<p>Autosomal dominant polycystic kidney disease: updated perspectives</p>

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited multisystem disorder, characterized by renal and extra-renal fluid-filled cyst formation and increased kidney volume that eventually leads to end-stage renal disease. ADPKD is considered the fourth leading cause of end-stage renal disease in the United States and globally. Care of patients with ADPKD was, for a long time, limited to supportive lifestyle measures, due to the lack of therapeutic strategies targeting the main pathways involved in the pathophysiology of ADPKD. As the first FDA approved treatment of ADPKD, Vasopressin (V2) receptor blocking agent, tolvaptan, is an urgently awaited advance for ADPKD patients. In our review, we also shed some lights on what is beyond Tolvaptan as there are other medications in the pipeline and many medications have been or are currently being studied in clinical trials such as Tesevatinib, Metformin and Pravastatin, with the goal of slowing the rate of progression of ADPKD by reducing the increase in total kidney volume or maintaining eGFR. Here, we review updates in the perspectives and management of ADPKD.

Safety Profile of Tolvaptan in the Treatment of Autosomal Dominant Polycystic Kidney Disease

“…In addition, ADPKD is linked to several extrarenal manifestations, especially liver cysts and intracranial aneurysms. 4 Importantly, the majority of patients develop hypertension and endothelial dysfunction, 5 leading to high rates of cardiovascular morbidity and mortality. 6 …”

Horseshoe Kidney in Conjunction With Autosomal Dominant Polycystic Kidney Disease: A Case Report

“…It is estimated that up to 35% of patients with ADPKD have reported nephrolithiasis. 2 Common symptoms attributed to these complications include chronic pain, fever, gross hematuria, and sleep disturbances all of which may decrease patients' quality of life. 14 Hypertension is the most common complication associated with ADPKD, developing in 50% to 70% of patients at an early age.…”

“…Commonly, the volume of the diseased native kidneys decreases significantly after transplantation; because of this, native kidney nephrectomy along with transplantation is usually only indicated if patients have severe complications or if additional space within the abdomen needs to be made. 2 Sonography is the imaging modality of choice when it comes to the diagnosis, evaluation, and monitoring of ADPKD. 11 Gray-scale and Doppler imaging aid in characterizing cysts from other solid lesions, differentiating simple from complex cysts, and determining internal versus peripheral vascularity.…”

A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by de novoPKD1 mutation

“…ADPKD is a common hereditary kidney disease characterized by progressive development and growth of bilateral renal cysts, resulting in a large number of abnormalities, such as proteinuria and hematuria, the most important of which is the impairment of renal function 24‐26 . The ADPKD has a high incidence, and population‐based epidemiological studies estimate that ADPKD affects one of 400 to 1000 live births, or 12.5 million people 27 .…”