DISEASE SCANNER
Global Incurable Diseases Tracker
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Genetic Disorder
Polycystic Kidney Disease (PKD)
HIGH SEVERITY
A genetic disorder characterized by growth of numerous cysts in the kidneys, leading to enlarged kidneys and progressive loss of kidney function. Autosomal dominant PKD (ADPKD) is most common. Cysts can also develop in liver and other organs.
Global Affected
12.5M
Countries
15
Symptoms
High blood pressure
Back or side pain
Headaches
Blood in urine
Enlarged abdomen
Kidney stones
Frequent UTIs
Kidney failure
Treatment Options
Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care
Risk Factors
1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
ADPKD: ESRD by age 60 in 50%. Tolvaptan slows progression. ARPKD: variable, liver disease major issue. Transplant outcomes good.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
Tolvaptan approved to slow progression in ADPKD. Blood pressure control critical. Treatment of complications. Dialysis or transplant for ESRD. Gene therapy research ongoing.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.