Kidney stone analysis may miss diagnoses as demonstrated by a case of adenine phosphoribosyl transferase deficiency.

Bramley, R.; Herrera, D.; Barski, R.; Henderson, M.

Kidney stone analysis may miss diagnoses as demonstrated by a case of adenine phosphoribosyl transferase deficiency.

All Authors

Bramley, R.

Herrera, D.

Barski, R.

Henderson, M.

LTHT Author

Barski, Robert
Henderson, Michael

LTHT Department

Pathology
Specialist Laboratory Medicine

Non Medic

Clinical Scientist
Clinical Scientist

Publication Date

2025

Item Type

Journal Article

Abstract

Fourier-transformed infrared (FTIR) spectroscopy is a frequently requested test in patients with kidney stones. It is considered particularly useful when routine stone urine screens do not identify any significant abnormalities. This case report describes a patient with undiagnosed adenine phosphoribosyltransferase (APRT) deficiency, a disorder presenting with kidney stones, who had initial symptoms at 16 months of age but no diagnosis until they were 6 years old. Initial investigations including a urine stone screen did not show significant abnormalities; however, FTIR analysis suggested the stones had a significant component identified as lansoprazole, a drug the patient was not taking. After repeated stone formation, urinary tract infections and inpatient stays, the disorder was identified incidentally during validation of a method for purine and pyrimidines in urine. This case highlights that FTIR analysis, although useful, has pitfalls and that other investigations are of equal value in reaching a diagnosis.