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A Possible Zebrafish Model of Polycystic Kidney Disease: Knockdown of wnt5a Causes Cysts in Zebrafish Kidneys
Published on: December 2, 2014
[Renal manifestation of Autosomal Dominant Polycystic Kidney Disease]
Marco Galliani1, Silvana Chicca1, Elio Vitaliano1
1UOC Nefrologia, Dialisi e Litotrissia, Ospedale Sandro Pertini, ASL RM2, Roma, Italia.
Insights
Autosomal dominant polycystic kidney disease (ADPKD) causes kidney failure through cyst formation. Early hypertension and impaired urinary concentration are key signs, with ACE inhibitors potentially slowing disease progression.
Area of Science:
- Nephrology
- Genetics
- Internal Medicine
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a leading monogenic kidney disease affecting millions globally, often leading to end-stage renal disease (ESRD).
- Early manifestations include impaired urinary concentrating capacity and vasopressin resistance, progressing to hyperfiltration, hypertension, and renal fibrosis.
- The renin-angiotensin-aldosterone system plays a crucial role in disease progression, cyst growth, and hypertension, which can lead to ventricular hypertrophy.
Purpose of the Study:
- To summarize the key clinical manifestations and progression factors of ADPKD.
- To highlight the role of hypertension and its management in ADPKD.
- To discuss risk factors and potential scoring systems for predicting rapid disease progression.
Main Methods:
- Review of existing literature on ADPKD pathophysiology, clinical presentation, and management.
- Analysis of factors influencing disease progression, including hypertension, total kidney volume (TKV), and genetic mutations.
- Discussion of therapeutic strategies, particularly the role of blood pressure control and ACE inhibitors.
Main Results:
- Early-onset hypertension and impaired urinary concentration are significant indicators of ADPKD progression.
- Elevated blood pressure, cyst growth, and renal fibrosis are linked to RAAS activation.
- Rigorous blood pressure control, especially with ACE inhibitors, may decrease the rate of glomerular filtration decline.
- Rapid progression is associated with factors like age, genetic mutation, family history of ESRD, macrohematuria, and early hypertension, with TKV exceeding 1500 ml indicating faster decline.
Conclusions:
- Effective management of hypertension is critical for slowing ADPKD progression and preventing ESRD.
- ACE inhibitors show promise in mitigating renal disease progression in ADPKD patients.
- Risk stratification using clinical and genetic scores can aid in identifying patients at high risk for rapid disease progression.
Abstract:
Autosomal dominant polycystic kidney disease affects over 12 million people in the world and is the fourth cause of ESRD. It is the main monogenic kidney disease and causes the progressive formation of cysts leading to renal failure after a few decades. The main manifestations of the disease are observed even at a young age. The early sign of ADPKD is impaired urinary concentrating capacity, due to medullary alteration by cysts, and resistance to vasopressin. These anatomical alterations determine hyperfiltration, altered ammonium transport, nephrolithiasis, and, above all, hypertension even in pediatric age. Activation of the renin-angiotensin-aldosterone system has been shown responsible for the maintenance of high pressure values as well as the growth of cysts and renal fibrosis. Arterial hypertension would be responsible for ventricular hypertrophy. Many recent studies have confirmed the role of pressure control, especially if rigorous, in decreasing the progression of renal disease, and the use of ACE inhibitors seems to have higher efficacy than other antihypertensive drugs. The progression of renal disease is evidenced by the reduction of glomerular filtration which may be minimal in the early years, due to hyperfiltration, but, then, may even exceed 5 ml / min per year, especially when the total kidney volume (TKV) exceeds 1500 ml. In more rapid progression forms, ESRD may appear at about 55 years of age. The main risk factors are age, genetic mutation, familiarity with ESRD, macrohematuria episodes, and early onset hypertension. Some authors have proposed both genetic and clinical scores that can provide guidance on the probability of rapid progression. Other renal manifestations include kidney pain, nephrolithiasis, urinary tract infections and cyst hemorrhage. Renal cell carcinoma is a very rare event.
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