often asymptomatic; discovered incidentally on imaging or by screening those with FHx acute abdominal flank pain/dull lumbar back pain hematuria (microscopic frequently initial sign, gross) nocturia (urinary concentrating defect) rarely extra-renal presentation (e.g. ruptured berry aneurysm, diverticulitis) HTN (increased renin due to focal compression of intrarenal arteries by cysts) (60-75%) palpable kidneys Common Complications urinary tract and cyst infections, HTN, CRF, nephrolithiasis (5-15%), flank and chronic back pain Clinical Course polycystic changes are always bilateral and can present at any age clinical manifestations rare before age 20-25 kidneys are normal at birth but may enlarge to 10x normal size variable progression to renal functional impairment (ESRD in up to 50% by age 60) Investigations radiographic diagnosis: best accomplished by renal U/S (enlarged kidneys, multiple cysts throughout renal parenchyma, increased cortical thickness, splaying of renal calyces) CT abdo with contrast (for equivocal cases, occasionally reveals more cystic involvement) gene linkage analysis for PKD1 for asymptomatic carriers Cr, BUN, urine R&M (to assess for hematuria) Treatment goal: to preserve renal function by prevention and treatment of complications educate patient and family about disease, its manifestations, and inheritance pattern genetic counseling: transmission rate 50% from affected parent prevention and early treatment of urinary tract and cyst infections (avoid instrumentation of GU tract) TMP/SMX, ciprofloxacin: able to penetrate cyst walls, achieve therapeutic levels adequate hydration to prevent stone formation avoid contact sports due to greater risk of injury to enlarged kidneys screen for cerebral aneurysms if family history of aneurysmal hemorrhages monitor blood pressure and treat HTN with ACEI dialysis or transplant for ESRD (disease does not recur in transplanted kidney) may require nephrectomy to create room for renal transplant
Medullary Sponge Kidney
common, autosomal dominant, usually diagnosed in 4th-5th decades
multiple cystic dilatations in the collecting ducts of the medulla renal stones, hematuria, and recurrent UTIs are common features an estimated 10% of patients who present with renal stones have medullary sponge kidney nephrocalcinosis on abdominal x-ray in 50% patients, often detect asymptomatic patients incidentally diagnosis: contrast filled medullary cysts on IVP leading to characteristic radial pattern (bouquet of flowers), Swiss cheese appearance on histological cross-section treat UTIs and stone formation as indicated does not result in renal failure
Autosomal Recessive Polycystic Kidney Disease
1:20,000 incidence prenatal diagnosis by enlarged kidneys perinatal death from respiratory failure patients who survive perinatal period develop CHF, HTN, CKD treated with kidney and/or liver transplant