Autosomal Dominant Polycystic Kidney Disease

high hematocrits as erythropoietin production is high

Fluid overload d/t ↑ tendency for renal salt wasting
Pathology Hepatic cysts Cysts are generally asymptomatic
Chromosome 16(PKD1) & chrom 4(PKD2) liver function normal, though women may develop
The kidneys are grossly enlarged, with multiple cysts studding the massive hepatic cystic disease on occasion.
surface of the kidney. Intracranial In 5 to 10% of asymp pts, w potential for permanent
The cysts aneurysms neurologic injury or death from subarachnoid h/rage
 contain straw-colored fluid that may bcome hemorrhagic. Colonic diverticular
 spherical, vary in size, Mitral valve prolapse
 distributed evenly throughout the cortex and medulla.
Cysts form when a “second hit” causes a somatic mutation in the Diagnosis
normal allele of a tubule cell, leading to monoclonal proliferation Ultrasound  diagnosis of symptomatic & screening
of the tubular epithelium. The remaining renal parenchyma reveals asymptomatic family members.
varying degrees of tubular atrophy, interstitial fibrosis, and nephrosclerosis.  Standard dx criteria→ at least three to five
cysts in each kidney
Clinical Features (CT) scan > sensitive than ultrasound in detection of small cysts
may present at any age but most frequently causes symptoms in the 3rd or 4th Genetic linkage analysis  reserved for cases where radiographic
decade. imaging is -ve
chronic flank pain mass effect of the enlarged kidneys  need for definitive diagnosis critical, such as
Acute pain indicates screening family members for potential kidney
 infection, donation
 urinary tract obstruction by clot
 stone, Treatment
 sudden hemorrhage into a cyst  The goals of tx → to slow the rate of progression of renal dz & minimize
hematuria Gross and microscopic symp.
nocturia. d/t impaired renal concentrating ability  Hypertension and renal infection should be treated aggressively to
Nephrolithiasis  calcium oxalate and uric acid stones maintain renal function.
 d/t ↓ urine pH,↓urine citrate, & urinary stasis  Converting enzyme inhibitors are effective antihypertensive agents, but
from distortion of the collecting system by cysts pts should be closely monitored as some develop renal insufficiency &
Hypertension d/t 2 to intrarenal ischemia from distortion of the renal
0 hyperkalemia.
architecture,→ to activation of the renin-angiotensin  Urinary infection is treated in as usual unless a pyocyst is suspected, in
system. which case antibiotics that penetrate cysts should be used, such as
ESRD trimethoprim-sulfamethoxazole, ciprofloxacin, and chloramphenicol.
UTI may involve  Chronic pain from cysts can be managed by cyst puncture and sclerosis
 bladder with ethanol.laparoscopic cyst removal or nepherectomy
 renal interstitium (pyelonephritis)
 infect a cyst (pyocyst)
Renal failure

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 Tx
Autosomal Recessive Polycystic Kidney Disease Major goals→Aggressive treatment of hypertension and urinary tract infection
 Chrom 6 →maintain native renal function
 At birth the kidneys are enlarged with a smooth external surface. Kidney failure→Dialysis and transplant are appropriate.
 The distal tubules and collecting ducts are dilated into elongated cysts Hepatic fibrosis may lead to life-threatening variceal hemorrhage, requiring
that are arranged in a radial fashion. sclerotherapy or portosystemic shunts
 As the patient ages, the cysts may become more spherical and the
disease can be confused with ADPKD.
 Interstitial fibrosis is also seen as renal function deteriorates. Liver
involvement includes proliferation and dilation of intrahepatic bile ducts
as well as periportal fibrosis.

Clinical Features
 The majority of cases are diagnosed in the first year nof life
 bilateral abdominal masses.
 Death in the neonatal period is most commonly d/t pulmonary
hypoplasia.
 Hypertension
 impaired urinary concentrating ability
 ESRD but many children maintain adequate kidney fx for years.
 Older children present with complications secondary to congenital
hepatic fibrosis and generally have less severe kidney disease.
 Cx o ARPKD
Hepatosplenomegaly,
portal hypertension,
esophageal varices.

Diagnosis
Ultrasound
 prenatally and in childhood.
 Reveals enlarged kidneys with increased echogenicity. .
 A thorough family history and imaging the kidneys of the parents aids in
differentiation from other cystic diseases.
 Hepatic fibrosis seen on imaging studies in association with cystic
kidneys supports the diagnosis of ARPKD.

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