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Biomedical subjects

L Catizone

Publications and source records attributed to L Catizone.

At least 37 records · Page 2Linked to original sources

A second genetic locus for autosomal dominant polycystic kidney disease.

Hitherto, mutations that lead to autosomal dominant adult-type polycystic kidney disease have been found to be linked to the alpha-globin genes on the short arm of chromosome 16. In an Italian family, absence of linkage between the disease mutation and alpha-globin indicates that the condition can be caused by mutations in a second gene. The clinical features of the disease in this Italian family are indistinguishable from those found in the "linked" families. The finding that there are two polycystic kidney disease genes means that linkage must be demonstrated independently in each family before predictive tests with DNA probes can be used reliably.

Adult↗

An unusual manifestation of renal osteodystrophy.

Besides the more frequent aspects, an unusual manifestation of renal osteodystrophy occurred in a 19-year-old man on regular hemodialysis treatment. About 6 years after the start of hemodialysis, the patient, who had severe osteodystrophy, presented a brown tumor, localized to the jaw, which caused a serious deformity of the face. Pharmacological treatment for hyperparathyroidism did not reduce the volume of the mass. Only total surgical removal gave long-lasting success. Brown tumor is an unusual but serious complication of renal bone disease which can be treated successfully by surgical removal of the tumoral mass and by pharmacological treatment for hyperparathyroidism.

Adult↗

Renal osteodystrophy in CAPD patients.

To assess the influence of continuous ambulatory peritoneal dialysis (CAPD) on the evolution of renal osteodystrophy, we studied 36 adult patients with end-stage renal failure before starting dialysis and after 7-30 months. 17 patients (12 males and 5 females) were treated by CAPD as first treatment and 19 (14 males and 5 females) received maintenance hemodialysis. The two groups were age- and sex-matched and no patient received vitamin D. All patients had adequate clinical and metabolic follow-up with a radiological survey and quantitative bone histology at the start of dialysis and at the end of the study. Serum phosphate concentrations were much easier to control in CAPD than in hemodialysis patients. There was no difference in the evolutive pattern of vascular and periarticular calcifications in the two groups. The 25-hydroxyvitamin D3 levels were frequently lower in CAPD than in hemodialysis patients. In some CAPD patients, there was a significant loss of trabecular bone volume at the end of the study. The radiological and histological appearances of secondary hyperparathyroidism improved or seemed to worsen to a lesser degree in CAPD compared to hemodialysis patients.

Adult↗

[Prevention and clinical course of polycystic kidney disease in adults. Examination and case report of 134 patients].

Adult polycystic kidney disease is inherited in an autosomal dominant fashion and it ranks third as the cause of end-stage renal disease, with 9% of patients in dialysis treatment. It is possible to achieve an effective primary or secondary preventive action because of its clinical, evolutive and hereditary features. We studied 134 patients with different degrees of renal function, considering the beginning and the evolution of the disease. The collected data were compared with other reports. Furthermore the finding of cysts in organs other than the kidney, the coexistence of intracranial aneurysms, high blood pressure and pregnancy were examined. We report a study carried out on 17 families of patients in hemodialysis because of MPRA, which included 118 subjects. We were only able to examine 40 adults (34%) completely and among these five patients were discovered to have MPRA. For 29 of the subjects (41%) didn't complete the examinations or refused further investigations. The contemporary presence of suggestive family history and data obtained by urography, nephrotomography, nephrosonography and the study of renal function permit a reliable diagnosis. The incidence of the disease could only be reduced by a constant prevention, but there are considerable difficulties caused by the little attention given to the disease by the medical class and people in general.

Adolescent↗

Therapeutic effects of 25-hydroxycholecalciferol and sodium etidronate on renal osteodystrophy.

The effects of long-term treatment with 25-hydroxycholecalciferol (25OHD3) and disodium ethane-1-hydroxydiphosphonate, or 25OHD3 alone on biochemical parameters, and radiographic and quantitative histomorphometry of bone tissue were evaluated in 17 dialysis patients. They all displayed evidence of bone disease consisting of osteitis fibrosa and defective mineralization of varying degree and predominance. 100 micrograms/day of 25OHD3 significantly improved the state of bone mineralization in many patients with a pronounced fall in the osteoid volume and surface and produced a small reduction in the active resorption surface. Serum parathyroid hormone (iPTH) and alkaline phosphatase levels decreased in some patients. The combination of 25OHD3 with EHDP caused the healing of bone mineralization as did 25OHD3 alone and produced a significant fall in serum alkaline phosphatase and iPTH. The mean magnitude of the reduction in iPTH was higher in patients treated with 25OHD3 and EHDP than with 25OHD3 alone. Treatment with 25OHD3 and EHDP seems more effective for the improvement of osteitis fibrosa than is 25OHD3 alone.

Adult↗

Influence of ultrafiltration on plasma renin activity and adrenergic system.

The influence of efficient ultrafiltration without dialysis fluid was compared to the standard dialysis technique in two groups of 4 patients with chronic renal failure on maintenance haemodialysis. Supine plasma renin activity (PRA), plasma concentration of noradrenaline (NA), and adrenaline (A) and the Valsalva manoeuvre were determined before and after the period of ultrafiltration at the beginning and at the end of the experiment. The behaviour of these parameters was related to changes of blood pressure and body weight. The rapid weight loss was well tolerated during ultrafiltration only, with a significant increase of plasma catecholamines concentration; in contrast, patients treated with ultrafiltration and dialysis showed no significant increase of NA and A levels and they frequently became hypotensive. No relationship was observed between changes in PRA and those in body weight and blood pressure. Our data suggest that rapid removal of catecholamines during standard dialysis hinders the compensatory increase of the adrenergic activity and is responsible for hypotension.

Blood Pressure↗

Autonomic function in hemodialyzed patients.

The authors have studied the autonomic function in a group of 34 regular hemodialyzed patients and in a group of 24 normal volunteers with simple, non-invasive and repeteable techniques. To evaluate autonomic function Valsalva manoeuvre, cold pressor test, mental stress test, tilt test, diving reflex test, systolic-time intervals and plasma catecholamines levels were used in all subjects. Uremic patients on maintenance hemodialysis were studied the day after hemodialysis. The response to cold pressor test, mental stress test, tilt test and plasma catecholamines levels resulted normal in all uremic patients, even if 17 out of 34 patients showed an abnormal response to the Valsalva manoeuvre (Valsalva ratio lesser than 1.40). In these patients an alteration of diving reflex and/or a pathological systolic-time interval was found. The authors suggest that sympathetic function is normal in regular hemodialyzed patients and that the abnormal response to the Valsalva manoeuvre is probably due to a defect in the vagal control of the heart and/or an alteration of cardiac performance.

Adolescent↗

[Periaticular metastatic calcifications in uremic patients].

Metastatic periarticular calcification was observed in 18 per cent of a series of 61 patients receiving haemodialytic treatment for from 3 months to over 5 yr. Calcium deposits occurred more frequently in the 1st and 2nd yr of treatment. The factors responsible included the plasma calcium-phosphorus product, non-optimal calcium and magnesium ion concentration in the dialysis bath, and secondary hyperparathyroidism. Tests for the diagnosis of parathyroid hyperfunction in the uraemic subject are described. The therapeutic criteria adopted in the prevention and management of calcification are also discussed.

Acidosis↗

[Radiologic surveillance of uremic osteodystrophy after parathyroidectomy].

Partial parathyroidectomy (PTX) was carried out 20 times in 15 dialitic patients with chronic renal failure. The operation was suggested by marked radiological abnormalities due to severe secondary hyperparathyroidism, that developed despite aggressive medical and dietetic management. The skeletal x-ray examination showed significant improvement following PTX, that was clearly visible already one month postoperatively at the level of the second and third phalanges of the hands. The improvement of the skeletal osteodystrophic patterns was always associated to a fall of parathyroid hormone and plasma alkaline phosphatase levels. The radiological examination of the hands may represent a usefull and simple method in the follow-up of patients after surgery to assess the efficacy of PTX.

Adult↗