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O objetivo deste estudo foi caracterizar os perfis de saúde e criminal de idosos privados de liberdade. Estudo descritivo com 276 sujeitos, em que se evidenciou a presença de uma doença crônica, sendo que 42,7% desses idosos apresentam o predomínio da Hipertensão Arterial Sistêmica (HAS) e o uso de medicamentos para o tratamento de alterações do Aparelho Cardiovascular. A maioria (59,1%) dos encarcerados cumpre pena por uma infração, sendo o Homicídio simples a mais frequente.

Background An unmet objective in the pursuit of HCV elimination is the creation of a simple and fast operating model to identify difficult-to-treat populations, like prisoners. Of many obstacles, the first is represented by the poor knowledge of inmates HCV-Ab prevalence. Moreover, due to the peculiar status of conviction, often their access to antiviral therapy is neglected. Aims To evaluate the prevalence of HCV infection in a penitentiary Institution of Southern Italy through a point-of-care screening and treatment program. Methods We conducted a prospective observational study in two phases: first, we reviewed all the prisoners’ clinical records, to verify HCV-Ab execution. Subsequently, we performed a universal point-of-care screening and treatment program. Results We enrolled 670 patients. Overall, 310(46.27%) were already HCV-Ab tested. At the screening initiation, 23.28% patients were discharged, whereas 8.35% refused. Of the remaining 458 subjects, 58(12.67%) were HCV-Ab positive and 46 HCVRNA positive. All these underwent DAA, obtaining 100% SVR. At the end of the program, a total of 491(73.28%) subjects had HCV-Ab available. Sixty-nine (14.05%) were positive. A total of 214(31.94%) subjects were lost to follow-up. Conclusions We revealed a prevalence of 14.05% of HCV-Ab in conviction. Antiviral treatment was safe and efficacious. More efforts are advisable to provide screening for HCV-Ab in conviction.

INTRODUCTION Catheter ablation is an important treatment option for sustained ventricular arrhythmias (VA) that are refractory to pharmacological treatment; however, patients with fast VA or electrical storm (ES) are at risk for cardiogenic shock. We report our experience using cardiopulmonary support with extracorporeal membrane oxygenation (ECMO) during catheter ablation of VA. METHODS Nineteen patients (mean age, 62 ± 10 years; 84% male) were referred to our center for CA of ES between January 2017 and April 2018. ES was defined as the occurrence of ≥3 ventricular tachycardia or ventricular fibrillation episodes requiring electrical cardioversion or defibrillation in a 24-hour period. ECMO support was implemented for all patients. RESULTS CA of ES was completed in all patients. Activation mapping was performed for all VTs and substrate modification was performed by targeting sites identified by late/fragmented abnormal potentials. VTs were not inducible after ablation in 16 of 19 patients (84%). With regard to procedural complications, two patients underwent percutaneous angioplasty with stenting for a femoral artery dissection and one patient was treated for a dislodged ECMO arterial cannula and subsequent hemorrhagic shock. After a median follow-up of 10 months, three patients died from refractory heart failure and one patient died as a result of ES. Overall, the procedural success rate was 68% and the Kaplan-Meier mortality rate was 21%. CONCLUSIONS ECMO support may be used for ablation procedures in patients with ES.

HCV infection among vulnerable populations is currently a major issue for HCV elimination program. Incarcerated people and people who inject drugs (PWIDs) are key population groups potentially at high risk for HCV infection. Our aim was to evaluate an extended program of screening, staging and treatment in Italian prison settings.Patients from eight prisons in five different Italian Regions were enrolled. HCV saliva test (QuickOral Test®) was offered. Data on infection awareness and illicit drug use were also collected. Positive patients underwent early HCV RNA evaluation, staging and prescription on DAAs treatment. The definition of PWID was based on self-reported injecting drug use extracted from medical records (injecting drug use during the previous six months).A total of 2,376 out of 2,687 individuals (88%) was tested. The median (IQR) age was 42 (32-50) years. PWIDs were 537out of 2,376 (23%). Prevalence of HCV antibodies was 10.4% (248/2,376). PWIDs had a lower awareness of their HCV-Ab positivity than non-PWIDs (p-value0.001). Furthermore, PWIDs were less likely to be previously treated than non-PWIDs (78% vs 96%, p-value= 0.017). Active infection was found in 41% of patients (101/248). Overall, 61% HCV-positive were PWIDs, with 44% HCV RNA positive. HCV therapy was prescribed to 83% (84/101) of patients with active HCV infection and 67% of these (56/84) were PWIDs. Prescription for HCV treatment in PWIDs accounted for 84% (56/67) (while for non-PWIDs was 82% (28/34) p-value: 0.88. Seventeen patients were referred to a Specialist in other prisons because they were going to be transferred soon to another prison. EOT, as well as SVR12 were achieved in 98% (82/84) treated patients.Among patients, PWIDs had a lower awareness of their HCV-Ab positivity and had previously received less treatments. Saliva test allowed to achieve a more rapid result, stage, and treatment approach. More than 80% of patients underwent treatment, without differences between PWIDs and non-PWIDs. Linkage to care during prison transfer allowed to avoid unplanned interruptions and offered more chances to reach the end of treatment.

Summary: Background: Standard diet with normal calcium and reduced animal proteins and salt content reduces stone recurrence in calcium oxalate nephrolithiasis. Whether lemon juice supplementation further reduces recurrence rate is unknown. Methods: In this single-centre, prospective, randomised, open, blinded endpoint trial (Clinical Trials gov NCT01217372) we evaluated the effects of fresh lemon juice supplementation (60 mL twice daily) versus no supplementation, on time to stone recurrence in 203 patients with recurrent idiopathic calcium oxalate nephrolithiasis who were all prescribed a standard diet. Patients were included between July 2009 and March 2017 at the Nephrology Unit of the Papa Giovanni XXIII hospital in Bergamo, Italy. Time to stone recurrence at 2 years of follow-up was the primary outcome. Analyses were by intention-to-treat. Findings: During two years of follow-up 21 of 100 patients randomised to lemon juice supplementation and 32 of 103 controls randomised to no supplementation had stone recurrence [HR (95% CI): 0·62 (0·35–1·07), p = 0·089]. Patient adherence to lemon juice supplementation, however, progressively decreased from 68% at one-year to 48% at two-year follow-up. At explorative analyses restricted at one-year follow-up, ten patients with supplementation versus 22 controls had stone recurrence [0·43 (0·20–0·89), p = 0·028]. After adjustment by age, sex and normo or hypocitraturia, the HR (95%) was still significant [0·45 (0·20–0·93), p = 0·036]. At six months, 24 hour urinary sodium excretion decreased by 8·60±65·68 mEq/24 h in patients receiving lemon juice supplementation and increased by 3·88±64·78 mEq/24 h in controls. Changes significantly differed between groups (p = 0·031). This difference was subsequently lost. Treatment was safe. In patients with lemon juice supplementation gastrointestinal disorders were more frequent (p

The association of hepatitis C virus (HCV) with non-Hodgkin's lymphoma (NHL) has been demonstrated throughout the world. The new interferon-free direct antiviral agents (DAAs) showed high efficacy and safety, and preliminary data seem to confirm their activity on low-grade NHL. The question arises as whether or not—and how—to treat the HCV-positive patients suffering from diffuse large B-cell lymphomas (DLBCLs). The aim of this observational study was to evaluate whether DAA antiviral treatment of DLBCL/HCV-infected patients in concomitance with chemotherapy is a safe and effective option. Twenty (13 males and 7 females) HCV genotype 1b-positive subjects, undergoing chemotherapy for DLBCL, were enrolled between June 2015 and December 2015. After informed consent, all patients underwent antiviral therapy (AVT) with sofosbuvir/ledipasvir and chemotherapy (14 rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone and 6 cyclophosphamide, doxorubicin, vincristine, and prednisone) for DLBCL. Complete hematological (Revised European-American Lymphoma classification, Ann Arbor, and International Prognostic Index [IPI] scores) and hepatological (viral markers, liver stiffness, and biochemical parameters) evaluations were made. A historical retrospective cohort of 101 DLBCL/HCV-positive patients not undergoing AVT was enrolled for comparison. DAA-treated and untreated patients were similar for sex distribution, IPI score, and NHL stage, and differed for age (older in treated), chemotherapy and use of AVT. Overall survival (OS) and disease-free survival (DFS) were evaluated among a 52-week of follow-up. No statistical difference was found in OS after 52 weeks (P = 0.122), whereas a statistically significant higher DFS was achieved in treated patients (P = 0.036). At the multivariate analysis, only IPI score and AVT were independently correlated with a better DFS. No differences in adverse events were reported. Conclusion: DAA treatment in concomitance with chemotherapy was shown to be safe and effective in influencing remission of aggressive lymphomas in HCV patients. (Hepatology 2018;67:48-55).

Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. RCAD is characterized as a multi-organ disease, with a broad spectrum of symptoms including kidney abnormalities (renal cysts, renal hypodysplasia, single kidney, horseshoe kidneys, hydronephrosis), early-onset diabetes mellitus, abnormal liver function, pancreatic hypoplasia and genital tract malformations. In the present study, using capillary electrophoresis coupled to mass spectrometry (CE-MS), we investigated the urinary proteome of a pediatric cohort of RCAD patients and different controls to identify peptide biomarkers and obtain further insights into the pathophysiology of this disorder. As a result, 146 peptides were found to be associated with RCAD in 22 pediatric patients when compared to 22 healthy age-matched controls. A classifier based on these peptides was generated and further tested on an independent cohort, clearly discriminating RCAD patients from different groups of controls. This study demonstrates that the urinary proteome of pediatric RCAD patients differs from autosomal dominant polycystic kidney disease (PKD1, PKD2), congenital nephrotic syndrome (NPHS1, NPHS2, NPHS4, NPHS9) as well as from chronic kidney disease conditions, suggesting differences between the pathophysiology behind these disorders.

(1) Background: The emergency linked to the spread of COVID-19 in Italy has led to inevitable consequences on the penitentiary system. The risks of this emergency in prisons is mainly related to the problem of persistent overcrowding that makes social distancing difficult and the isolation of any contagion hard to arrange. The Department of Protection for Adults and Minors of the ASL Salerno Criminal Area has taken steps in order to perform screening operations and minimize the risks for prisoners and operators. (2) Methods: We conducted a two-phase observational study. In the first phase, we offered and then executed serum COVID-19 screening to all the convicted inmates. For those who had a doubtful or positive result, a swab was executed in the shortest time possible. In the second phase, a pharyngeal swab was offered and executed to all the police officers, the penitentiary administrative staff and the medical personnel working in the prison. (3) Results: In the first phase, we executed 485 COVID-19 blood tests on prisoners, 3 (0.61%) of which were positive. The three positive inmates underwent nasopharyngeal swabbing, which ultimately were negative. After that, we executed 276 nasopharyngeal swabs on the prison personnel, penitentiary administrative staff and medical personnel&mdash, all were negative. (4) Conclusion: All tests (blood tests and swabs) that were carried out on the prisoners and on the staff were negative for COVID-19. We believe that all prisons in Italy and in the world should take action to ensure preventive and control measures in order to safeguard the health of the prison population and of all the people who work there.

Objective Cardiopulmonary bypass (CPB) exerts several deleterious effects on inflammatory pathways. Most of these can be related to an endothelial insult leading to endothelial dysfunction. To date, the degree of endothelial damage only has been evaluated on a cellular and molecular level, but no studies exist looking at the functional effects of CPB on the endothelium. Design Previous studies hypothesized a negative effect of continuous flow as opposed to the physiologic pulsatile flow. The aim of the present retrospective study was to investigate how different perfusion modalities during CPB (ie, continuous v pulsatile flow) or its avoidance differently impact endothelial function. Setting Cardiovascular operating room and intensive care unit of a large tertiary University Hospital in Monza, Italy. Participants Flow-mediated dilatation (FMD) of the brachial artery was assessed in 29 patients undergoing elective myocardial revascularization. Ten patients receiving continuous-flow CPB, 10 receiving pulsatile-flow CPB, and 9 scheduled for beating-heart revascularization were studied. Interventions Patients were studied at baseline (after induction of general anesthesia), after CPB upon intensive care unit (ICU) admission after surgery, and on the first postoperative day before discharge from the ICU (on average, 24 hours after CPB discontinuation). Measurements and Main Results The continuous-flow CPB group demonstrated a significant reduction in FMD after CPB, (12.8%±9.7% v 1.6%±1.5%, p

Myocardial failure is generally considered to be a progressive, irreversible medical condition with characteristic ventricular enlargement, spatial alteration of the heart chambers, diminished cardiac inotropy and resultant dysfunctional, mechanically inefficient heart. The Jarvik 2000®, similar to the mechanical pump, is an electrically powered, axial-flow left ventricular assist device (LVAD) designed to enhance the function of the chronically failing heart and, consequently, normalize the cardiac output for a long period of time. We report the case of 70-year-old man with congestive dilated cardiomyopathy and bioprosthetic mitral valve who underwent surgical implantation of the Jarvik 2000® LVAD, using the miniaturized extracorporeal circulation (MECC) system. The LVAD was implanted through a left thoracotomy and the MECC system was used to avoid intraoperative spontaneous hemodynamic instability and/or malignant ventricular arrhythmia. The circulatory support with the MECC system was optimal and no complication in terms of hemodynamic instability and perioperative bleeding was recorded. The MECC system obliterated the adverse effects associated with conventional extracorporeal circulation, which are often fatal in critically-ill patients.

Inflammatory response and hemodilution are the main drawbacks of extracorporeal circulation. We hypothesize that the use of miniaturized extracorporeal circulation (MECC) might lower the systemic and myocardial inflammatory patterns compared with a standard system (SECC) and off-pump coronary artery bypass grafting (OPCABG). Sixty-one patients undergoing isolated coronary artery bypass graft were prospectively randomized to MECC (n = 19), SECC (n = 20), or OPCABG (n = 22). Blood samples were collected from radial artery and coronary sinus to analyze blood lactate, hemodilution, and markers for inflammation and endothelial activation such as tumor necrosis factor (TNF)-α, interleukin-6, monocyte chemotactic protein-1, and E-selectin. No differences were observed in early clinical outcome. Interleukin -6 levels increased in every group during and after cardiac surgery, whereas TNF-α values grew in the SECC group (p = 0.05). E-selectin systemic values decreased during and after operation (p = 0.001) in every group. Monocyte chemotactic protein-1 systemic and cardiac levels raised only in SECC group (p = 0.014). In conclusion, MECC is comparable to SECC and OPCABG in the clinical outcome of low-risk patients, and it might be extensively used with no additional intraoperative risk. The analysis of the inflammatory patterns of endothelial activation shows MECC as effective as OPCABG, suggesting further studies to clarify MECC recommendation in high-risk patients.

A multidrug treatment strategy that targets urinary proteins with an angiotensin-converting enzyme (ACE) inhibitor and angiotensin receptor blocker (ARB) up-titrated to the respective maximum tolerated dose combined with intensified blood pressure (BP) control has been found to prevent renal function loss in adults with proteinuric nephropathies. Herein, we investigated the effects of this treatment protocol in the pediatric patient population. From May 2002 to September 2014 we included in this observational, longitudinal, cohort study 20 consecutive children with chronic nephropathies and 24-h proteinuria of >200 mg who had received ramipril and losartan up-titrated to the respective maximum approved and tolerated doses [mean ( standard deviation) dose:2.48 (1.37) mg/m2 and 0.61 (0.46) mg/kg daily, respectively]. The primary efficacy endpoint was a >50 % reduction in 24-h proteinuria to

Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1 , ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical features, such as sensorineural hearing loss, have been mainly described in association with mutations in one gene instead of the others. Nevertheless, the diagnosis of distal renal tubular acidosis is essentially based on clinical and laboratory findings, and the series of patients described so far are usually represented by small cohorts. Therefore, a strict genotype-phenotype correlation is still lacking, and questions about whether clinical and laboratory data should direct the genetic analysis remain open. Here, we applied next-generation sequencing in 89 patients with a clinical diagnosis of distal renal tubular acidosis, analyzing the prevalence of genetic defects in SLC4A1 , ATP6V0A4, and ATP6V1B1 genes and the clinical phenotype. A genetic cause was determined in 71.9% of cases. In our group of sporadic cases, clinical features, including sensorineural hearing loss, are not specific indicators of the causal underlying gene. Mutations in the ATP6V0A4 gene are quite as frequent as mutations in ATP6V1B1 in patients with recessive disease. Chronic kidney disease was frequent in patients with a long history of the disease. Thus, our results suggest that when distal renal tubular acidosis is suspected, complete genetic testing could be considered, irrespective of the clinical phenotype of the patient.

Objective Weaning from veno-arterial extracorporeal life support is challenging. The objective of this trial was to investigate the endothelial and hemodynamic effects of levosimendan in cardiogenic shock patients supported with veno-arterial extracorporeal life support. Design This was a prospective observational trial. Setting Cardiovascular intensive care unit of a large tertiary care university hospital in Monza, Italy. Participants and Interventions Flow-mediated dilatation of the brachial artery and hemodynamic parameters were assessed in 10 cardiogenic shock patients supported with veno-arterial extracorporeal life support, before and after the infusion of levosimendan. Measurements and Results Flow-mediated dilatation increased both as absolute value and as a percentage after levosimendan, from 0.10±0.12 to 0.61±0.21 mm (p

Recent studies report a prevalence of non-alcoholic fatty liver disease (NAFLD) of between 70% and 80% in patients with metabolic syndrome (MS) and type 2 diabetes mellitus (T2DM). Nevertheless, it is not possible to differentiate between simple steatosis and non-alcoholic steatohepatitis (NASH) with non-invasive tests. The aim of this study was to differentiate between simple steatosis and NASH by liver biopsy in patients with hypertransaminasemia and MS or T2DM. Two hundred and fifteen patients with increased ALT levels and MS, and 136 patients at their first diagnosis of T2DM regardless of ALT values were consecutively admitted to a tertiary hepatology center between January 2004 and November 2014. Exclusion criteria were other causes of liver disease/ALT increase. Each patient underwent a clinical, laboratory and ultrasound evaluation, and a liver biopsy. Gender distribution, age, and body mass index were similar in the two groups of patients, whereas cholesterol levels, glycemia and blood pressure were significantly different between the two groups. The prevalence of NAFLD was 94.82% in MS patients and 100% in T2DM patients. NASH was present in 58.52% of MS patients and 96.82% of T2DM. Consequently, this study reveals that, by using liver biopsy, almost all patients with T2DM or MS have NAFLD, which in patients with T2DM means NASH. Importantly, it suggests that NASH may be one of the early complications of T2DM due to its pathophysiological correlation with insulin resistance.

Secondary hyperparathyroidism contributes to post-transplant CKD mineral and bone disorder. Paricalcitol, a selective vitamin D receptor activator, decreased serum parathyroid hormone levels and proteinuria in patients with secondary hyperparathyroidism. This single-center, prospective, randomized, crossover, open-label study compared the effect of 6-month treatment with paricalcitol (1 μg/d for 3 months and then uptitrated to 2 µg/d if tolerated) or nonparicalcitol therapy on serum parathyroid hormone levels (primary outcome), mineral metabolism, and proteinuria in 43 consenting recipients of renal transplants with secondary hyperparathyroidism. Participants were randomized 1:1 according to a computer-generated sequence. Compared with baseline, median (interquartile range) serum parathyroid hormone levels significantly declined on paricalcitol from 115.6 (94.8-152.0) to 63.3 (52.0-79.7) pg/ml (P

Objective: Extracorporeal membrane oxygenation (ECMO) support has been suggested to improve the survival rate in patients with refractory in- and out-of-hospital cardiac arrest (IHCA and OHCA). The aim of our study is to report our experience with ECMO in these patients. Design: Retrospective, single-centre, observational study. Patients: From January 2006 to February 2011 we studied 42 patients (31 males) with refractory cardiac arrest. Measurement and main results: ECMO implantation was successful in 38 (90%) of the 42 patients. ECMO support was positioned: three times (8%) in the operating room, six (16%) in the cardiac surgery intensive care unit, 21 (55%) in the emergency room, five (13%) in the catheterisation laboratory and three (8%) in the general ward. A total of 14 IHCA (58%) and three OHCA (16%) patients were weaned from ECMO (. p

Introduction: Vitamin D receptor activator (VDRA) therapy has been shown to be associated with reduced mortality rates in chronic kidney disease (CKD) patients with secondary hyperparathyroidism (SHPT). However, differences between VDRAs in their ability to reduce both all-cause and cardiovascular-related mortality rates are not yet fully elucidated. Methods: The objective of the current analysis was to determine the effect of VDRA therapy on mortality in an Italian dialysis population, observed prospectively every 6 months for 18 months. Patients were investigated for all-cause and cardiovascular-related mortality risk adjusted for various demographic, clinical, and/or SHPT treatment variables. Results: The cumulative probabilities of all-cause and cardiovascular-related mortality were lower for patients who received any VDRA treatment compared with those who did not (p < 0.001) regardless of all measured variables. Additionally, patients who received paricalcitol and/or cinacalcet (with or without VDRAs) compared with calcitriol showed a significant improvement in both all-cause and cardiovascular-related mortality (p < 0.001). Cinacalcet with or without VDRAs was not associated with a further decrease of mortality hazard ratios compared with paricalcitol monotherapy. Conclusions: VDRA therapy (associated or not with cinacalcet) was associated with improved survival in dialysis patients, independent of demographic and clinical variables.

In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a small, genetically isolated village in Sardinia, with well-characterized genealogical data linking the extant population up to the 16th century. It is expected that the number of risk alleles involved in complex disorders is smaller in isolated founder populations than in more diverse populations, and the power to detect association with complex traits may be increased when related, homogeneous affected individuals are selected, as they are more likely to be enriched with and share specific risk variants than are unrelated, affected individuals from the general population. When related individuals are included in an association study, correlations among relatives must be accurately taken into account to ensure validity of the results. A recently proposed association method uses an empirical genotypic covariance matrix estimated from genome-screen data to allow for additional population structure and cryptic relatedness that may not be captured by the genealogical data. We apply the method to our data, and we also investigate the properties of the method, as well as other association methods, in our highly inbred population, as previous applications were to outbred samples. The more promising regions identified in our initial study in the genetic isolate were then further investigated in an independent sample collected from the Italian population. Among the loci that showed association in this study, we observed evidence of a possible involvement of the region encompassing the gene LRRC16A, already associated to serum uric acid levels in a large meta-analysis of 14 GWAS, suggesting that this locus might lead a pathway for uric acid metabolism that may be involved in gout as well as in nephrolithiasis., Author Summary There are a number of factors that contribute to renal stone formation, including diet and obesity, specific drugs, other diseases, climate changes, metabolic disorders, and genetic predisposition. In this article, we focus on identifying genomic regions that may be involved with nephrolithiasis associated with a uric acid component. We analyze data from a genetic isolate in Sardinia to take advantage of the potential improvement in power to detect association with complex traits when related, homogeneous affected individuals are selected. To take into account the correlations among our related sample of cases and controls, we applied a recently proposed method that corrects for both known and unknown population and pedigree structure using genome-wide data. In simulation studies for outbred populations with related individuals and population structure, the method has been demonstrated to provide a substantial improvement over a number of existing methods in terms of power and type 1 error. We investigate the properties of this new method, as well as other association methods, in our inbred sample. To our knowledge, this is the first application of this recently proposed method to a founder population. This study is also the first genome-wide association study carried out for uric acid nephrolithiasis.

Background Medullary sponge kidney (MSK) is a rare congenital disease characterized by diffuse ectasia or dilation of precalyceal collecting tubules. Although its pathogenesis is unknown, the association with various congenital diseases suggests that it could be a developmental disorder. In addition to the typical clinical features of nephrocalcinosis and urolithiasis, patients with MSK show tubular function defects of acidification and concentration. These are considered to be secondary to morphological changes of collecting tubules. Primary distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H(+) ions in the intercalated cells of the collecting duct required for final excretion of fixed acids. Both autosomal dominant and autosomal recessive forms have been described, the latter is also associated with sensorineural hearing loss. Methods and results We report two patients presenting with dRTA, late sensorineural hearing loss and MSK, in whom molecular investigations demonstrated the presence of mutations of the H(+) proton pump ATP6V1B1 and ATP6V0A4 genes. Conclusions These observations, including a previous description of a similar case in the literature, indicate that MSK could be a consequence of the proton pump defect, thus can potentially provide new insights into the pathogenesis of MSK.