Renal cystic diseases: a review

Area of Science:

• Nephrology
• Medical Genetics
• Pathology

Background:

• Cystic kidney diseases encompass a wide spectrum of inherited, developmental, and acquired conditions.
• Accurate classification is crucial for diagnosis, prognosis, and management.
• Existing literature presents challenges in categorizing these diverse entities.

Purpose of the Study:

• To provide a comprehensive categorization of inherited, developmental, and acquired cystic kidney diseases.
• To offer an updated bibliography for these conditions.
• To aid clinicians and researchers in understanding and diagnosing renal cystic diseases.

Main Methods:

• Systematic review of literature on renal cystic diseases.
• Inclusion of conditions ranging from polycystic kidney disease to acquired cystic disease in dialysis patients.
• Analysis of diagnostic criteria, including gross, histologic, clinical, and molecular findings.

Main Results:

• Detailed classification of numerous cystic kidney conditions, including autosomal-dominant and -recessive polycystic kidney disease, multicystic dysplastic kidney, medullary sponge kidney, and cystic renal cell carcinoma.
• Highlights the diagnostic utility of gross and histologic examination for some conditions.
• Emphasizes the necessity of clinical and molecular studies for definitive diagnosis in other cases.

Conclusions:

• A structured approach to categorizing renal cystic diseases is presented.
• The review underscores the heterogeneity of cystic kidney conditions and their varied etiologies.
• Accurate diagnosis often requires a combination of pathological, clinical, and molecular data.