History and exam

Key diagnostic factors

FHx of autosomal-dominant PKD (ADPKD) or ESRD

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. The family history may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before the onset of symptoms, or late-onset disease in the affected parent. The incidence of de novo mutations is significant in ADPKD, occurring in about 10% of affected families.

Family history of ADPKD should prompt earlier hypertension screening.

FHx of cerebrovascular event

There is a clear association between autosomal-dominant PKD (ADPKD) and a family history of intracranial aneurysm or subarachnoid hemorrhage.

Intracranial aneurysms occur in 6% of patients without a family history of aneurysms and in 16% of those with a family history. Most tend to be in the anterior cerebral circulation and are small. [39]

renal cysts

Seen on imaging studies and diagnostic in patients with positive family history.

Multiple bilateral cysts (>10 per kidney) prompt presumptive diagnosis in patients without family history in absence of other manifestations suggestive of a different renal cystic disease.

Kidneys progressively enlarge and become distorted with little recognizable parenchyma on imaging studies and when renal function drops below 60 mL/min/1.7m^2. The average rate of decline of renal function is 4.4 to 5.9 mL/min/year.

Mutated gene PKD1 versus PKD2, position of the PKD1 mutation, and modifier genes determine clinical course.

Other unfavorable clinical factors are onset of hematuria before age 30, onset of hypertension before 35 years of age, hyperlipidemia, black race, low HDL, and sickle cell trait.

hypertension

Common presenting symptom. Hypertension will affect nearly all patients and is often present before renal function abnormalities.

Often presents at a relatively young age. Detection of hypertension before any of the other clinical manifestations is often how the disease is first detected in patients 20 to 34 years of age. [9]

Can often occur in the absence of abnormal renal function or abnormal urinalysis. [9]

Additionally, hypertension in autosomal-dominant PKD (ADPKD) patients is associated with a high incidence of LVH, leading to increased cardiovascular morbidity and mortality, which is also the leading cause of death in this patient group. [59]

abdominal/flank pain

Common presenting symptom.

Underlying cause sought, including nephrolithiasis, infection, or hemorrhage. UTIs 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 diverticulitis is more common, especially in ESRD patients with autosomal-dominant PKD (ADPKD).

hematuria

Both microscopic and macroscopic hematuria is common.

History of gross hematuria is associated with worse renal function at a given age. [54]

palpable kidneys/abdominal mass

Abdominal examination often reveals a palpable renal or hepatic mass. [6] [7] [8]

Highly suggestive of autosomal-dominant PKD (ADPKD) in the setting of an appropriate family history or confirmatory imaging.

headaches

May be symptom of cerebrovascular event.

Atypical or new onset of headaches or a change in the character of the headaches should be investigated.

dysuria, urgency, suprapubic pain, fever

In their lifetime, 50% to 75% of all patients will experience at least 1 clinical UTI, with the majority occurring in women.

Urinary tract instrumentation with a bladder catheter or cystoscope is a frequent precipitating factor. [60]

UTIs involving the renal parenchyma or cysts typically present with fever.

Other diagnostic factors

cardiac murmur

Mitral valve prolapse, mitral regurgitation, aortic regurgitation, and dilated aortic root are the most common cardiac abnormalities.

abdominal hernia or rectus abdominus diastasis

Inguinal, incisional, and paraumbilical hernias, and rectus abdominus diastasis, are common presentations.

Usually present with a visible swelling and are detected before the renal disease is detected.

hepatomegaly

Polycystic liver disease is typically asymptomatic. Abdominal examination often reveals a palpable hepatic mass. [6] [7] [8] Highly suggestive of autosomal-dominant PKD (ADPKD) if positive family history and confirmatory imaging.

Frequency increases with age.

More prevalent, and liver cyst volume is larger in women than in men. Women who have had multiple pregnancies, have used contraceptive drugs, or were using estrogen replacement therapy have worse disease. Estrogen receptors are expressed in the epithelial lining of hepatic cysts and stimulate hepatic cyst cell proliferation.

Significant symptoms or complications from liver involvement can occur in up to 20% of cases.

More patients are living long enough to experience symptoms from polycystic liver disease due to more effective treatment of renal disease. Heartburn, GERD, early satiety, nausea, increased abdominal girth, or dyspnea may occur in patients due to hepatic enlargement.

chest pain

Chest pain may be a disease complication with different etiologies.

Risk factors

FHx of ADPKD

Obtaining a family history is a simple and inexpensive way to identify people who might be at risk for autosomal-dominant PKD (ADPKD), and thus lead to an earlier diagnosis. The family history may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before the onset of symptoms, or late-onset disease in the affected parent. The incidence of de novo mutations is significant in ADPKD, occurring in about 10% of affected families.

Family history of ADPKD should prompt earlier hypertension screening.

FHx of cerebrovascular event

Intracranial aneurysms occur in 6% of patients with autosomal-dominant PKD (ADPKD) without a family history of aneurysms, and in 16% of those with a family history. [39]

Indications for screening in patients with good lifespan expectancy include family history of aneurysm or subarachnoid hemorrhage, previous aneurysm rupture, preparation for major elective surgery, patient anxiety, and high-risk occupations (e.g., pilots, crane operators).

Widespread screening is not recommended because it yields small aneurysms with a low risk of rupture.

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