Nutrition in adult patients with selected lysosomal storage diseases.

Lysosomal storage disorders (LSDs) are a group of clinically heterogeneous disorders affecting the function of lysosomes and are characterized by an accumulation of undigested substrates within several cell types. In recent years there have been substantial advances in supportive care and drug treatment for some LSDs, leading to improved patient survival, as seen in Gaucher, Pompe and Fabry disease and some Mucopolysaccharidoses; however, many symptoms still persist. Thus it is now even more important to improve patients' quality of life and reduce symptoms and comorbidities. One potential way of achieving this goal is through adjunct nutritional therapy, which is challenging as patients may be overweight with associated consequences, or malnourished, or underweight. Furthermore, drugs used to treat LSDs can modify the metabolic status and needs of patients. There are currently not enough data to make specific dietary recommendations for individual LSDs; however, suggestions can be made for managing clinical manifestations of the diseases, as well as treatment-associated adverse events. The metabolic and nutritional status of adult patients must be regularly assessed and individualized dietary plans may be created to cater to a patient's specific needs. Damage to the autophagic process is a common feature in LSDs that is potentially sensitive to dietary manipulation and needs to be assessed in clinical studies.

Erratum: New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases.

[This corrects the article DOI: 10.1093/ckj/sfy108.].

New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases.

BACKGROUND: The FAbry STabilization indEX (FASTEX) is an innovative index allowing the assessment of clinical stability over time in Fabry disease patients. This index was developed in a population of 28 male patients with the classical form of Fabry disease. OBJECTIVES: The aim of the study was to test the accuracy of the FASTEX in evaluating Fabry disease stability in 132 male and female patients with classical and non-classical Fabry disease from nine Italian centres and it also aimed to define the sensitivity and specificity of this new tool. In particular, we aimed to investigate the correlation between the FASTEX and clinical judgement in a large-scale cohort of the study population. METHODS: Statistical methods applied to this investigation included the calculation of accuracy, specificity and sensitivity, receiver operating characteristic (ROC) curves and Cohen's κ index related to the FASTEX and clinical judgement. RESULTS: The patient population included 58 males (43.9%). The mean age of the overall population was 46.3 ± 15. 1 years (range 31.2-61.4). The median interval between the two multidisciplinary evaluations used for FASTEX calculation was 398 days. Since no gold standard method is available to define the overall clinical condition of Fabry patients over time, the results of the FASTEX were compared with clinical judgements given by the physicians involved in this study. In this way, the FASTEX classified 121 of 132 (92%) patients correctly. In particular, the FASTEX correctly identified 93% (41/44) of clinically 'unstable' and 91% (80/88) of clinically 'stable' patients. The area under the curve of the ROC related to the FASTEX index cut-off (20) was equal to 0.967, very close to its theoretical maximum (1), which means that it is an excellent test for classifying patients as 'stable' or 'unstable' compared with clinical judgement. In addition, the FASTEX cut-off >20 provides the most acceptable balance between sensitivity and specificity. The Cohen's κ index value obtained in our study was 0.82, showing a highly statistically significant P-value < 0.01 related to the agreement between the FASTEX and clinical judgement. CONCLUSIONS: The FASTEX is demonstrated here to be a specific and sensitive tool. When applied to a large cohort of Fabry patients, it was shown to be a valid instrument in helping physicians to discriminate objectively the clinical stability of individual Fabry patients.

Efficacy of levodropropizine in pediatric cough.

Cough in children is among the most common problems managed by pediatricians, and occurs more frequently in preschool than in older children. Most acute episodes of cough are due to viral upper respiratory tract infections. The morbidity associated with acute cough in a child extends also to parents, teachers, and other family members and caregivers. Unfortunately, therapeutic options for acute cough in children are severely limited due to the absence of drugs shown to be effective antitussives with an acceptable safety profile. Agents used in the management of adult cough, such as narcotics (codeine, hydrocodone), the non-narcotic opioid dextromethorphan, first-generation, potentially sedating antihistamines, and decongestants such as pseudoephedrine, have all been deemed inadequate for treatment of acute pediatric cough on a risk/benefit basis. A growing body of evidence suggests that the peripherally acting antitussive, levodropropizine, may be an attractive alternative for the treatment of bothersome acute cough in children.

An observational study on cough in children: epidemiology, impact on quality of sleep and treatment outcome.

BACKGROUND: Cough is one of the most frequent symptoms in children and is the most common symptom for which children visit a health care provider. METHODS: This is an observational study on acute cough associated with upper respiratory tract infection (URTI) in children. The study evaluates the epidemiology and impact of cough on quality of sleep and children's activities, and the outcome of cough with antitussive treatments in pediatric routine clinical practice. Study assessments were performed through a pediatric cough questionnaire (PCQ), developed by the Italian Society of Cough Study. A total of 433 children visited by family care pediatricians for acute cough due to a URTI were enrolled in this study, with mean age of 6.1 years (SD 3.6). Cough type, duration, severity and frequency, cough impact on sleep disturbances of children and parents and on school and sport activities were assessed at baseline. In a subset of 241 children who were either treated with antitussive drugs (levodropropizine n = 101, central antitussives n = 60) or received no treatment (n = 80), the outcome of cough after 6 days was analyzed in terms of resolution, improvement, no change, or worsening. Descriptive analysis, χ2 test, and multivariate analysis with stepwise logistic regression were performed. RESULTS: Cough disturbed sleep in 88% of children and 72% of parents. In children treated with cough suppressants, the duration, type, intensity, and frequency cough were similar at baseline in the two groups respectively treated with levodropropizine and central antitussives (cloperastine and codeine). Both levodropropizine and central drugs reduced cough intensity and frequency. However, percentage of cough resolution was higher with levodropropizine than with central antitussives (47% vs. 28% respectively, p = 0.0012). CONCLUSIONS: Acute cough disturbs sleep in most children and their parents. Both levodropropizine and central antitussives reduced cough intensity, with levodropropizine producing a higher cough resolution rate.

Cough management: a practical approach.

Cough is one of the most common symptoms for which patients seek medical attention from primary care physicians and pulmonologists. Cough is an important defensive reflex that enhances the clearance of secretions and particles from the airways and protects the lower airways from the aspiration of foreign materials. Therapeutic suppression of cough may be either disease-specific or symptom related. The potential benefits of an early treatment of cough could include the prevention of the vicious cycle of cough. There has been a long tradition in acute cough, which is frequently due to upper respiratory tract infections, to use symptom-related anti-tussives. Suppression of cough (during chronic cough) may be achieved by disease-specific therapies, but in many patients it is often necessary to use symptomatic anti-tussives, too. According to the current guidelines of the American College of Chest Physician on "Cough Suppressants and Pharmacologic Protussive Therapy" and additional clinical trials on the most frequent anti-tussive drugs, it should be possible to diagnose and treat cough successfully in a majority of cases. Among drugs used for the symptomatic treatment of cough, peripherally acting anti-tussives such as levodropropizine and moguisteine show the highest level of benefit and should be recommended especially in children. By improving our understanding of the specific effects of these anti-tussive agents, the therapeutic use of these drugs may be refined. The present review provides a summary of the most clinically relevant anti-tussive drugs in addition to their potential mechanism of action.