Are there any renal tubular disorders that coexist with Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

From the Guidelines

Yes, there are renal tubular disorders that coexist with Autosomal Dominant Polycystic Kidney Disease (ADPKD), and these disorders can be similar to those found in Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD). According to the KDIGO consensus report 1, ADTKD is a term used to describe a group of diseases caused by mutations in different genes, and it is recognized that these diseases can have similar clinical manifestations and morphology to ADPKD.

Key Points

• The term ADTKD is recommended to describe these diseases, as it reflects the genetic cause and inheritance pattern, and it allows definition of cases as ‘suspected’ on clinical grounds 1.
• ADTKD can be subclassified based on the underlying genetic defect, and the affected gene, if identified, should be included in the disease term 1.
• Renal tubular disorders that coexist with ADPKD can include hyperuricemia and gout, defects in urinary concentration ability, renal magnesium wasting, renal tubular acidosis, and hypocalciuria, similar to those found in ADTKD 1.
• Early recognition of these tubular manifestations can help in the diagnosis of ADPKD before advanced kidney disease develops.

Renal Tubular Disorders

• Hyperuricemia and gout are common renal tubular abnormalities associated with ADPKD, particularly in patients with mutations in the UMOD gene and the REN gene 1.
• Defects in urinary concentration ability can lead to polyuria and polydipsia in patients with ADPKD 1.
• Renal magnesium wasting, renal tubular acidosis, and hypocalciuria can occur in patients with ADPKD, particularly those with mutations in the HNF1B gene 1.

From the Research

Renal Tubular Disorders Coexisting with ADPKD

There is no direct evidence in the provided studies that specifically addresses renal tubular disorders coexisting with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

ADPKD Characteristics and Progression

• ADPKD is a slowly progressing cystic kidney disorder that evolves into end-stage renal disease in the majority of patients 2.
• By the age of 65 years, 45% to 70% of patients with ADPKD reach end-stage renal disease (ESRD) 3.
• The rate of progression can be assessed by clinical, biological, or radiological criteria, including the "predicting renal outcome in polycystic kidney disease score" (PROPKD-Score) 4.
• Age at diagnosis after 30 years, baseline serum creatinine levels, and cyst infection are independent risk factors for kidney failure in ADPKD patients 3.

Management and Treatment of ADPKD

• Currently, there are no established treatments to retard the progression of ADPKD, but several promising therapeutic options are being tested in ongoing clinical trials 2.
• Vasopressin-2 receptor antagonists, such as tolvaptan, appear to slow down the growth of renal cysts and the slope of GFR decline 4, 5.
• The current management of ADPKD patients is mostly based on correcting the risk factors for progression, including encouraging hydration, normalizing blood pressure, and stimulating smoking cessation 4.
• Other medications, such as Tesevatinib, Metformin, and Pravastatin, are being studied in clinical trials to slow the rate of progression of ADPKD 5.