PAMJ Clinical Medicine (Dec 2019)
First case of hereditary xanthinuria in a Moroccan family
Abstract
The xanthinuria is a rare hereditary autosomal recessive disease. It is related to xanthine oxidase deficiency also known as xanthine dehydrogenase, an enzyme involved in the metabolism of purine bases. In this work, we describe the first cases of hereditary xanthinuria in a Moroccan family. We report a case of a 49-year-old woman, with type 2 diabetes, who was referred to the laboratory of clinical biochemistry for the first time for her periodic biological monitoring. In this patient, all measured biochemical parameters were normal except a moderate hyperglycemia and an undetectable uric acid in serum and urine. This prompted us to perform the assay of oxipurine in the urine. Urine samples from the younger brother and sister were also obtained and analyzed. High-performance-liquid-chromatography analysis showed an increase of urinary xanthine and hypoxanthine. The younger brother (43 years old), presented also an undetectable urinary uric acid. The determination of urinary oxipurines revealed an accumulation of xanthine and abnormal hypoxanthine concentration. Faced with these results, the diagnosis of hereditary xanthinuria was confirmed. It is a fortuitous discovery in this Moroccan family. The clinical examination did not find any signs described for this pathology such as myalgia or arthropathies. The presence of kidney stones has not been reported by abdominal ultrasound in our patients. The xanthinuria is a rare hereditary disorder. Xanthine oxidase deficiency is causing the accumulation of oxipurines whose major risk is the formation of xanthine calculi and progression to renal failure. Serious complications of this disease require early prevention by dietary measures in the absence of a specific treatment; so it is very important to detect the disease early, but it remains difficult because of the fact that this pathology is often asymptomatic.
Keywords
