History and exam
Key diagnostic factors
common
family history of autosomal-dominant PKD (ADPKD) or end-stage renal disease
The diagnosis is considered to be confirmed if there is a family history of disease in a first-degree relative and imaging criteria are met.[42] The family history may appear to be negative due to missing parental medical records, mild disease from hypomorphic PKD1 mutations (failure to recognise the disorder or late-onset disease in the affected parent), early death of the parent before the onset of symptoms, de novo mutations, or germline or somatic mosaicism.[16][20] The incidence of de novo mutations is significant in ADPKD, occurring in about 10% to 15% of affected families.[1]
Family history of ADPKD should prompt earlier hypertension screening.
family history of cerebrovascular event
There is a clear association between autosomal-dominant PKD (ADPKD) and a family history of intracranial aneurysm or subarachnoid haemorrhage (SAH).
Intracranial aneurysms occur in 6% of patients with ADPKD without a family history of aneurysm or SAH and in 16% of those with a family history.[34] Most tend to be in the anterior cerebral circulation and are small.
renal cysts
Seen on imaging studies and diagnostic in patients with positive family history.
In patients with a negative family history, imaging-based diagnosis is not sufficient because criteria were developed in individuals who had a 50% risk of autosomal-dominant PKD.[4] Multiple bilateral cysts (>10 per kidney) prompt likely diagnosis in patients without family history in absence of other manifestations suggestive of a different renal cystic disease; however, genetic testing is indicated to establish the diagnosis.[1][11]
hypertension
Common presenting symptom.[4] Hypertension will affect nearly all patients and is often present before renal function abnormalities.[1]
Often presents at a relatively young age with an average age of onset of between 30 to 34 years.[7] Detection of hypertension before any of the other clinical manifestations is often how the disease is first detected in young patients.[1]
Additionally, hypertension in autosomal-dominant PKD patients is associated with a high incidence of left ventricular hypertrophy, leading to increased cardiovascular morbidity and mortality, which is also the leading cause of death in this patient group.[55]
abdominal/flank pain
Common presenting symptom.[4]
Underlying cause sought, including nephrolithiasis, infection, or haemorrhage.[1] Urinary tract infections involving the renal parenchyma or cysts typically present with flank pain.
May also be caused by hepatic enlargement.
Chronic pain may be due to traction on kidney pedicle.
Colonic diverticulosis is common and development of complications, such as diverticulitis is more likely, especially in patients with end-stage renal disease with autosomal-dominant PKD.[38]
haematuria
Both microscopic and macroscopic haematuria is common.
History of gross haematuria is associated with worse renal function at a given age.[56]
palpable kidneys/abdominal mass
Abdominal examination often reveals palpable kidneys.
Kidneys become massively enlarged and may be associated with significant morbidity from the additional mass and weight.[39]
headaches
dysuria, suprapubic pain, fever
Urinary tract infections (UTIs) occur in 30% to 50% of adult patients with PKD, with the majority occurring in women.[1]
UTIs involving the renal parenchyma or cysts typically present with fever.
Other diagnostic factors
common
cardiac murmur
Mitral valve prolapse, mitral regurgitation, aortic regurgitation, and dilated aortic root are the most common cardiac abnormalities.[1]
abdominal hernia
hepatomegaly
Polycystic liver disease is present in over 90% of individuals with autosomal-dominant PKD aged older than 35 years and frequency increases with age.[4][38][37]
More prevalent, and liver cyst volume is larger in women than in men.[37] Women who have had multiple pregnancies, have used contraceptive drugs, or were using oestrogen replacement therapy have worse disease.[38] Oestrogen receptors are expressed in the epithelial lining of hepatic cysts and stimulate hepatic cyst cell proliferation.[37]
Significant symptoms or complications from liver involvement can occur in up to 20% of cases.[37]
More patients are living long enough to experience symptoms from polycystic liver disease due to more effective treatment of renal disease. Heartburn, GORD, early satiety, nausea, increased abdominal girth, or dyspnoea may occur in patients due to hepatic enlargement.[37]
uncommon
chest pain
Chest pain may be a disease complication with different aetiologies.
Risk factors
strong
family history of autosomal-dominant PKD (ADPKD)
Obtaining a family history is a simple and inexpensive way to identify people who might be at risk for ADPKD, and thus lead to an earlier diagnosis. The family history may appear to be negative due to missing parental medical records, mild disease from hypomorphic PKD1 mutations (failure to recognise the disorder or late-onset disease in the affected parent), early death of the parent before the onset of symptoms, de novo mutations, or germline or somatic mosaicism.[16][20] The incidence of de novo mutations is significant in ADPKD, occurring in about 10% to 15% of affected families.[1]
Family history of ADPKD should prompt earlier hypertension screening.
family history of cerebrovascular event
Intracranial aneurysms occur in 6% of patients with ADPKD without a family history of aneurysms, and in 16% of those with a family history.[34]
Indications for screening in patients with good life-span expectancy include family history of aneurysm or subarachnoid haemorrhage, previous aneurysm rupture, preparation for major elective surgery, patient anxiety, and high-risk occupations (e.g., pilots, crane operators).[31]
Widespread screening is not recommended because it yields small aneurysms with a low risk of rupture.[31]
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