Case Report

Volume: 6 | Issue: 3 | Published: Apr 16, 2022 | Pages: 52 - 57 | DOI: 10.24911/ejmcr/173-1647277526

Missed diagnosis of oxalosis with disastrous consequences. Case reports of a father and daughter


Authors: Rui Nabico orcid logo , Udayakumar Ramachandran , Usman Khan , Quratulain Sabih , Kashif Rahim , M. Babar Imran orcid logo


Article Info

Authors

Rui Nabico

Director, Multan Ultrasound Service, Jail Road, Multan, Pakistan

orcid logo ORCID

Udayakumar Ramachandran

Director, Genesis Scans, Chennai, India

Usman Khan

Assistant Professor, Nephrology, University of Oklahoma Medical Centre, Oklahoma City

Quratulain Sabih

Fellow Breast Oncological Surgery, Roswell Park Cancer Center, New York

Kashif Rahim

Principal Medical Officer and Head, Section of Ultrasound, Multan Institute of Nuclear Medicine and Radiotherapy, Multan, Pakistan

M. Babar Imran

Director, Punjab Institute of Nuclear Medicine, Faisalabad, Pakistan.

orcid logo ORCID

Publication History

Received: March 15, 2022

Revised: April 02, 2022

Accepted: April 02, 2022

Published: April 16, 2022


Abstract


Background: Hyperoxalosis is a rare disease that originates from a defect in a liver enzyme and results in renal failure, if not diagnosed in time. Once end-stage renal disease is established, a transplant is the treatment of choice. But a kidney-only transplant can fail due to the mobilization of the excess oxalates in the tissue, and many authorities recommend a combined kidney-liver transplant. Case Presentation: We describe a case where the diagnosis of oxalosis was missed, resulting in renal transplant failure and excision of the graft. The diagnosis was made only on noting florid heterotopic calcification. A renal transplant was performed due to end-stage renal disease, but graft failure occurred and had to be excised due to recurrent oxalosis, again without diagnosis, despite imaging and graft biopsy. It was only when muscle calcification was noted for an unrelated indication that a diagnosis was made. The case highlights the importance of excluding all causes of nephrocalcinosis, including rare ones like oxalosis, in the management of chronic renal disease. Conclusion: We hope to alert the physician to consider primary hyperoxalosis as a differential diagnosis in renal failure patients with recurrent calcium oxalate renal stones and/or nephrocalcinosis.

Keywords: Hyper oxaluria, oxalosis, nephrocalcinosis, renal transplant failure, graft failure, green