Condition Lookup
Sub-Category:
Polycystic Kidney Disease
Number of Conditions: 2
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Specialty: Nephrology
Category: Chronic and Acute Kidney Diseases
Sub-category: Polycystic Kidney Disease
Symptoms:
high blood pressure; abdominal or flank pain; recurrent urinary tract infections; hematuria (blood in urine); kidney stones; early onset of cyst development
Root Cause:
Autosomal dominant genetic mutation in PKD1 or PKD2 genes, leading to cyst development in both kidneys.
How it's Diagnosed: videos
Family history, imaging studies (ultrasound or CT), and genetic testing if needed.
Treatment:
Blood pressure control, lifestyle changes, tolvaptan for cyst management, and monitoring for complications.
Medications:
Tolvaptan , antihypertensives (e.g., ACE inhibitors), antibiotics for infections, and analgesics for pain management.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 400 to 1,000 people, making it one of the most common genetic disorders.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of ADPKD.
Prognosis:
The expected outcome or course of the condition over time.
Slow progression; about 50% develop ESRD by age 60. Treatment focuses on symptom management and delaying kidney failure.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cyst rupture, chronic pain, liver cysts, aneurysms, and ESRD.
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Specialty: Nephrology
Category: Chronic and Acute Kidney Diseases
Sub-category: Polycystic Kidney Disease
Symptoms:
enlarged kidneys at birth; respiratory distress in newborns; high blood pressure; frequent urinary tract infections; failure to thrive in infants; abdominal distension
Root Cause:
Autosomal recessive genetic mutation in the PKHD1 gene, leading to cyst development in kidneys and liver fibrosis.
How it's Diagnosed: videos
Prenatal imaging (ultrasound), neonatal imaging, genetic testing, and clinical symptoms.
Treatment:
Supportive care for kidney function, blood pressure control, managing infections, and potential dialysis or transplantation.
Medications:
Antihypertensives (e.g., ACE inhibitors or ARBs), antibiotics for infections, and supportive treatments for respiratory complications.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting approximately 1 in 20,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Both parents carrying a mutation in the PKHD1 gene.
Prognosis:
The expected outcome or course of the condition over time.
Variable; severe cases may lead to early mortality, while others may live into adulthood with proper management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Respiratory failure in newborns, liver fibrosis, portal hypertension, and progression to ESRD.