Polycystic kidney disease is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys.
Autosomal Dominant (ADPKD)
- PKD1/2 mutation
- Small change - present as adults
- Rarely any symptoms with child with the condition. Most cases present between 30 to 60 y/o
- Cysts can also develop in liver and pancreas
Autosomal Recessive (ARPKD)
- Affected in womb
- PKHD1 gene mutation
- Under developed lungs
- 1/3 die in first month of birth
Causes/Factors
- ADPKD: Caused by a mutation in either the PKD1 or PKD2 gene, which leads to abnormal cyst formation in the kidneys.
- ARPKD: Caused by mutations in the PKHD1 gene and typically manifests in infancy or early childhood.
Symptoms
- Hypertension: Elevated blood pressure.
- Pain: Abdominal or back pain due to enlarged kidneys and cysts.
- Hematuria: Blood in the urine.
- Urinary Tract Infections: Due to cysts obstructing normal urine flow.
- Urolithiasis: Due to cysts interfering with urinary drainage.
- Renal Dysfunction: Impaired kidney function over time.
Extra-renal manifestations include:
- Cerebral aneurysms
- Hepatic, splenic, pancreatic, ovarian and prostatic cysts
- Mitral regurgitation
- Colonic diverticula
Signs
- Enlarged Kidneys: Visible enlargement due to cyst growth.
- Family History: Especially in cases of ADPKD.
Diagnostic Tests
- Ultrasound: Imaging test to visualise cysts in the kidneys.
- Genetic Testing: To confirm the presence of PKD-related gene mutations.
- MRI or CT Scan: To assess kidney size, cysts, and complications.
Management
- Tolvaptan (vasopressin receptor antagonist) can slow the development of cysts and the progression of renal failure in autosomal dominant PCKD
- Antihypertensives for Essential hypertension (e.g., ACE inhibitors)
- Analgesia for acute pain
- Antibiotics for infections (e.g., UTIs or cyst infections)
- Drainage of symptomatic can be performed by aspiration or surgery
- Dialysis for end-stage renal failure
- Renal transplant for end-stage renal failure
Complications/red Flags
- Kidney Failure: Gradual loss of kidney function.
- Cyst Rupture or Bleeding: Pain and complications due to cysts bursting or bleeding.
- Urinary Tract Infections: Frequent infections due to cyst obstruction.