2. Autosomal Recessive Polycystic Kidney Disease (ARPKD):

• Rare, occurring in 1 in 20,000 births.
• Caused by mutations in the PKHD1 gene, affecting the fibrocystin protein.
• Severe form with symptoms presenting at birth or in early childhood.

Common Symptoms of Polycystic Kidney Disease (PKD)

ADPKD Symptoms: How Autosomal Dominant Affects Kidney Function

• Flank or back pain
• High blood pressure (hypertension)
• Hematuria (blood in urine)
• Recurrent urinary tract infections (UTIs)
• Kidney stones
• Chronic kidney disease (CKD)

ARPKD Symptoms: Symptoms of Autosomal Recessive PKD in Infants

• Enlarged kidneys in infants
• Pulmonary hypoplasia (underdeveloped lungs)
• Oligohydramnios (low amniotic fluid)
• High blood pressure
• Liver fibrosis leading to portal hypertension
• Growth impairment in children

Diagnosis and Tests for Polycystic Kidney Disease (PKD)

Imaging Studies for PKD Diagnosis: Ultrasound, MRI, and CT Scan

• Ultrasound (USG): First-line diagnostic tool for detecting cysts.
• MRI/CT Scan: Used to assess total kidney volume and cyst burden.

Genetic Testing: Confirming PKD Mutations for Accurate Diagnosis

• Confirms PKD1, PKD2, or PKHD1 mutations.
• Recommended for individuals with a family history of PKD or ambiguous imaging results.

Blood and Urine Tests for Kidney Function and PKD Detection

• Evaluates kidney function (serum creatinine, BUN levels).
• Identifies proteinuria or hematuria.

Treatment and Management of Polycystic Kidney Disease (PKD)

1. Supportive Care for Polycystic Kidney Disease: Managing Symptoms and Kidney Health

• Hypertension Control: ACE inhibitors/ARBs (target BP <130/80 mmHg)
• Pain Management: NSAIDs (short-term), opioids if necessary
• Lifestyle Modifications: High fluid intake, low-sodium diet, avoiding nephrotoxins

2. Disease-Specific Therapy: Slowing PKD Progression with Tolvaptan

• Tolvaptan: A V2 receptor antagonist that slows cyst growth and kidney function decline in ADPKD patients.

3. Management of ESRD Patients: Dialysis and Kidney Transplant Options

• Dialysis (Hemodialysis or Peritoneal Dialysis): Used when kidney function declines significantly.
• Kidney Transplant: Definitive treatment for ESRD patients.

Potential Complications of Polycystic Kidney Disease (PKD)

ADPKD Complications: Understanding the Risks of End-Stage Renal Disease

• ESRD requiring dialysis or transplantation
• Recurrent kidney infections and UTIs
• Kidney stones
• Increased risk of intracranial aneurysms (especially in those with a family history of stroke)
• Hepatic cysts and diverticulosis

ARPKD Complications: Risks Associated with Neonatal and Childhood

• High neonatal mortality due to respiratory failure
• Chronic liver disease and portal hypertension
• Growth retardation
• Increased risk of kidney and liver failure in survivors

Prognosis of Polycystic Kidney Disease (PKD)

ADPKD Prognosis: Progression to ESRD and Kidney Transplantation

• ESRD typically develops by the 50s in PKD1 mutation carriers and in the 70s for PKD2 mutation carriers.

ARPKD Prognosis: Neonatal Survival and Long-term Outlook

• High neonatal mortality rate, but long-term survival is possible with proper management of kidney and liver complications.

Conclusion: The Importance of Early Diagnosis and Treatment for PKD

Polycystic Kidney Disease (PKD) is a serious genetic disorder with progressive complications. Early diagnosis and management can slow disease progression and improve quality of life. Regular monitoring, lifestyle changes, and advanced medical treatments offer hope for patients affected by PKD.

Stay Informed and Take Action: Consult a Nephrologist

If you or a loved one has a family history of PKD, consult a nephrologist for screening and early intervention.