Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder affecting the kidney with a prevalence of around 1 in 500-2000 people. The natural progression of the disease is characterized by pathogenic genetic mutations that lead to fluid-filled cyst development, causing irreversible destruction of kidney parenchyma and function. This can ultimately lead to the need for kidney replacement therapy, making it the fourth leading cause of kidney failure. Approximately 50% of patients with ADPKD progress to kidney failure by age 59 years in males and 64 years in females. ADPKD is also a systemic disorder, which may contribute to its increased morbidity and negative outcomes, especially in the kidney failure population. Because of the progressive nature of the disease, there is strong interest in better understanding the natural course of ADPKD.

Better insights into ADPKD could lead to earlier detection in life before the onset of kidney failure and could help implement management strategies to delay progression. Current management strategies include blood pressure control, exercise, low-salt diet, and hydration. Although there is no cure for ADPKD, tolvaptan, a selective vasopressin V2 receptor blocker, has been Food and Drug Administration approved as the first treatment to slow kidney function decline in adults at risk of rapidly progressing ADPKD. In addition, earlier identification and follow-up with a nephrologist may lead to more optimal management of patients with ADPKD, including earlier listing for kidney transplant.

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Mishita
Jornal co-ordinator
Journal of Clinical & Experimental Nephrology