Literature DB >> 17701224

Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.

Ivana Pela1, Maria Alice Donati, Elena Procopio, Patrizio Fiorini.   

Abstract

Acute renal failure developed during the first 3 days after birth in a newborn subsequently diagnosed with hypoxanthine-guanine-phosphoribosyl-transferase (HPRT) deficiency. Fluid infusion and allopurinol therapy normalised renal function and serum uric acid levels. Only a few cases of acute renal failure due to acute hyperuricemic nephropathy related to HPRT deficiency have previously been reported in infants, and there are no reported cases in newborns as young as 3 days old.

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Year:  2007        PMID: 17701224     DOI: 10.1007/s00467-007-0588-x

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  15 in total

1.  Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.

Authors:  Przemysław Sikora; Monika Pijanowska; Marek Majewski; Beata Bieniaś; Halina Borzecka; Małgorzata Zajczkowska
Journal:  Pediatr Nephrol       Date:  2006-05-24       Impact factor: 3.714

2.  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

3.  Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.

Authors:  Sarah Cherian; Charles H Crompton
Journal:  Pediatr Nephrol       Date:  2005-10-21       Impact factor: 3.714

4.  Lesch-Nyhan syndrome presenting as acute renal failure secondary to obstructive uropathy.

Authors:  M Ankem; D B Glazier; J G Barone
Journal:  Urology       Date:  2000-12-20       Impact factor: 2.649

Review 5.  Abnormal serum uric acid levels in children.

Authors:  W D Wilcox
Journal:  J Pediatr       Date:  1996-06       Impact factor: 4.406

6.  Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.

Authors:  A Andrés; M Praga; L M Ruilope; J M Martínez; V G Millet; I Bello; J L Rodicio
Journal:  Nephron       Date:  1987       Impact factor: 2.847

7.  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

8.  Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy.

Authors:  E Kerem; D Branski; E Gross-Kieselstein; H Hurvitz; A Abrahamov; Y Pollack
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

9.  Purine enzyme defects as a cause of acute renal failure in childhood.

Authors:  H A Simmonds; J S Cameron; T M Barratt; M J Dillon; S R Meadow; R S Trompeter
Journal:  Pediatr Nephrol       Date:  1989-10       Impact factor: 3.714

Review 10.  Renal hypouricemia: prevention of exercise-induced acute renal failure and a review of the literature.

Authors:  J Y Yeun; J A Hasbargen
Journal:  Am J Kidney Dis       Date:  1995-06       Impact factor: 8.860

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  5 in total

1.  An unusual case of renal failure: Answers.

Authors:  Alison Ma; Rukshana Shroff; Stephen D Marks
Journal:  Pediatr Nephrol       Date:  2016-01-11       Impact factor: 3.714

2.  Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers.

Authors:  Natasha Ng; Amrit Kaur; Mohan Shenoy
Journal:  Pediatr Nephrol       Date:  2018-08-15       Impact factor: 3.714

3.  Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant.

Authors:  Rashi Singal; Sriram Krishnamurthy; Parameswaran Narayanan; Nachiappa Ganesh Rajesh; Bharat Choudhary; Gabriella Jacomelli; Vanna Micheli
Journal:  Clin Exp Nephrol       Date:  2011-09-09       Impact factor: 2.801

4.  Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report.

Authors:  Cahyani Gita Ambarsari; Daffodilone Cahyadi; Lenny Sari; Oryza Satria; Felly Sahli; Thyrza Laudamy Darmadi; Agustina Kadaristiana
Journal:  Ren Fail       Date:  2020-11       Impact factor: 2.606

5.  Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients.

Authors:  Lu Li; Xiaohui Qiao; Fei Liu; Jingjing Wang; Huijun Shen; Haidong Fu; Jian-Hua Mao
Journal:  Front Genet       Date:  2022-04-26       Impact factor: 4.772

  5 in total

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