An autopsy case of clinically un-diagnosed autosomal recessive polycystic kidney disease in 77-year-old male
Article first published online: 16 DEC 2012
© 2012 The Authors. Pathology International © 2012 Japanese Society of Pathology and Wiley Publishing Asia Pty Ltd
Volume 62, Issue 12, pages 811–816, December 2012
How to Cite
Taneda, S., Honda, K., Aoki, A., Nitta, K., Tamura, T., Yoshioka, Y. and Oda, H. (2012), An autopsy case of clinically un-diagnosed autosomal recessive polycystic kidney disease in 77-year-old male. Pathology International, 62: 811–816. doi: 10.1111/pin.12011
- Issue published online: 16 DEC 2012
- Article first published online: 16 DEC 2012
- Received 12 July 2012. Accepted for publication 16 October 2012.
- bile duct proliferation;
- collecting duct cysts;
Autosomal recessive polycystic kidney disease (ARPKD) is caused by genetic mutations of the gene encoding fibrocystin, and is characterized by the collecting duct cysts and congenital hepatic fibrosis. We report an autopsy-proven case of ARPKD in a 77-year-old male who presented with rapidly progressive renal and liver dysfunction. He had refused hemodialysis, and died 4 months later. At autopsy, both kidneys were enlarged with numerous small cysts throughout the cortex, which were revealed immunohistochemically to be the collecting ducts. Liver involvement was characterized by ductal plate malformation accompanied with portal fibrosis. The morphological appearances were compatible with ARPKD and the negative immunostaining for fibrocystin in the collecting ducts and bile ducts confirmed the diagnosis. ARPKD is known to occur in the neonatal period or in infancy with a high mortality rate. Although some patients who survive infancy are expected to live longer into young adulthood, most patients with ARPKD die of renal and hepatic failure in their childhood. The present case is extremely exceptional, in that no clinical symptoms suggestive of ARPKD were noticed until old age, and suggests that the disease spectrum of ARPKD is variable, and that a slowly progressive form of ARPKD may not be diagnosed until old age.