The general practitioner and nephrolithiasis

Nephrolithiasis is a multifactorial disease the genesis of which is influenced by genetic, metabolic and environmental factors which determine a series of alterations in the urinary excretion of a number of substances, the cause of the disease itself. The general practitioner is often the first professional to be consulted as regards clinical and therapeutic treatment at the moment of the onset of nephrolithiasis, renal colic, inasmuch as contacted directly by the patient. His role however should not be limited to this initial phase but becomes of strategic importance throughout the subsequent diagnostic procedure; this is especially true with regard to relapses, in correctly placing the patient and, if necessary, referring him/her to the most appropriate specialist area. Running through the entire process which the lithiasic patient encounters from the onset of the disease until therapeutic treatment begins, it is clear how an appropriate initial approach can, in many cases, simplify and optimise such process. On the basis therefore of a complete medical record, and a few simple, biochemical and instrumental tests, the general practitioner is in a position to decide whether to treat the patient directly or to refer him/her to the most appropriate specialist field for investigation at a higher level

The bone care nurse project

In today's society, citizens are called to play an increasingly active role in decision planning related to the various aspects of work, social and political life. This trend has been also confirmed in the health’s field. In fact, the citizen is also required to have the skills to take responsibility for his/her own health, to have knowledge of the health care system, understand the advice and instructions of health professionals, actively participating with them in the therapeutical path. The lack or an inadequate level of these skills will affect both the health of the individual and the costs related to the National Health System. The nursing staff that interfaces between physicians and patients plays a key role in health’s promotion as an important determinant of health and welfare of the patient-citizen. With regard to osteoporosis, due to better knowledge of its determining causes, it is now possible an easy access to diagnosis and treatment options before fragility fractures occur, providing a real prevention to such complications. Prevention must be addressed to two different, but related, objectives: 1) prevention of osteoporosis; and 2) prevention of fragility fractures in patients with osteoporosis. In the context of both primary and secondary prevention, the nurse can better informed the patients and/or citizens about either the risks related to an inappropriate behavior or situations and events particularly dangerous to health, as well as provide information to simply and effectively implement protective measures. This project aims to raise awareness and create competent and specialized nurse figures, with a good understanding of the bone diseases, through the organization of seminars and training courses. Thus, it will be create clinical pathways and welfare in which the figure of the "Bone Care Nurse” will be responsible for administration of questionnaires relating to lifestyle and, for patients in drug treatment, questionnaires designed to assess the relevance of the adherence/compliance to the prescribed therapy. The "Bone Care Nurse” will also provide specific information leaflets aimed at improving lifestyle, compliance and adherence to therapy prescribed by physician. Specifically, this program will cover not only the prevention of fragility fractures in patients with low bone mass but also will provide general information on healthy lifestyles, such as adequate diet and physical activity, helpful to prevent cardiovascular disease, diabetes, obesity. An increase patient’s compliance in taking the antiosteoporotic therapy, as also other concomitant medications will be obtainable. The information collected will be stored in an electronic database, subject to statistical analysis and will be informative on both the degree of knowledge of disease by the patient at the first and follow-up meetings of the Bone Care Nurse projec

Idiopathic hypercalciuria and calcium renal stone disease: our cases

Renal idiopathic stone disease affects about 8% of the Italian population. The most common form in western countries (70- 80% of the cases) is calcium nephrolithiasis, with stones formed mainly by calcium oxalate and phosphate. One of the main metabolic anomalies that is often associated with calcium nephrolithiasis is hypercalciuria. Primary hypercalciuria is a metabolic defect characterized by an increased renal calcium excretion. This metabolic alteration is present in the general population with a frequency of 5-10%, but can reach 45-50% in subjects affected by nephrolithiasis. We studied 149 patients affected by idiopathic calcium nephrolithiasis.The aim of the present study was to evaluate the association between familiarity for nephrolithiasis and hypercalciuria in this population of patients

Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1)

Primary hyperparathyroidism is the main endocrinopathy associated with Multiple Endocrine Neoplasia type 1 syndrome. Cinacalcet is a calcimimetic agent licensed for the treatment of secondary hyperparathyroidism in patients with end-stage renal disease, and for the reduction of marked hypercalcemia in patients with parathyroid carcinoma and sporadic hyperparathyroidism requiring surgery but for whom parathyroidectomy is contraindicated. It may provide a medical alternative for the management of primary hyperparathyroidism in subjects affected by Multiple Endocrine Neoplasia type 1. In this longitudinal, intervention study, 33 MEN1 patients had been enrolled, 10 males and 23 females with a mean age of 40 ± 11.9 years, range 20-63. Primary hyperparathyroidism was the first clinical manifestation in 12 patients. All subjects commenced with Cinacalcet 30 mg/day, 22 patients starting therapy with calcimimetics as an alternative to surgery, and 11 patients opting for the medication after the onset of persistent post-surgical primary hyperparathyroidism. Duration of follow-up was 12 months. The results of this study show significant reductions in serum calcium. The changes in hormonal secretions of pituitary and gastroenteropancreatic glands were not significant, demonstrating the overall safety of this drug in this disease. Cinacalcet has been well tolerated by 28 patients, whereas five individuals complained of heartburn and grade 1 nausea, which did not prevent the completion of the study. In conclusion, Cinacalcet has resulted to be well tolerated and safe in patients with MEN1 syndrome and the calcium homeostasis was stabilized

ALPL genotypes in patients with atypical femur fractures or other biochemical and clinical signs of hypophosphatasia

Context: Hypophosphatasia (HPP) is a rare metabolic disorder caused by deficiency of alkaline phosphatase (ALP) enzyme activity, leading to defective mineralization, due to pathogenic variants of the ALPL gene, encoding the tissue non-specific alkaline phosphatase (TNSALP) enzyme. Inheritance can be autosomal recessive or autosomal dominant. An abnormal ALPL genetic test enables accurate diagnosis, avoiding the administration of contraindicated antiresorptive drugs that, in HPP patients, substantially increase the risk of atypical femur fractures (AFFs) and worsen fracture healing process that is usually already compromised in these patients. Objective: Performing ALPL genetic testing to identify rare variants in suspected adult HPP patients. Comparing frequencies of ALPL common variants in individuals with biochemical and/or clinical signs suggestive of adult HPP and non-HPP controls, and among different clinical subgroups of patients with a clinical suspicion of adult HPP. Design: Patients with suspected adult HPP were retrospectively selected for the genetic testing of the ALPL gene. Setting: Patients included were from three main European Bone Units (Florence, Naples and Geneva). Patients: 106 patients with biochemical and/or clinical signs suggestive of a mild form of HPP. Results and conclusions: Genetic testing led to the identification of a heterozygote rare variant in 2.8% of cases, who were initially referred as suspected osteoporosis. The analysis of frequencies of ALPL common variants showed a high prevalence (30.8%) of homozygosity in subjects who developed an AFF, in association with normal serum total ALP activity, suggesting this as a possible genetic marker of risk for these fractures