CASE REPORT
Year : 2018  |  Volume : 12  |  Issue : 2  |  Page : 332-334

Renal oxalate stones in children with Zellweger spectrum disorders


Department of Surgery, Division of Urology, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia

Correspondence Address:
Dr. Hamdan Hammad Alhazmi
Department of Surgery (37), Division of Urology, College of Medicine, King Saud University Medical City, King Saud University, PO Box 7805, Riyadh 11472
Saudi Arabia
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/sja.SJA_699_17

Rights and Permissions

Peroxisomal biogenesis disorders due to PEX gene defects are classified into many subgroups, of which Zellweger spectrum disorders (ZSDs) represent the major subgroup. The ZSDs are clinical and biochemical disorders divided into three phenotypes: neonatal, adolescence, or adult. Clinical presentations vary with severity of the condition. Metabolic abnormalities occur due to functional peroxisomal defects that could be detected in blood and urine. No cure or definitive management exists to date; only supportive and palliative measures are applied to prevent worse sequelae. We experienced a case of oxalate renal stones in a patient with ZSD. This patient had hyperoxaluria and hyperglycolic aciduria with clinically associated clues that correlate with urinary oxalate load. Urinary oxalate and glycolate excretion were assessed. Radiological workup revealed renal involvement with urolithiasis and nephrocalcinosis. Urinalysis and ultrasonography for stones and hyperoxaluria should be used to screen patients with ZSD for early intervention to prevent renal damage.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed211    
    Printed6    
    Emailed0    
    PDF Downloaded16    
    Comments [Add]    

Recommend this journal