Table 1 |.
Renal and extrarenal manifestations in ADPKD
| Manifestation | Prevalence | Comments | Refs |
|---|---|---|---|
| Renal | |||
| Urinary concentration defecta | Up to 60% of children | Earliest manifestation of mild polyuria is often undetected | 2,302 |
| Hypertensiona | • 50–70% of patients prior to GFR decline • Average age of onset is 30 years • At least 20–40% of children |
Screen children with family history of ADPKD from 5 years of age, then at 3-year intervals if negative for hypertension | 122,176 |
| ESRDa | 50% of patients by 60 years of age | Mean age of onset of 56 years (truncating PKD1 mutations), 68 years (non-truncating PKD1 mutations) or 78 years (PKD2 mutations) | 64 |
| Proteinuria (>300 mg/day) | Associated with GFR decline | Prognostic marker of ADPKD | 2 |
| Abdominal or flank pain | >60% of adult patients | • Acute or chronic • Multiple causes |
115 |
| Nephrolithiasis | 20–35% of adult patients | Uric acid and/or calcium oxalate stones | 2 |
| Cyst haemorrhage and/or gross haematuria | Up to 60% of adult patients | Most haemorrhages resolve within 2–7 days without intervention | 115 |
| Urinary tract infectiona | 30–50% of adult patients | More common in women than in men | 115 |
| Renal cell carcinoma | <1% of adult patients | Risk not increased compared with the general population, but patients can present with systemic symptoms of cancer | 68,219 |
| Extrarenal | |||
| Polycystic liver disease | >80% of patients by 30 years of age | Include liver imaging in initial visit; further follow-up dependent on result of imaging | 68 |
| ICA | • 8% of all adult patients • 21% of adult patients with a family history of ICA |
Screen if family history of subarachnoid haemorrhage or ICA, personal history of intracranial haemorrhage, individuals working in high-risk professions and before major elective surgery (including before transplantation) | 238 |
| Arachnoid cysts | 8% of adult patients | Possible increased risk of spontaneous subdural haematoma | 115 |
| Mitral valve prolapse or bicuspid aortic valve | Up to 25% of adult patients | Screen when there is a heart murmur or symptoms | 122 |
| Idiopathic dilated cardiomyopathy or left ventricular non-compaction | Rare | Screen when there is a family history of these conditions | 122 |
| Pericardial effusion | Up to 35% of adult patients | Screen if symptoms of pericardial effusion are present | 122 |
| Pancreatic cysts | 10% of adult patients | No screening needed | 115 |
| Diverticulosis | Up to 50% of patients with ESRD | Increased risk of diverticulum perforation following renal transplantation | 115 |
| Bronchiectasis | Up to 35–40% of adult patients | Mild; no screening needed | 115 |
| Congenital hepatic fibrosisa | Rare (on the basis of case reports) | No screening needed | 141,303 |
| Seminal vesicle cysts | Up to 40% of men | No correlation to semen abnormalities | 304 |
| Male infertility | Associated with ADPKD | Abnormal semen parameters reported | 304 |
ADPKD, autosomal dominant PKD; ESRD, end-stage renal disease; GFR, glomerular filtration rate; ICA, intracranial aneurysm.
a
Manifestations that are also present in patients with autosomal recessive polycystic kidney disease.