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Purine disorders:

Purine disorders Dr.Gogoi University of Fiji

Gout & hyperuricemia :

Gout & hyperuricemia

Gouti Tophi:

Gouti Tophi

Definition :

Definition The term gout describes a disease spectrum including hyperuricemia , recurrent attacks of acute arthritis associated with monosodium urate crystals in leukocytes found in synovial fluid, deposits of monosodium urate crystals in tissues ( tophi ), interstitial renal disease, and uric acid nephrolithiasis . A urate concentration greater than 7.0 mg/ dL is abnormal and associated with an increased risk for gout.

Pathophysiology :

Pathophysiology In humans, uric acid is the end product of the degradation of purines . It serves no known physiologic purpose and is regarded as a waste product. The size of the urate pool is increased several fold in individuals with gout. This excess accumulation may result from either overproduction or underexcretion .

Clinical presentation :

Clinical presentation Acute attacks of gouty arthritis are characterized by rapid onset of excruciating pain, swelling, and inflammation. The attack is typically monoarticular at first, most often affecting the first metatarsophalangeal joint ( podagra ), and then, in order of frequency, the insteps, ankles, heels, knees, wrists, fingers, and elbows. precipitated by stress, trauma, alcohol ingestion, infection, surgery

Diagnosis :

Diagnosis The definitive diagnosis is accomplished by aspiration of synovial fluid from the affected joint and identification of intracellular crystals of monosodium urate monohydrate in synovial fluid leukocytes.

Therapy :

Therapy Acute gout

Non-pharmacological treatment:

Non-pharmacological treatment Patients may be advised to reduce their intake of foods high in purines (e.g., organ meats), avoid alcohol, increase fluid intake, and lose weight if obese. Joint rest for 1 to 2 days should be encouraged, and local application of ice may be beneficial.

Treatment :

Treatment Prophylactic therapy for intercritical gout

Xanthine oxidase inhibitors :

Xanthine oxidase inhibitors Allopurinol and its major metabolite, Because of the long half-life of its metabolite, allopurinol can be given once daily orally. the major side effects of allopurinol are skin rash, urticaria , leukopenia, GI problems, headache, and increased frequency of acute gouty attacks with the initiation of therapy.

Lesch Nyhan syndrome:

Lesch N yhan syndrome deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) hyperuricemia and hyperuricosuria , associated with severe gout and kidney problems. Neurological signs include poor muscle control and moderate mental retardation self-mutilating behaviors:characterized by lip and finger biting. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs

PowerPoint Presentation:

Von Gierke disease- deficiency of the enzyme glucose-6-phosphatase results in increase Ribose5phosphate Adenosine deaminase deficiency Immunodeficiency state

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