Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure

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)...

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Published inJIMD Reports - Case and Research Reports, 2012/2 Vol. 5; pp. 45 - 48
Main Authors Marra, Giuseppina, Vercelloni, Paolo Gilles, Edefonti, Alberto, Manzoni, Gianantonio, Pavesi, Maria Angela, Fogazzi, Giovanni Battista, Garigali, Giuseppe, Mockel, Lionel, Picot, Irene Ceballos
Format Book Chapter Journal Article
LanguageEnglish
Published Berlin, Heidelberg Springer Berlin Heidelberg 01.01.2012
SeriesJIMD Reports
Subjects
Bulbar Urethra
Placenta Praevia
Primary Hyperoxaluria
Twin Sister
Urinary Tract Dilatation
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Summary: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.
Bibliography:The authors Giuseppina Marra and Paolo Gilles Vercelloni equally contributed to the article.
Competing interests: None declared.
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Communicated by: Jean-Marie Saudubray.
ISBN:9783642280955
3642280951
ISSN:2192-8304
2192-8312
DOI:10.1007/8904_2011_92