Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure? A report of two cases in a family with an uncommon novel mutation

NDT Plus

Volumn 1, Issue 5, 2008, Pages 292-295

  Perruzza, Italia ^a   Di Pietro, Valentina ^b   Tavazzi, Barbara ^b   Lazzarino, Giuseppe ^c   Gamberini, Marco ^a   Barsotti, Paola ^d   Amorini, Angela Maria ^c   Giardina, Bruno ^b   Balducci, Alessandro ^a  

^a SAN GIOVANNI ADDOLORATA HOSPITAL   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

2,8 dihydroxyadenine (2,8 DHA); Adenine phosphoribosyltransferase (APRT) deficiency; Renal failure; Urolithiasis

Indexed keywords

ALLOPURINOL; CITRIC ACID; HYDROCHLOROTHIAZIDE;

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHRONIC KIDNEY FAILURE; CLINICAL FEATURE; ENZYME DEFICIENCY; GENE MUTATION; HEMODIALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTERSTITIAL NEPHRITIS; KIDNEY BIOPSY; MALE; NEPHROLITHIASIS; PRIORITY JOURNAL; UROLITHIASIS;

EID: 52449112172     PISSN: 17530784     EISSN: 17530792     Source Type: Journal    
DOI: 10.1093/ndtplus/sfn072     Document Type: Article

References (16)

1. Hidaka Y, Tarlè SA, Kelley WN et al. Nucleotide sequence of the human APRT gene. Nucleic Acids Res 1987; 15: 9086
2. Deng L, Yang M, Frund S et al. 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. Mol Genet Metab 2001; 72: 260-264
3. Di Pietro V, Perruzza I, Amorini AM et al. Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure. Clin Biochem 2007; 40: 73-80
4. Tavazzi B, Lazzarino G, Leone P et al. Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem 2005; 38: 997-1008
5. Evardsson V, Palsson R, Olaffsson I et al. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis 2001; 38: 473-480
6. Sahota A, Tischfield J, Kamatani N et al. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B, Childs B, eds. The Metabolic and Molecular Basis of Inherited Disease, 8th edn. New York: McGraw-Hill, 2001, 2571-2584
7. Fye KH, Sahota A, Hancock DC et al. Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. Arch Intern Med 1993; 153: 767-770
8. Ceballos-Picot I, Perignon JL, Hamet M et al. 2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease. Lancet 1992; 339: 1050-1051
9. Konishi N, Takeshita K, Yasui H. A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination. Nippon Jinzo Gakkai Shi 1994; 36: 1191-1195
10. Cartier P, Hamet M. Une novella maladie metabolique: le deficit complet en adeninephosphorybosyltransferase. Paris CR Acad Sci 1974; 279: 883-886
11. Johnson LA, Gordon RB, Emmerson BT. Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population. Biochem Genet 1977; 15: 265-272
12. Cassidy MD, McCulloch T, Fairbanks LD et al. Diagnosis of adenine phosphoribosyltransferase deficiency as underline cause of renal failure in a renal transplant recipient. Nephrol Dial Transplant 2004; 19: 736-738
13. Benedetto B, Madden R, Kurbanov A et al. Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction. Am J Kidney Dis 2001; 37: E37
14. Brown HA. Recurrence of 2,8-dihydroxyadenine tubulointerstitial lesions in a kidney transplant recipient with a primary presentation of chronic renal failure. Nephrol Dial Transplant 1998; 13: 998-1000
15. Cagné E, Deland E, Daudon M et al. Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant. Am J Kidney Dis 1994; 24: 104-107
16. Menardi C, Schneider R, Neuschmid-Kaspar F et al. Human APRT deficiency: identification for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair. Hum Mutat 1997; 10: 251-255