Literature DB >> 21331772

Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.

Mi Mi Oh1, Byeong Kuk Ham, Seok Ho Kang, Jae Hyun Bae, Je Jong Kim, Ki Hwan Yoo, Duck Ki Yoon, Du Geon Moon.   

Abstract

Lesch-Nyhan syndrome is a rare sex-linked disorder of purine metabolism that is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene which causes marked hyperuricemia and hyperuricosuria, with signs of gouty arthritis and uric acid stone disease in early childhood. We report a case of renal pelvis calculi which was dissolved within 10 days of urine alkalinization and hydration.

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Year:  2011        PMID: 21331772     DOI: 10.1007/s00240-011-0364-z

Source DB:  PubMed          Journal:  Urol Res        ISSN: 0300-5623


  9 in total

1.  Lesch-Nyhan syndrome. Management and treatment.

Authors:  J E Seegmiller
Journal:  Fed Proc       Date:  1968 Jul-Aug

2.  Serial renal sonographic evaluation of patients with Lesch-Nyhan syndrome.

Authors:  D L Rosenfeld; M P Preston; K Salvaggi-Fadden
Journal:  Pediatr Radiol       Date:  1994

3.  Dissolution of uric acid calculi with systemic alkalization.

Authors:  E D Kursh; M I Resnick
Journal:  J Urol       Date:  1984-08       Impact factor: 7.450

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

5.  Utility of oral dissolution therapy in the management of referred patients with secondarily treated uric acid stones.

Authors:  Michael E Moran; Harrison M Abrahams; David E Burday; Tricia D Greene
Journal:  Urology       Date:  2002-02       Impact factor: 2.649

Review 6.  Gout, uric acid and purine metabolism in paediatric nephrology.

Authors:  J S Cameron; F Moro; H A Simmonds
Journal:  Pediatr Nephrol       Date:  1993-02       Impact factor: 3.714

7.  Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism.

Authors:  E A Jenkins; R J Hallett; R G Hull
Journal:  Br J Rheumatol       Date:  1994-04

Review 8.  Prevention of stone disease.

Authors:  M Porena; P Guiggi; C Micheli
Journal:  Urol Int       Date:  2007       Impact factor: 2.089

Review 9.  Nephrolithiasis related to inborn metabolic diseases.

Authors:  Pierre Cochat; Valérie Pichault; Justine Bacchetta; Laurence Dubourg; Jean-François Sabot; Christine Saban; Michel Daudon; Aurélia Liutkus
Journal:  Pediatr Nephrol       Date:  2009-01-21       Impact factor: 3.714

  9 in total
  4 in total

1.  Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Authors:  Ja Hyang Cho; Jin-Ho Choi; Sun Hee Heo; Gu-Hwan Kim; Mi-Sun Yum; Beom Hee Lee; Han-Wook Yoo
Journal:  Metab Brain Dis       Date:  2019-05-25       Impact factor: 3.584

Review 2.  Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.

Authors:  Rosa J Torres; Juan G Puig; H A Jinnah
Journal:  Curr Rheumatol Rep       Date:  2012-04       Impact factor: 4.592

Review 3.  Drug-Induced Kidney Stones and Crystalline Nephropathy: Pathophysiology, Prevention and Treatment.

Authors:  Michel Daudon; Vincent Frochot; Dominique Bazin; Paul Jungers
Journal:  Drugs       Date:  2018-02       Impact factor: 9.546

Review 4.  Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.

Authors:  Rong Fu; Chung-Jen Chen; H A Jinnah
Journal:  Mol Genet Metab       Date:  2014-05-28       Impact factor: 4.797

  4 in total

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