Literature DB >> 17891542

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.

Yasushi Ishida1, Asako Ishimaru, Hisamichi Tauchi, Akiko Yamaguchi, Masayoshi Yokoyama, Kazuhiro Hiroi, Nobuaki Wakamatsu, Yasukazu Yamada.   

Abstract

We describe the case of a 1-year-old boy with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. At his first visit to the hospital, he was diagnosed with hyperuricemia and irreversible renal failure. The misssense mutation Asp185Gly (554A>G) was identified in exon 8 of his HPRT gene, and this mutation was inherited from the mother.

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Year:  2007        PMID： 17891542     DOI： 10.1007/s00431-007-0607-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  7 in total

1.  Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  W B Lorentz; B K Burton; A Trillo; M C Browning
Journal:  J Pediatr       Date:  1984-01       Impact factor: 4.406

Review 2.  The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

Authors:  H A Jinnah; L De Gregorio; J C Harris; W L Nyhan; J P O'Neill
Journal:  Mutat Res       Date:  2000-10       Impact factor: 2.433

3.  The spectrum of mutations causing HPRT deficiency: an update.

Authors:  H A Jinnah; J C Harris; W L Nyhan; J P O'Neill
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2004-10       Impact factor: 1.381

4.  Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.

Authors:  P C Holland; M J Dillon; J Pincott; H A Simmonds; T M Barratt
Journal:  Arch Dis Child       Date:  1983-10       Impact factor: 3.791

5.  Acute renal failure in an infant with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Authors:  A M Wingen; W Löffler; R Waldherr; K Schärer
Journal:  Proc Eur Dial Transplant Assoc Eur Ren Assoc       Date:  1985

6.  Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.

Authors:  Y Yamada; H Goto; K Suzumori; R Adachi; N Ogasawara
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

7.  Renal failure in infancy due to over-production of urate.

Authors:  J A Batch; R P Riek; R B Gordon; J R Burke; B T Emmerson
Journal:  Aust N Z J Med       Date:  1984-12
  7 in total
  1 in total

Review 1.  Genetic determinants of urolithiasis.

Authors:  Carla G Monico; Dawn S Milliner
Journal:  Nat Rev Nephrol       Date:  2011-12-20       Impact factor: 28.314
  1 in total

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