Hi, help us enhance your experience
Hi, help us enhance your experience
Hi, help us enhance your experience
373 Views
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.
{{Article_Title}}
{{Article_Author}}
{{Article_Title}}
{{Article_Author}}