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NP32 Nephrology

Cystic Diseases of the Kidney

Signs and Symptoms


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

Essential Med Notes 2015

External Manifestations of PCKD


Hepatic cysts
Cerebral aneurysms
Diverticulosis
Mitral valve prolapse