QJM: An International Journal of MedicineTitle: "Imaging of Primary hyperoxaluria with classical renal and skeletal changes"

Chiddarwar Dr Poonam, Dillibabu Ethiraj, Niranjan Dhanaji Kanase, Venkatraman Indiran
QJM: Monthly Journal of the Association of Physicians 2021 February 8
Primary hyperoxaluria (PH) is a rare metabolic disorder with autosomal recessive inheritance pattern which is due to deficiency of alanine-glyoxylate aminotransferase enzyme. It causes defective glyoxylate metabolism in liver which in turn leads to excessive oxalate production and deposition. Supersaturation of oxalic acid in urine (>45 mg/day) is known as hyperoxaluria which causes nephrolithiasis, cortical nephrocalcinosis and renal insufficiency. Secondary hyperoxaluria is due to over ingestion of oxalic acids or its precursors or can be due to its reduced excretion. Deposition of these highly insoluble calcium oxalate crystals (serum oxalate >30.0 mmol/L) in extra-renal tissues is known as systemic oxalosis. Here we present a rare case of infantile presentation, where nephrocalcinosis sets in at a very early age without nephrolithiasis, leading to ESRD in very early childhood and extra renal deposition in skeletal system.

Full Text Links

Find Full Text Links for this Article


You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"