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Understanding Autosomal Dominant Polycystic Kidney Disease (ADPKD)

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Dr. Pratik Tripathi, HOD, Dept. of Nephrology, Fortis Escorts Hospital, Jaipur    28 January 2025

 

ADPKD is the most common inherited cause of chronic kidney disease (CKD), accounting for 5%-10% of end-stage renal disease (ESRD) cases. In India, its prevalence is approximately one in 1,000, equally affecting males and females. ADPKD is inherited in an autosomal dominant manner, with Type 1 (PKD1) mutations on chromosome 16 in 85% of cases and Type 2 (PKD2) mutations on chromosome 4 in 15%. Symptoms typically arise in adulthood.

Symptoms

Early Signs: Hematuria, mechanical back pain, urinary infections, hypertension.

Late Signs: Decline in GFR, proteinuria, abdominal pain, renal failure, cystic hemorrhage, UTIs, and potential for renal cell carcinoma.

Complications
ADPKD may also lead to extra-renal issues such as hepatic and pancreatic cysts, cardiovascular diseases, and cerebral aneurysms.

Risk Factors
Family history, epigenetics, and environmental factors contribute to ADPKD risk.

Pathogenesis
ADPKD is characterized by cystic proliferation, increased secretion of vasopressin, and aberrant cell cycle progression, leading to significant metabolic reprogramming.

Diagnosis
Diagnosis relies on imaging techniques:

Ultrasound: Detects cysts >1 cm.

MRI: Most sensitive; detects cysts ≥2 mm.

CT Scan: Detects cysts ≥2 mm.

Screening: Recommended for first-degree relatives after age 18.

Management
While no definitive cure exists, management focuses on slowing progression through:

Strict blood pressure control (ACE inhibitors, ARBs)

Low-sodium and protein-restricted diets

Adequate hydration and lifestyle modifications

Pain management and potential use of tolvaptan.

Prognosis
ADPKD can progress to renal failure, with early intervention critical for better outcomes. Regular screening and individualized management strategies are essential to improve patient quality of life.

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