Partial Adenine Phosphoribosyltransferase Deficiency Detected by Ureterolithiasis
| Autor: | Kenjiroh Inagaki, Tetsuya Hosooka, Akihiro Muraoka, Itsuo Suehiro, Keiji Murakami, Masatoshi Fujii, Kazuhisa Kida, Hirohisa Ueno |
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| Rok vydání: | 1998 |
| Předmět: |
Adult
Male Purine-Pyrimidine Metabolism Inborn Errors medicine.medical_specialty Ureteral Calculi Urinary stone Molecular Sequence Data Adenine Phosphoribosyltransferase Adenine phosphoribosyltransferase Adenine phosphoribosyltransferase deficiency Stone analysis Gastroenterology Ureter Recurrence Urinary sediment Internal medicine Internal Medicine medicine Humans Ureterolithiasis Alleles Base Sequence business.industry Adenine DNA General Medicine medicine.disease Pedigree Phenotype medicine.anatomical_structure Endocrinology Etiology Female business |
| Zdroj: | Internal Medicine. 37:69-72 |
| ISSN: | 1349-7235 0918-2918 |
| DOI: | 10.2169/internalmedicine.37.69 |
| Popis: | A 30-year-old woman was admitted to our hospital because of recurrent ureterolithiasis. She was suspected of having adenine phosphoribosyltransferase (APRT) deficiency based on the presence of 2,8-dihydroxyadenine (DHA) crystals in her urinary sediment, infrared spectrophotometric analysis of the excreted stone, and then the definitive diagnosis by gene analysis. A pedigree study indicated only a slight possibility of this disease in the family. From these results, we consider that urinary sediment and stone analysis should be used for screening while gene analysis should be employed for definitive diagnosis of APRT deficiency, so that the complications of this condition can be prevented. |
| Databáze: | OpenAIRE |
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