Calcium urolithiasis is often associated with increased intestinal absorption and urine excretion of calcium, and has been suggested to result from increased vitamin D production. The role of the enzyme 1 alpha-hydroxylase, the rate-limiting step in active vitamin D production, was evaluated in 36 families, including 28 sibships with at least a pair of affected sibs, using qualitative and quantitative trait linkage analyses. Sibs with a verified calcium urolithiasis passage (n = 117) had higher 24-h calciuria (P = 0.03), oxaluria (P = 0.02), fasting and postcalcium loading urine calcium/creatinine (Ca/cr) ratios (P = 0.008 and P = 0.002, respectively), and serum 1,25(OH)2 vitamin D levels (P = 0.02) compared with nonstone-forming sibs (n = 120). Markers from a 9-centiMorgan interval encompassing the VDD1 locus on chromosome 12q13-14 (putative 1 alpha-hydroxylase) were analyzed in 28 sibships (146 sib pairs) of single and recurrent stone formers and in 14 sibships (65 sib pairs) with recurrent-only (> or = 3 episodes) stone-forming sibs. Two-point and multipoint analyses did not reveal excess in alleles shared among affected sibs at the VDD1 locus. Linkage of stone formation to the VDD1 locus could be excluded, respectively, with a lambda d of 2.0 (single and recurrent stone formers) and 3.25 (recurrent stone formers). Quantitative trait analyses revealed no evidence for linkage to 24-h calciuria and oxaluria, serum 1,25(OH)2 vitamin D levels, and Ca/cr ratios. This study shows absence of linkage of the putative 1 alpha-hydroxylase locus to calcium stone formation or to quantitative traits associated with idiopathic hypercalciuria. In addition, there is coaggregation of calciuric and oxaluric phenotypes with stone formation.
Very few studies have evaluated both parathyroid hormone (PTH) and 25-hydroxyvitamin D [25(OH)D] and their effects on bone mass in children.
We studied the associations of serum 25(OH)D and intact PTH (iPTH) with bone mineral content (BMC) and bone mineral density (BMD) at different bone sites and the relation between serum 25(OH)D and iPTH in early pubertal and prepubertal Finnish girls.
The subjects were 10-12-y-old girls (n = 193) at Tanner stage 1 or 2, who reported a mean (+/- SD) dietary calcium intake of 733 +/- 288 mg/d. 25(OH)D, iPTH, tartrate-resistant acid phosphatase 5b (TRAP 5b), urinary calcium excretion, BMC, areal BMD, and volumetric BMD were assessed by using different methods.
Thirty-two percent of the girls were vitamin D deficient [serum 25(OH)D
AIMS: To elucidate bone mineral density (BMD) and bone turnover in an un-selected group of patients with Systemic Sclerosis (SSc) in national based registry. MATERIAL AND METHODS: All patients who have been diagnosed with SSc in Iceland were invited to participate in the study. Participants underwent standardized interview and delivered urine and blood samples for measurements of various bone metabolites (e.g. PTH, osteocalcin, Cross Laps, PINP, IGF-1, Cystatin-C and 25-OH-vitamin-D), before they underwent measurement of BMD with DEXA (QDR 4500 Elite). RESULTS: Twenty-four individuals, 20 female and four male, of 29 diagnosed patients with SSc in Iceland accepted to participate in the study (83%). The mean age was 60 +/- 15 years. Seventeen of 20 females were postmenopausal. Twelve patients had history of fractures. Only four patients were on treatment with bisphosphonate. All measured bone metabolites were in normal ranges, but U-calcium was in the lower ranges. According to DEXA, eight patients had osteopenia (T-value = -1.0 - -2.5) and three osteoporosis (T-value
The role of dietary fat in human blood pressure control was studied among 84 middle-aged subjects (mainly couples) in two semirural communities in North Karelia, Finland. The families were randomly allocated into two groups that, after a baseline period of 2 weeks, changed their diet for a 12-week intervention period so that the proportion of energy derived from fats was similarly reduced in both groups, from 38 to 24%, but the polyunsaturated/saturated fatty acid (P/S) ratio was increased--from 0.2 to 0.9 in group I and to 0.4 in group II. After the intervention period, both groups switched back to their usual diet for a period of 5 weeks. During the intervention period, total serum cholesterol was reduced by 16% in group I and 14% in group II. Mean body weight and urinary sodium, potassium, calcium, and magnesium excretion changes were small or nonexistent. Mean systolic blood pressure decreased 4 mm Hg in group I (P less than 0.01) and 3 mm Hg in group II (P less than 0.01), and mean diastolic blood pressure decreased 5 mm Hg (P less than 0.001) and 4 mm Hg (P less than 0.01), respectively. The reductions were reversed during the switch-back period (P less than 0.01). These results confirm previous findings of the blood-pressure-reducing effect of a low-fat/high-P/S diet. Although a number of possible confounding factors can be ruled out, the dietary constituent accounting for the blood pressure change cannot be ascertained definitely. The results showed no significant further blood pressure reduction with more than a moderately increased P/S ratio when the saturated fat intake was markedly reduced.
The paper deals with the influence of glutaminic acid on the functional activity of the sympatho-adrenal system and the concentration of calcium in urine under conditions of the alcoholic abstinence syndrome development. Changes in the functional activity of sympatho-adrenal system and in the concentration of calcium in the process of the abstinence syndrome development are shown to be of the phase character. It is established that in the period of the developed abstinence syndrome glutaminic acid produces a normalizing action on the excretion of adrenaline and dopamine and also facilitates a decrease in the level of calcium in urine.
All children less than 18 years of age who were diagnosed with a first episode of kidney stones at pediatric referral centers in Iceland during the years 1995-2000 were studied retrospectively. The diagnosis was based on clinical features and results of imaging studies. Patients were invited for evaluation at the end of the study period. Twenty-six patients (15 females, 11 males), median age 9.4 (range 0.2-14.9) years, experienced 34 episodes of kidney stones. The annual incidence was 5.6 and 6.3 per 100,000 children less than 18 and 16 years of age, respectively. Abdominal pain was the most common symptom (N=17; 69%) and urinalysis revealed hematuria in 21 patients (80.8%), sterile pyuria in 17 (65%), and 2,8-dihydroxyadeninuria in two. Six patients (23%) had positive urine cultures at the time of diagnosis and five (20%) had urinary tract anomalies. Family history of kidney stones was positive in one third of patients. Metabolic risk factors for stone formation were identified in 22 of 23 patients (96%) who underwent evaluation. Hypercalciuria, the most common metabolic risk factor, was identified in 18 patients (78%). Stones passed spontaneously in nine patients (35%) and six patients had recurrent stone episodes. The incidence of kidney stones in Icelandic children is high compared with other Western populations, affecting females more than males. Underlying metabolic risk factors were identified in most patients.
Increased urinary calcium excretion commonly is found in patients with hypertension and kidney stone disease (KSD). This study investigated the aggregation of hypertension and KSD in families of patients with KSD and hypercalciuria and explored whether obesity, excessive weight gain, and diabetes, commonly related conditions, also aggregate in these families. Consecutive patients with KSD, aged 18 to 50 yr, were recruited from a population-based Kidney Stone Center, and a 24-h urine sample was collected. The first-degree relatives of eligible patients (n = 333) and their spouse were interviewed by telephone to collect demographic and health information. Familial aggregation was assessed using generalized estimating equations. Multivariate-adjusted odds ratios (OR) revealed significant associations between hypercalciuria in patients and hypertension (OR 2.9; 95% confidence interval 1.4 to 6.2) and KSD (OR 1.9; 95% confidence interval 1.03 to 3.5) in first-degree relatives, specifically in siblings. No significant associations were found in parents or spouses or in patients with hyperuricosuria. Similarly, no aggregation with other conditions was observed. In an independent study of siblings of hypercalciuric patients with KSD, the adjusted mean fasting urinary calcium/creatinine ratio was significantly higher in the hypertensive siblings compared with normotensive siblings (0.60 +/- 0.32 versus 0.46 +/- 0.28 mmol/mmol; P