Prevalence, risk factors and disease knowledge of polycystic kidney disease in Pakistan
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Updated: Dec 3, 2025

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
Rabia Zahid1, Muhammad Akram1, Ejaz Rafique2
1Department of Eastern Medicine and Surgery, Government College University Faisalabad, Faisalabad, Pakistan.
Insights
Polycystic kidney disease involves cyst formation, leading to end-stage renal disease and high mortality. Early diagnosis via family history and ultrasonography aids management, with renal transplantation as the optimal treatment.
Area of Science:
- Nephrology
- Genetics
- Medical Diagnostics
Background:
- Polycystic kidney disease (PKD) is a common genetic disorder characterized by cyst formation in the kidneys, often leading to end-stage renal disease (ESRD) and increased mortality.
- It presents in two main forms: autosomal dominant polycystic kidney (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), with distinct prevalence rates and age of onset.
- PKD manifests with renal and extra-renal complications, including hypertension and cysts in organs like the liver, influenced by its genetic basis and family history.
Discussion:
- Ultrasonography, combined with family history, is the primary diagnostic tool for PKD, identifying enlarged kidneys and altered renal architecture.
- While initially asymptomatic, PKD progresses to symptomatic stages requiring management of complications such as hypertension.
- Treatment strategies range from symptomatic management and surgical interventions like cyst decortication to dialysis for ESRD and renal transplantation as the definitive treatment.
Key Insights:
- PKD is a significant genetic cause of ESRD with substantial mortality.
- Early and accurate diagnosis through ultrasonography and family history is crucial for timely intervention.
- Renal transplantation offers the best long-term outcome for patients with end-stage PKD.
Outlook:
- Further research into the genetic underpinnings of PKD may reveal novel therapeutic targets.
- Advancements in diagnostic imaging and monitoring could improve early detection and disease management.
- Focus on personalized treatment approaches based on PKD subtype and patient-specific factors is essential for improving patient outcomes.
Abstract:
Polycystic kidneys disease refers to cyst(s) formation in kidneys with severe consequences of end stage renal disease thus have higher mortality. It is a common genetic disease occurring either as autosomal dominant polycystic kidney (ADPKD) or autosomal recessive polycystic kidney disease (ARPKD) with prevalence rates of 1/1000 and 1/40,000 respectively. Dominant forms presenting in later (>30) while recessive in earlier ages (infancy) and affecting both sexes and almost all race. The patient experiences many renal as well as extra-renal manifestations with marked hypertension and cyst formation in other organs predominantly in liver. Due to genetic basis, positive family history is considered as major risk factor. Ultrasonography remains the main stay of diagnosis along with family history, by indicating increased renal size and architectural modifications. Initially disease remains asymptomatic, later on symptomatic treatment is suggested with surgical interventions like cyst decortications or drainage. Dialysis proved to be beneficial in end stage renal disease. However renal transplantation is the treatment of choice.
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