Presentation
We aimed to outline the clinical presentation and natural history of HU not only in children with hematuria, but also in those with dysuria and/or recurrent abdominal/flank pain and a family history of urolithiasis. [ncbi.nlm.nih.gov]
Background Familial persistent microhematuria with normal renal function is the most common presentation of thin basement membrane nephropathy (TBMN). Gross hematuria episodes and loin pain attacks are other manifestations of the disease. [kidney-international.org]
Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. [books.google.com]
We aimed to outline the clinical presentation and natural history of HU not only in children with hematuria, but also in those with dysuria and/or recurrent abdominal/flank pain and a family history of urolithiasis. Study Design. [pediatrics.aappublications.org]
Psychiatrical
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Self-Mutilation
Hereditary disorders of purine metabolism with complete deficiency of hypoxanthine phosphoribosyl transferase (HPRT) result in the Lesch Nyhan syndrome, which consists of hyperuricemia, mental retardation, choreoathetosis, and self mutilation. [2] The [sjkdt.org]
Urogenital
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Penile Pain
To our knowledge, the vaginal itching and penile pain were not previously described. Family history was positive for stones and/or gout in 62.5%. [sjkdt.org]
Workup
Serum
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Uric Acid Decreased
Mean urinary uric acid decreased by over 300 mg/24 h at 3 months after entry and finally decreased to over 400 mg/24 h from baseline at 24 months post entry. [ncbi.nlm.nih.gov]
Treatment
The following treatments were utilized: restricted purine diet (13%), allopurinol (4%) and potassium citrate (1%). No specific treatment was given to 82% of the patients. Therapy normalized uricosuria with resolution of hematuria over 6-12 months. [ncbi.nlm.nih.gov]
In that period, medicine has experienced a real revolution, characterized by minimally invasive treatments, improvement of the quality of life, and cost-effectiveness in treatment outcomes. [books.google.com]
Has a currently accepted medical use in treatment in the United States or a currently accepted medical use with severe restrictions. [drugs.com]
Prognosis
Disease and Nutrient Intake in Italy 749 The Significance of Annual Rhythms for the Excretion of Lithogenic 757 The Effect of Fasting on Urinary Stone Risk 765 Stone Formers in Saudi Arabia 769 Statistics of Stone Analysis in Childhood Urolithiasis 777 Prognosis [books.google.com]
Prognosis The prognoses of the familial and genetic forms depend on the primary disease and associated abnormalities. With appropriate diagnosis and treatment, most patients survive with minimal long-term morbidity. [emedicine.com]
Prognosis The prognosis is uncertain in the severe form of the disease. Severe gout can lead to renal impairment, if not properly treated. The documents contained in this web site are presented for information purposes only. [orpha.net]
Etiology
Abstract This review evaluates the epidemiologic, clinical and experimental evidence for an etiological link between urinary uric acid and the propensity to develop calcium oxalate calculi. [ncbi.nlm.nih.gov]
Walker BR Alexander F Uric acid excretion in sickle cell anemia.JAMA. 1971; 215: 255 Diamond H Sharon E Holden D Cacatian A Renal handling of uric acid in sickle cell anemia.Adv Exp Med Biol. 1974; 41B: 759 Wyngaarden JB Hollander JL McCarty Jr, DJ The etiology [amjmed.com]
epidemiology, etiology, physiopathology, urine} } [bib.irb.hr]
Epidemiology
Abstract This review evaluates the epidemiologic, clinical and experimental evidence for an etiological link between urinary uric acid and the propensity to develop calcium oxalate calculi. [ncbi.nlm.nih.gov]
Introduction & Objective: The prevalence of urolithiasis, due to different epidemiologic factors such as hypercalcuria and hyperuricosuria, was reported to be 3% to 4%. [sid.ir]
The role of hyperuricosuria in promoting calcium stones is controversial with only some but not all epidemiologic studies demonstrating associations between increasing urinary uric acid excretion and calcium stone disease. [cjasn.asnjournals.org]
To read this article in full you will need to make a payment References Tiebosch AT Wolters J Frederik P van der Wiel TW Zeppenfeldt E van Breda Vriesman PJ Epidemiology of idiopathic glomerular diseases: A prospective study.Kidney Int. 1987; 32: 112- [ajkd.org]
Pathophysiology
Therefore, an understanding of the pathophysiology of uric acid–related nephrolithiasis is important for a cost-effective treatment approach. In patients with hyperuricosuria, dietary purine restriction is the initial treatment. [emedicine.com]
PAK Major progress has been made in the pathophysiologic elucidation and management of nephrolithiasis during the past two decades. [books.google.com]
Molecular and Systemic Pathophysiology Uric acid is produced in the liver and intestinal mucosa as the end product of purine nucleotide degradation. Both endogenous and dietary purines contribute significantly to daily uric acid production. [link.springer.com]
Prevention
A randomized, controlled trial of allopurinol in patients with hyperuricosuria and normocalciuria was also effective in preventing recurrent stones. [ncbi.nlm.nih.gov]