Autosomal recessive polycystic kidney disease : Qworld Nephrology Notes by Tanmay Mehta For PG Medical Entrance Exam like NEETPG , AIPGMEE , AIIMS , USMLE , DNB Facebook.com/qworld.co.in

1. 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.