Polycystic Kidney Disease

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Symptom onset
• Symptoms usually occur after 30 years of age, but the disease may also manifest during
childhood.
Renal manifestations
• Gross hematuria
• Flank or abdominal pain
• Recurrent urinary tract infections
• Nephrolithiasis
• Kidneys might be palpable and enlarged on abdominal exam (they are usually normal at
birth)
• Signs of chronic kidney disease (e.g., hypertension, fluid overload, uremia)
Extrarenal manifestations
• Multiple benign hepatic cysts
• Cerebral berry aneurysm (∼8%)
• Cardiovascular
• arterial hypertension; through increased renin production
• mitral valve prolapse
• Colon diverticula (diverticulosis)
Investigation
1.Physical examination: Bilateral palpable kidney
2.Radiological Examination
• Abdominal US
• MRI
• IV urogram
3.Gene Sequencing
Ultrasound
ADPKD
• enlarged kidneys with multiple cysts bilaterally of varying sizes
(anechoic masses)
• In children: evidence of cysts in combination with a family history
positive of ADPKD
• Hepatic, pancreatic, and/or splenic cysts
ARPKD
• Enlarged kidneys with multiple cysts bilaterally of equal size
• Diffuse increased echogenicity, despite the presence of liquid-filled
cysts (anechoic)
• Hepatic cysts
Characteristic ARPKD ADPKD
Mutations in the PKHD1 Mutations in the PKD1 or
Cause
gene PKD2 gene
Inheritance Autosomal recessive Autosomal dominant
Usually diagnosed in Usually diagnosed in
Onset
infancy or childhood adulthood
Cysts present in both Multiple cysts in both
Kidney Cysts
kidneys kidneys
MANAGEMENT
ACE-inhibitors (ACEIs) to prevent/treat hypertension as well as to slow proteinuria
or angiotensin receptor and ESRD progression
blockers (ARBs)
Tolvaptan • Indicated in patients with rapidly progressing ADPKD and mild chronic kidney
disease (GFR ≥ 25 mL/min/1.73 m2 and/or chronic kidney function estimated
between 30–90%)
• Slows down the growth of kidney cysts in ADPKD patients
• Delays progression to ESRD

Early treatment of to prevent renal cyst infection

urinary tract infections
High fluid intake to prevent kidney stone formation and to possibly slow cyst
progression

NSAIDs, sulfonamide antibiotics, aminoglycosides

Avoid nephrotoxic
substances
Avoid ADH
In severe cases: e.g., ESRD
General measures
vasopressin may stimulate cyst growth
• Hemodialysis or peritoneal dialysis
• Kidney transplantation is the only
curative option
• Regular sonographic monitoring and
laboratory evaluation of renal function
• Regular sonographic and laboratory
monitoring of liver and treatment of
hepatic failure
• Genetic counseling