What condition presents with multiple cysts in the liver and kidneys in an elderly female?

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

The condition presenting with multiple cysts in both the liver and kidneys in an elderly female is Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most common inherited kidney disorder with a prevalence of approximately 1 per 1000 in the general population. 1, 2

Disease Characteristics

ADPKD is characterized by bilateral kidney cysts that progressively enlarge and replace normal kidney tissue, with polycystic liver disease (PLD) being the most frequent extrarenal manifestation. 1, 3 In elderly females specifically, this presentation is particularly characteristic because:

• Liver cysts are present in >80% of ADPKD patients by age 30 years, with cysts being more common and liver volumes greater in women, increasing with age. 1, 4
• Women demonstrate more severe polycystic liver disease compared to men, with liver and cyst volumes being significantly greater in female patients. 4
• In older patients (≥50 years), 44% have documented liver cysts, and most patients develop symptoms after age 40 years. 5

Genetic Basis and Phenotypic Variants

The major causative genes are PKD1 (approximately 48% of screened families with truncating variants, 19% with nontruncating variants) and PKD2 (approximately 15% of screened families). 1 The genetic variant influences disease severity:

• PKD2 mutations result in milder and later kidney enlargement, with chronic kidney disease stage 3 around age 55 years and kidney failure in the 70s—making this particularly relevant for elderly presentations. 1
• Several minor genes (ALG9, GANAB, DNAJB11) are specifically associated with frequent or sometimes severe liver cysts alongside kidney manifestations. 1

Clinical Manifestations in Elderly Patients

In the elderly female population, the clinical presentation includes:

• Hypertension (69% of symptomatic older patients), back and abdominal pain (47%), symptoms consistent with urinary tract infection (41%), and hematuria (31%). 5
• Hepatomegaly is common even in early-stage ADPKD and is not accounted for by cysts alone—parenchymal volumes are larger compared to patients without ADPKD. 4
• Notably, 31% of older patients with ADPKD maintain normal serum creatinine levels, meaning well-preserved kidney function does not exclude the diagnosis. 5
• Kidney failure occurs in 47% of older symptomatic patients, though the timeline varies significantly based on genetic variant. 5

Diagnostic Approach

For elderly patients with incidentally detected kidney and liver cysts:

• Abdominal ultrasound is the recommended first-line imaging modality for screening. 1, 2
• For patients aged ≥60 years with positive family history, ≥4 cysts in each kidney confirms the diagnosis. 1, 2
• When family history is unknown or imaging is equivocal, kidney MRI should be performed (>10 total cysts confirms diagnosis, <5 cysts rules it out for ages 16-40 years). 1
• Genetic testing is particularly helpful when there are few kidney cysts, discordant imaging and kidney function, or negative family history. 1

Important Caveats

A critical pitfall is assuming that older subjects with bilateral renal cysts and well-preserved kidney function do not have ADPKD—they should be considered to have the disease even with normal creatinine, which has important implications for prognosis and genetic counseling of relatives. 5

The severity of polycystic liver disease is associated with altered biochemical and hematologic features (splenomegaly and hypersplenism), as well as reduced quality of life, requiring comprehensive assessment beyond just imaging findings. 4

While isolated autosomal dominant polycystic liver disease (ADPLD) exists as a separate entity linked to PRKCSH and SEC63 genes with no or few kidney cysts, the presence of multiple cysts in both organs strongly favors ADPKD over isolated ADPLD. 1