Liver and intrahepatic bile ducts-nontumor
Metabolic diseases
Primary hyperoxaluria

Author: Komal Arora, M.D.(see Authors page)

Revised: 21 September 2017, last major update April 2012

Copyright: (c) 2004-2017, PathologyOutlines.com, Inc.

PubMed Search: liver primary hyperoxaluria [title]

Cite this page: Arora, K. Primary hyperoxaluria. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/liverprimaryhyperox.html. Accessed October 21st, 2017.
Definition / general
  • Autosomal recessive, either type 1 (defect/absence of alanine-glyoxalate aminotransferase on 2q37.3; patients have variable clinical presentation from end stage renal disease to occasional kidney stones) or type 2 (absence of glyoxylate reductase activity at #9)
Sites
  • In liver, deposited in portal areas and arterial media
Pathophysiology
  • Oxalate is a metabolic end product normally excreted by kidneys; type 1 or 2 disease causes increased oxalate synthesis and excretion, eventually deposition of insoluble calcium oxalate in kidney, bones, heart, arteries
Case reports
Treatment
  • Increase urine volume; pyridoxine, high phosphate diet
Microscopic (histologic) description
  • Crystals are birefringent
Microscopic (histologic) images

Images hosted on PathOut server:

Case of the Week #436



Images hosted on other servers:

Crystals in portal areas

Differential diagnosis
  • Increased Vitamin C, methoxyflurane, ethylene glycol, xylitol, chronic inflammatory bowel disease, small bowel resection, external biliary drainage
Board review question #1
The type of kidney and bladder stones most often encountered in primary hyperoxaluria (PH) are:

A. Calcium stones
B. Mixed stones
C. Pyruvate stones
D. Struvite stones
Board review answer #1
A. Calcium stones. Oxalate excretion is almost entirely via the kidneys, predominantly as highly insoluble calcium salts