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BMJ Case Rep. 2010; 2010: bcr0320102843.
Published online 2010 September 10. doi:  10.1136/bcr.03.2010.2843
PMCID: PMC3027478
Reminder of important clinical lesson

Autosomal recessive polycystic kidney disease: the importance of autopsy of suspected cases and genetic counselling


Autosomal recessive polycystic kidney disease (ARPKD) is a common inheritable cystic renal disease that has a profound effect on the growing fetus and on subsequent pregnancies, being fatal in 30% to 50% cases in the neonatal period. Prenatal imaging studies are only suggestive of the disorder and it is evident only from the second trimester onwards. Prenatal molecular linkage analysis can identify the disorder, but have a prerequisite of previous DNA analysis of parents and one sibling. ARPKD can be accurately diagnosed on characteristic histopathological features if an autopsy is performed in cases of infant death where the prenatal imaging studies and clinical findings are suggestive of the disease. A case of the characteristic histopathological findings of ARPKD on autopsy of a live-born neonate who died shortly after birth, with prenatal ultrasonographic findings suggestive of renal cystic disease, is presented.

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