Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited kidney disorder, characterized by the progressive growth of fluid-filled cysts within the kidneys. Affecting approximately 1 in 500 to 1,000 individuals worldwide, ADPKD often leads to end-stage renal disease (ESRD) by mid to late adulthood. With increased understanding of its molecular pathogenesis, the disease is transitioning from symptomatic management toward early intervention and targeted therapy.

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Pathogenesis: Cysts Beyond the Kidneys
ADPKD results primarily from mutations in PKD1 or PKD2, which encode polycystin-1 and polycystin-2, proteins vital to normal kidney tubule structure and function. These mutations disrupt calcium signaling and cAMP regulation, causing abnormal cell proliferation and fluid secretion into cysts. Over time, cysts expand and compress healthy nephrons, reducing kidney function.

While renal manifestations are dominant, ADPKD is a systemic disorder that may also involve:
* Liver cysts
* Intracranial aneurysms
* Mitral valve prolapse
* Colonic diverticula
* Abdominal wall hernias
* Clinical Presentation and Diagnosis

Symptoms of ADPKD typically emerge between the third and fifth decades of life, though cysts may be detected in asymptomatic carriers much earlier.

Common clinical features include:
Flank or abdominal pain
Hematuria (blood in urine)
Recurrent urinary tract infections
Nephrolithiasis (kidney stones)
Progressive hypertension

Diagnosis relies on imaging, with ultrasound being the first-line tool. MRI and CT scans provide more detailed cyst counts and volume assessments, particularly for prognostication. Genetic testing confirms diagnosis and aids in family counseling.

Disease Progression and Risk Stratification
A major advancement in ADPKD care is the use of total kidney volume (TKV) as a biomarker for disease progression. The Mayo Imaging Classification helps stratify patients into rapid vs. slow progressors, guiding the timing and aggressiveness of interventions.

Other risk factors for rapid progression include:
Early-onset hypertension
Male sex
PKD1 mutations
Gross hematuria
Enlarged kidneys before age 30

Therapeutic Landscape: From Supportive Care to Targeted Intervention
Historically, ADPKD management was limited to treating symptoms—such as blood pressure control, pain relief, and delaying renal replacement therapy. However, the approval of tolvaptan, a selective vasopressin V2 receptor antagonist, marked the first disease-modifying therapy for ADPKD.

Supportive management includes:
Strict blood pressure control (target <110/75 mmHg if tolerated)
High water intake (to suppress vasopressin)
Avoidance of nephrotoxic agents
Treatment of UTIs and stones promptly

Advancing Therapies and Research Pipeline
With growing interest in modifying the course of ADPKD, several novel agents are in clinical development:
mTOR inhibitors: initially promising, now limited by side effects and inconsistent efficacy
Somatostatin analogs: being investigated for polycystic liver disease
GLP-1 receptor agonists and SGLT2 inhibitors: explored for renal and metabolic benefits

Gene therapy: in early exploratory stages, aiming to correct underlying genetic defects
These therapies seek not only to slow kidney deterioration but to address extra-renal complications more effectively.

Multidisciplinary and Long-Term Management
Given its systemic nature, ADPKD management requires a multidisciplinary approach involving nephrologists, hepatologists, neurologists, and genetic counselors.

Key components of long-term care include:
Annual renal imaging and lab monitoring
Screening for cerebral aneurysms in high-risk individuals
Genetic testing and counseling for family planning
Patient education on hydration, salt intake, and monitoring symptoms
Early identification and risk-based intervention can delay dialysis or transplantation, significantly improving quality of life.

Living with ADPKD: Patient-Centered Perspectives
While ADPKD can lead to ESRD, many patients maintain stable kidney function for decades with appropriate monitoring and lifestyle adjustments. Empowering patients through education and access to specialized care is crucial to managing disease burden. Support groups, mobile health apps, and shared decision-making tools are increasingly important for patient engagement.

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Outlook: Toward Precision Nephrology
The management of ADPKD is undergoing a paradigm shift—from reactive, symptom-based care to proactive, risk-based strategies. With the advent of tolvaptan and ongoing drug development, patients now have access to therapies that can meaningfully.

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