Diagnosis & Testing

Diagnostic Criteria

ADPKD diagnóstico relies primarily on imaging estudios combined with antecedentes familiares. For pacientes with a positive antecedentes familiares, age-specific quiste count criteria are applied — bilateral riñóns must show multiple quistes as defined by the Pei-Ravine or KDIGO 2025 criteria. For those without a antecedentes familiares, more quistes are required and other causes of bilateral quisteic enfermedad renal must be excluded.

• Imaging (ecografía, CT, or MRI): Age-specific thresholds for quiste count; quistes must be bilateral. The 2025 KDIGO guía provides updated criteria accounting for typical vs. atypical imaging patterns.
• Family history: A first-degree relative with ADPKD significantly lowers the imaging threshold for diagnóstico.
• Genetic testing: Used when imaging is equivocal, antecedentes familiares is absent, or for reproductive planning.

Key Indicators

ADPKD pacientes need to monitor many more indicators than those listed below. In addition to traditional función renal and imaging markers, cyestatina C, electrolytes, parathyroid hormona (PTH), iron metabolism, hígado function, coagulation, lipids, and urinario albumin all matter at different disease estadios.

eGFR (Estimated Glomerular Filtration Rate)

The core indicator for assessing función renal. Normal value is ≥ 90 mL/min/1.73m². In early ADPKD, eGFR may remain normal for years before gradually declining. Recheck every 3–6 months as recommended by your doctor. Multiple equations exist for calculating eGFR (the 2021 CKD-EPI creatinina equation, cyestatina C equation, and combined creatinina–cyestatina C equation). For the meaning of each parameter and applicable boundaries, see eGFR detailed explanation.

TKV (Total Kidney Volume)

Measured by MRI or ecografía, TKV is a key indicator for assessing quiste burden and disease progresión rate. Rapid TKV growth indicates high riesgo and is a core parameter in the Mayo Imaging Classification and RAAP estratificación de riesgo. Typically measured annually. Note: it is the rate of TKV growth and classification category — not absolute volume alone — that matters for riesgo assessment.

Serum Creatinine

A traditional función renal marker used to calculate eGFR. It is affected by muscle mass, age, and sex, so it is less accurate than eGFR when interpreted alone. For measurement methods (Jaffe vs. enzymatic), influencing factors, and seguridad guidance for acute elevations, see serum creatinina detailed explanation.

UPCR (Urine Protein-to-Creatinine Ratio)

Assesses urinario proteína excreción. Normal is < 150 mg/g; ADPKD patients should aim to keep UPCR below 500. Proteinuria is a marker of disease progression and an important target for blood pressure management with ACE inhibitors or ARBs.

Blood Pressure

Target presión arterial for ADPKD pacientes is < 130/80 mmHg. Home measurement and trend recording are recommended — bring your records to appointments for your doctor's reference.

Genetic Testing

Genetic testing can identify mutacións in PKD1 (accounting for ~78% of cases) or PKD2 (~15%). It is particularly valuable when antecedentes familiares is unclear, imaging is atypical, or for reproductive planning. Approximately 10% of pacientes have no identifiable mutación in known gens, which may involve other gens (e.g., GANAB, DNAJB11) or complex variants.

• When indicated: equivocal imaging, no antecedentes familiares, atypical presentation, reproductive planning, or when results may change management (e.g., tolvaptán eligibility).
• Counseling needed: Results should be interpreted with a gentic counselor. Findings may affect reproductive decisions and family communication.

Risk Stratification

Risk stratification helps predict how quickly ADPKD may progress and guides tratamiento intensity. Two main tools are used:

• Mayo Imaging Classification: Based on height-adjusted TKV and age, pacientes are classified into typical (1A–1E) or atypical categories. Higher classes (1C–1E) indicate faster progresión.
• RAAP (Risk of ADPKD Progression): Combines TKV, age, and genotype (PKD1 truncating vs. non-truncating vs. PKD2) to classify pacientes as low, intermediate, or high riesgo — helping clinicians decide whether to initiate disease-modifying therapy such as tolvaptán.
• Rapid progresión definition: Generally defined as eGFR decline exceeding expected age-related loss, or TKV growth rate placing the paciente in a high-riesgo Mayo class. Early identification enables timely intervention.

Monitoring Frequency by Stage

Monitoring intensity should adapt to disease estadio and riesgo profile. The following is a genral framework — your nefrólogo will personalize the schedule:

• CKD Stage 1–2 (eGFR ≥ 60): eGFR every 6–12 months; presión arterial every 3–6 months (home monitoreo encouraged); TKV annually for estratificación de riesgo; UPCR annually or with síntomas.
• CKD Stage 3a–3b (eGFR 30–59): eGFR every 3–6 months; presión arterial every 3 months; TKV annually if rapid progresión suspected; UPCR every 6–12 months; monitor electrolytes, PTH, and hemoglobina.
• CKD Stage 4 (eGFR 15–29): eGFR every 2–3 months; presión arterial every 3 months; add electrolytes, acid–base, hemoglobina, iron estudios, PTH every 3–6 months; prepare for terapia de reemplazo renal planning.
• CKD Stage 5 (eGFR < 15): eGFR every 1–2 months; comprehensive metabolic and hematologic panel every 1–3 months; coordinate with trasplante/diálisis team.

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