Journal ArticleDOI
The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Bryan T. Emmerson,L Thompson +1 more
TLDR
No significant correlation was found between the clinical severity of the condition and the enzyme activity in erythrocytes, and it is suggested that additional factors besides the actual level of HGPRTase activity present in red cells are important in determining the severity ofThe neurological lesions and of the urate abnormality in this condition.Abstract:
The spectrum of clinical manifestations of hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) deficiency is presented by reference to eight patients from five kindred. These patients illustrate the range of associated neurological findings, together with the variety of presentation and complications due to the associated over-production of urate. Such a study permits the development of a unifying concept between primary over-production of urate and the subsequent development of uric acid crystalluria and calculi, hyperuricaemia, gouty arthritis, and renal insufficiency. Comparison is also made between the clinical manifestations and the levels of HGPRTase activity assayed in red cell haemolysates. Although it might have been expected that the degree of enzyme deficiency would parallel the clinical manifestations, no significant correlation was found between the clinical severity of the condition and the enzyme activity in erythrocytes. It is suggested that additional factors besides the actual level of HGPRTase activity present in red cells are important in determining the severity of the neurological lesions and of the urate abnormality in this condition.read more
Citations
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British Society for Rheumatology and British Health Professionals in Rheumatology Guideline for the Management of Gout
K M Jordan,J. Stewart Cameron,Michael Snaith,Weiya Zhang,Michael Doherty,Jonathan Seckl,Aroon D. Hingorani,Richard Jaques +7 more
TL;DR: Evidence-based guidelines are needed for gout management and prevention based on expert consensus rather than research evidence and audits of practice suggest that treatment is very variable.
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The management of gout.
TL;DR: In patients with persistent hyperuricemia, regular medication should lower the serum urate concentration to an optimal level in order to prevent recurrence of attacks of gout.
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The management of gout
TL;DR: The continuing challenge is to educate patients about correctable factors and the importance of regular medication and ensure their compliance so that attacks of gout do not recur.
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The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
TL;DR: Though mutation analysis does not provide precise information for predicting disease severity, it continues to provide a valuable tool for genetic counseling in terms of confirmation of diagnoses, for identifying potential carriers, and for prenatal diagnosis.
Book ChapterDOI
Human Diseases Associated with Defective DNA Repair
TL;DR: This chapter discusses the possible roles that defective or altered DNA repair may play in a number of human diseases and the techniques that are used for examining repair defects in cells are quantitatively valid.
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