ADPKD

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease, affecting 1 in 1,000 Caucasians. Two disease loci have been identified, PKD1 and PKD2, which code for polycystin-1 and polycystin-2 respectively

The screening investigation for relatives is abdominal ultrasound:

Ultrasound diagnostic criteria (in patients with positive family history)

• two cysts, unilateral or bilateral, if aged < 30 years
• two cysts in both kidneys if aged 30-59 years
• four cysts in both kidneys if aged > 60 years

Management

For select patients, tolvaptan (vasopressin receptor 2 antagonist) may be an option. NICE recommended it as an option for treating ADPKD in adults to slow the progression of cyst development and renal insufficiency only if:

• they have chronic kidney disease stage 2 or 3 at the start of treatment
• there is evidence of rapidly progressing disease and
• the company provides it with the discount agreed in the patient access scheme.

Extensive cysts are seen in an enlarged kidney