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Literature DB >> 24326440

Late diagnosis of Lesch-Nyhan disease variant.

Brian Percy Doucet¹, Dev Jegatheesan, John Burke.

Abstract

A 30-year-old man was referred for investigation and management of hyperuricaemia. History included recurrent nephrolithiasis and chronic gout with poor response to medical management. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity was investigated and found to be deficient confirming the diagnosis of Lesch-Nyhan disease. Hyperuricaemia was treated with allopurinol. To prevent nephrolithiasis, the patient was instructed to avoid dehydration and aim for a minimum urine output of 2 L/day. Urinary alkalinisation with potassium citrate was started. The patient was referred for genetic counselling. This case discusses the genetics, pathophysiology, clinical manifestations, diagnosis and management of HGPRT deficiency.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2013 PMID： 24326440 PMCID： PMC3863095 DOI： 10.1136/bcr-2013-201997

Source DB: PubMed Journal: BMJ Case Rep ISSN： 1757-790X

10 in total

1. British Society for Rheumatology and British Health Professionals in Rheumatology guideline for the management of gout.

Authors: Kelsey M Jordan; J Stewart Cameron; Michael Snaith; Weiya Zhang; Michael Doherty; Jonathan Seckl; Aroon Hingorani; Richard Jaques; George Nuki
Journal: Rheumatology (Oxford) Date: 2007-05-23 Impact factor: 7.580

2. Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.

Authors: R J Torres; C Prior; J G Puig
Journal: Nucleosides Nucleotides Nucleic Acids Date: 2006 Impact factor: 1.381

3. Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Authors: Radhika Sampat; Rong Fu; Laura E Larovere; Rosa J Torres; Irene Ceballos-Picot; Michel Fischbach; Raquel de Kremer; David J Schretlen; Juan Garcia Puig; H A Jinnah
Journal: Hum Genet Date: 2010-10-28 Impact factor: 4.132

Review 4. 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 5. Lesch-Nyhan disease and the basal ganglia.

Authors: J E Visser; P R Bär; H A Jinnah
Journal: Brain Res Brain Res Rev Date: 2000-04

6. Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.

Authors: Paola de Gemmis; Laura Anesi; Elisa Lorenzetto; Ilenia Gioachini; Elisabetta Fortunati; Gessica Zandonà; Erika Fanin; Lynette Fairbanks; Gilberto Andrighetto; Pietro Parmigiani; Diego Dolcetta; William L Nyhan; Uros Hladnik
Journal: Mutat Res Date: 2010-07-16 Impact factor: 2.433

Review 7. Attenuated variants of Lesch-Nyhan disease.

Authors: H A Jinnah; Irene Ceballos-Picot; Rosa J Torres; Jasper E Visser; David J Schretlen; Alfonso Verdu; Laura E Laróvere; Chung-Jen Chen; Antonello Cossu; Chien-Hui Wu; Radhika Sampat; Shun-Jen Chang; Raquel Dodelson de Kremer; William Nyhan; James C Harris; Stephen G Reich; Juan G Puig
Journal: Brain Date: 2010-02-22 Impact factor: 13.501

1 in total

1. 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