Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are characterized by bilateral cystic kidney disease leading to progressive kidney function decline. These diseases also have distinct liver manifestations. The range of clinical presentation and severity of both ADPKD and ARPKD is much wider than was once recognized. Pediatric and adult nephrologists are likely to care for individuals with both diseases in their lifetimes. This article will review genetic, clinical, and imaging predictors of kidney and liver disease progression in ADPKD and ARPKD and will briefly summarize pharmacologic therapies to prevent progression.

Keywords: Children; Outcomes; Polycystic kidney disease; Progression; Stage 5 chronic kidney disease.

Figure 1

Differences in kidney survival between individuals with PKD1 truncating mutations, PKD1 non-truncating mutations, and PKD2 mutations (figure reproduced from Cornec-Le Gall et al. [12], used with permission).

Figure 2

Mayo Clinic imaging classification to predict risk of GFR decline in patients with ADPKD. A. Subclassification of patients with typical (Class 1) ADPKD into subclasses 1A through 1E, based on baseline height-adjusted total kidney volume (HtTKV) for patient age; B. Predicted GFR slopes for males with ADPKD subclasses 1A through 1E (figure reproduced from Irazabal et al. [67], used with permission).

Figure 3

Kidney survival in individuals diagnosed with ARPKD in the perinatal period (age < 30 days) compared to those diagnosed after the perinatal period (figure reproduced from Gunay-Aygun et al. [108], used with permission).