[Changes in bone metabolism in girls with Turner's syndrome]. / Zmeny kostního metabolismu u dívek s Turnerovým syndromem.

BACKGROUND: Data of the prevalence of osteoporosis in girls with Turner's syndrome are not uniform, and its causes have not been fully elucidated. Information on the mineralization of osseous tissue is controversial. The objective of the present work was to examine some more recent indicators of bone metabolism in a group of girls with Turner's syndrome. METHODS AND RESULTS: A group of girls aged 4-20 years was examined where genetic examination had revealed karyotype 45 X (7 patients) or mosaic 45 X (46 XX) (9 patients). On X-ray examination osteoporosis was found in 71%, densitometric evidence of reduced bone density was provided in 2% of the examined patients. As to biochemical osteologically oriented examinations, a significantly reduced osteocalcin value was found (1.18 +/- 0.42 mug/l, as compared with 11.38 +/- 0.03 in controls, p < 0.001), reduced values of alkaline phosphatase (2.67 mukat/l as compared with 8.46 +/- 4.16 mukat/l in controls, p < 0.005) and reduced values of the bone isoenzyme of alkaline phosphatase (1.47 mukat/l as compared with 6.04 +/- 0.27 in controls, p < 0.001). The values of calcemia (2.63 / 0.13 mmol/l) and phosphataemia (1.36 +/- 0.25 mmol/l) did not differ significantly from values recorded in controls. To six patients the authors administered for a period of three months 1,25(OH)2D3, 0.25 mg on alternate days. The osteocalcin values rose to 5.27 +/- 3.14 micrograms/l, similarly as alkaline phosphatase (6.32 +/- 1.83 mukat/l) and the bone isoenzyme of alkaline phosphatase (2.42 +/- 1.95 mukat/l), not evaluated statistically because of the small number of patients. CONCLUSIONS: In girl with Turner's syndrome a reduced bone density was revealed in 25%, reduced values of osteocalcin, alkaline phosphatase and its bone isoenzyme indicate a reduced osteoblast activity. It appears that administration of 1,25(OH)2D3 can have a favourable effect.

[Are there abnormalities of parathormone, calcium and phosphorus metabolism in hypertrophic cardiomyopathy?]. / Lze nalézt u hypertrofických kardiomyopatií abnormality parathormonu, metabolismu vápníku a fosforu?

The importance of calcium and phosphorus metabolism for the development of hypertrophic cardiomyopathies is still obscure. Therefore 52 patients with hypertrophic cardiomyopathy were subjected to detailed cardiological and laboratory examinations. Twenty-five age matched healthy subjects served as controls. The following indicators were assessed: calcium and its ionized fraction, phosphorus, chlorides and magnesium in serum and 24 h urine, as well as AST, ALT, ALP, ACP, urea, creatinine, protein electrophoresis (to check calcium values with regard to serum albumins), endogenous creatinine clearance, Palmer's chloride phosphate index and Nordin's index. In addition to tubular phosphate reabsorption, the renal phosphate threshold was assessed and finally the parathormone blood level by the RIA method. In patients with hypertrophic cardiomyopathy a significant increase of the parathormone level was found--in a total of seven patients with advanced myocardial hypertrophy (more than 30 mm). There were no significant differences in the remaining parameters. It may thus be admitted that in some instances the increased parathormone level may cause an increase of the already existing myocardial hypertrophy. However, in the broad spectrum of patients with hypertrophic cardiomyopathy it is not suited for explaining morphological findings.