Multiple bilateral kidney cysts; cysts in other ...

... or duration of HD) AND no QOL or symptom measures in dialysis patients 1899. Simms RJ, Thong KM, Dworschak GC, et al. Increased psychosocial burden and adverse quality of life in autosomal dominant polycystic kidney disease. Nephrology Dialysis Transplantation. 2015;30:iii190. doi: 10. ...

... of the kidney and urinary tract (CAKUT), and polycystic kidney disease [ Braun et al ... diagnosis of NPH-RC, see Table 2 . Table 2. ...