Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure
| Autor: | Giuseppe Garigali, Maria Angela Pavesi, Alberto Edefonti, Gianantonio Manzoni, Giuseppina Marra, Lionel Mockel, Irene Ceballos Picot, Paolo Gilles Vercelloni, Giovanni B. Fogazzi |
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| Rok vydání: | 2011 |
| Předmět: |
endocrine system
medicine.medical_specialty Kidney Pathology business.industry Adenine phosphoribosyltransferase Adenine phosphoribosyltransferase deficiency Urine medicine.disease Gastroenterology Article Primary hyperoxaluria chemistry.chemical_compound medicine.anatomical_structure chemistry Internal medicine Uric acid Medicine Renal colic Differential diagnosis medicine.symptom business |
| Zdroj: | JIMD Reports ISBN: 9783642280955 |
| DOI: | 10.1007/8904_2011_92 |
| Popis: | We describe an infant affected by adenine phosphoribosyltransferase (APRT) deficiency diagnosed at 18 months of age with a de novo mutation that has not been previously reported. APRT deficiency is a rare defect of uric acid catabolism that leads to the accumulation of 2,8 dihydroxyadenine (2,8-DHA), a highly insoluble substance excreted by the kidneys that may precipitate in urine and form stones. The child suffered from renal colic due to a stone found in the peno-scrotal junction of the bulbar urethra. Stone spectrophotometric analysis allowed us to diagnose the disease and start kidney-saving therapy in order to avoid irreversible chronic kidney damage. APRT deficiency should always be considered in the differential diagnosis of pediatric urolithiasis. |
| Databáze: | OpenAIRE |
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