Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a retrospective study, 760 Saudi patients with urolithiasis were epidemiologically and metabolically studied (41% were from the Central region, 32% South, 14% West, 9% North, and 1% East; the remaining 3% were Saudi but of unknown region). The male to female ratio was 5:1; 87 percent of the patients were aged thirty to sixty years and 11 patients were under age fourteen. There was no clear relation of stone formation to occupation. Sixty-nine percent of calculi were renal, 29 percent ureteric, and only 3 percent were bladder calculi. Two hundred seventy-eight operative procedures were done (36.5% of all patients), including pyelolithotomy, nephrolithotomy, ureterolithotomy, ESWL, cystolithotomy, and extractions by basket. Infection was a rarity (6%) and urinary schistosomiasis was found in 33 patients (4.3%), 24 of whom were from a schistosoma-infested region. Raised serum calcium was found in only 5.7 percent and raised serum urate in 13 percent. Increased urinary excretion of urate was found in 60 percent and hypercalciuria in 9 percent. Seventy-six percent of stones analyzed (239) were calcium oxalate, 20.5 percent urate, and 3.3 percent phosphate.
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PMID:Urolithiasis in Saudi Arabia. 229 13

One hundred and twenty-five cases of biopsy proven sarcoidosis have been found during a prospective study since 1972 in Calcutta, Eastern India. The presentation, clinical course and radiological features are considerably different from those seen in the West. Elderly males over 40 years are more prone. Low grade fever, cough, dyspnoea, arthralgia are common symptoms while hepatosplenomegaly, hypercalcaemia, hypercalciuria and hyperglobulinaemia are frequent signs. Nearly 60% are MT negative (up to 100 TU). Serum angiotensin converting enzyme and high lymphocyte count in bronchoalveolar lavage fluid are usual findings in active disease. Chest X-ray usually shows mottled opacities or fibrosis in 60% cases. Clinico-radiological dissociation (i.e. remarkable dissociation between the alarming-looking chest X-ray and scanty physical signs and symptoms in chest) was a very remarkable feature in this series. Treatment with oral steroid or steroid aerosol with oxyphenbutazone and chloroquine give equally good results initially. However, most cases tend to relapse inspite of adequate initial treatment. The pattern of the disease is similar almost all over India with minor regional differences like more erythema nodosum and eye involvement in Chandigarh in the extreme north (which could also have been due to case selection). The pattern from Northern India (Delhi) and Western India is nearly similar to our figures.
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PMID:Sarcoidosis in India: a review of 125 biopsy-proven cases from eastern India. 234 18

Extensive experimental evidence has established a significant role of calciferol in the maintenance of normal calcium homeostasis. Present knowledge indicates that vitamin D(3) must first be converted to 25-OH-D(3) and then to 1,25(OH)(2)D(3), the most active known form of the steroid. Many of the factors regulating the rate of production of this last steroid from its precurser have been evaluated, and the concept that vitamin D functions as a steroid hormone seems to be well established. Deranged action of calciferol, caused by impaired metabolism of the steroid or through altered sensitivity of target tissues, may be involved in the pathophysiology of several disease states with abnormal calcium metabolism. It is noted that liver disease, osteomalacia due to anticonvulsant therapy, chronic renal failure, hypophosphatemic rickets, hypoparathyroidism, hyperparathyroidism, sarcoidosis and idiopathic hypercalciuria have possible relation to alterations in metabolism or action of vitamin D. The future clinical availability of 1,25(OH)(2)D(3) and other analogs of this steroid may offer potential therapeutic benefit in the treatment of certain of the disease entities discussed.
West J Med 1974 Jul
PMID:Metabolism and action of the hormone vitamin D. Its relation to diseases of calcium homeostasis. 436 34

The prevalence of kidney stones has steadily risen during this century; passage of a calculus and a positive family history increase the probability of recurrence. Findings from recent studies on the cause of renal calculi have stressed crystallization and crystal aggregation of stone minerals from supersaturated urine, rather than excessive organic matrix. Absence of normal urine inhibitors of calcium salts is also stressed. Formation of calcium oxalate stones is the major problem. Therapy with decreased calcium and oxalate intake, thiazides, phosphate salts and allopurinol in various combinations has substantially decreased the prevalence of recurrent stones. The rationale for the use of allopurinol is that uric acid salts enhance the tendency for calcium oxalate to crystallize from supersaturated urine. The hypercalciuria seen in 30 percent to 40 percent of patients with oxalate stones is usually caused by intestinal hyperabsorption of calcium. Although patients with uric acid calculi constitute only a small fraction of those in whom stones form, they represent a group in whom good medical therapy, based on sound physiologic principles, has proved extremely successful. Renal tubular syndromes lead to nephrocalcinosis and lithiasis through hypercalciuria, alkaline urine and hypocitraturia, the latter an inhibitor of calcium salt precipitation. Recent advances in surgical techniques are discussed, including the rationale for removing staghorn calculi. The ileal ureter and coagulum pyelolithotomy deserve special emphasis.
West J Med 1980 Apr
PMID:Kidney stones. 738 35

The hypothesis that mild hyperoxaluria is more important than hypercalciuria in the pathogenesis of urolithiasis is re-examined in the light of new evidence. Small increments in urinary oxalate in the normal to high-normal range are much more critical than similar rises in urinary calcium for increasing the relative supersaturation of urine with respect to calcium oxalate, the oxalate/calcium ratio in urine, the total volume of calcium oxalate crystals excreted, the proportion of abnormally large crystals and aggregates of calcium oxalate and the severity of the disorder as defined by the recurrence rate of stone-formation. Data from the Arabian Peninsula, where the prevalence of calcium-containing stones is considerably higher than in the West, have shown that this occurs in spite of the almost complete absence of hypercalciuria. On the other hand, there is a strong association between stone-formation and the occurrence of mild hyperoxaluria. The life-time expectancy of stone-formation in men from various countries is strongly correlated with the average daily excretion of oxalate in the urine of the normal men in these countries. This relationship extends to include patients with enteric and hereditary hyperoxaluria. There is no such relationship, however, between the life-time expectancy of stones and urinary calcium excretion in the same populations. Studies on the regulation of urinary oxalate indicate that it is largely controlled by the quantity of "free" dietary oxalate available for absorption in the lower intestine. This can be calculated from the intakes of calcium and oxalate and the urinary excretion of calcium.
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PMID:Importance of mild hyperoxaluria in the pathogenesis of urolithiasis--new evidence from studies in the Arabian peninsula. 831 8

From an association of nearly 50 years, the author had diagnosed biopsy proven 200 cases of sarcoidosis in Eastern India during the past three decades. It appears that most of these cases follow a distinct clinical pattern and presentation. The clinical course and prognosis differ considerably from that seen in Caucasians, Afro-Americans, South-African Bantus and Japanese. Males, above 40 years, coming largely from atopic and wealthier section of society (a particular business community with physicians, nurses with their families and other professionals). Patients present with constitutional symptoms (97%) like slow unrecognized fever with little malaise (fever-malaise dissociation in 70%), arthralgia (61%) or lone-myalgia (13%), appreciable loss of weight (33%), irritability, anorexia, respiratory symptoms (93%) like cough, dyspnea, etc., hepatomegaly (43.5%), splenomegaly (32.5%), lymphadenopathy (22%) with raised ESR (91%), hypergammaglobulinaemia (41.5%), hypercalciuria (40.5%), raised serum angiotensin converting enzyme (SACE) in 70.5% advance disease in chest radiograph (68%), positive 67-gallium scan and clinico-radiological dissociation in 81% (alarming looking chest radiograph with few physical signs). Course and prognosis also differ from the West. A different treatment schedule, avoiding oral prednisolone, has been found quite effective.
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PMID:Sarcoidosis: a journey through 50 years. 1243 38

We present a case of bone marrow granulomas in a 64-year-old West Indian man who presented with severe leucopenia, anaemia, thrombocytopenia, hepatosplenomegaly, hypercalcaemia, hypercalciuria, elevated angiotensin converting enzyme level and reticulo-nodular shadows on chest X-ray. Bone marrow biopsy revealed numerous non-caseating epithelioid granulomas. A diagnosis of sarcoidosis was made and he was treated with prednisolone 60 mg daily for four weeks and the dose was subsequently reduced to 30 mg daily. Eight months follow-up revealed persistent pancytopenia. Bone marrow granulomas are rare and, when they occur, sarcoidosis is an uncommon aetiology. This case illustrates that severe leucopenia may occur in sarcoidosis and may present therapeutic difficulties.
West Indian Med J 2003 Mar
PMID:Severe refractory sarcoidosis in a 64-year-old man with persistent leucopenia. 1280 60

Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit. D". All persons were found to carry mutations in CYP24A1 or SLC34A1, nine and two persons respectively. The changes were biallelic, with one exception. Incidence of IIH in Polish population estimated on the basis of allele frequency of recurrent p.R396W CYP24A1 variant, is 1:32,465 births. It indicates that at least a thousand homozygotes and compound heterozygotes with risk of IIH live in the country. Differences in mechanism of developing hypercalcemia indicate that its prevention may vary in both IIH defects. Theoretically, vit. D restriction is a first indication for CYP24A1 defect (which disturbs 1,25(OH)2D degradation) and phosphate supplementation for SLC34A1 defect (which impairs renal phosphate transport). In conclusion, we suggest that molecular testing for CYP24A1 and SLC34A1 mutations should be performed in each case of idiopathic hypercalcemia/hypercalciuria, both in children and adults, to determine the proper way for acute treatment and complications prevention.
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PMID:Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases. 2847 Mar 90