Qworld Nephrology Notes Tanmay Mehta

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Chromosome 6 p21 single genetic disease with variable phenotypic presentation neonatal, infantile, or juvenile relative degree of involvement of the kidneys and liver

At birth the kidneys are enlarged with

a smooth external surface. The distal tubules and collecting ducts

are dilated into elongated cysts that are arranged in a radial fashion.

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.

The majority of cases are diagnosed in the first yearQ of life, presenting as Qbilateral Qabdominal masses.

Death in the neonatal period is most commonly due to pulmonary hypoplasiaQ. Hypertension Qand impaired urinary concentrating abilityQ are common course to ESRD is variable, though many children maintain adequate kidney function for

years

Older children present with complications secondary to congenital hepatic fibrosis Hepatosplenomegaly, portal hypertension,Q and esophageal varices

QUltrasound is the most common technique used to diagnose ARPKD, prenatally and in

childhood: enlarged kidneys with increased echogenicity IVP : SUNBURST PATTERNQ

Aggressive treatment of hypertension and urinary tract infection are

the major goals Dialysis and transplant are appropriate when kidney

failure occurs. Hepatic fibrosis may lead to life-threatening variceal

hemorrhage, requiring sclerotherapy or portosystemic shunts.