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BACKGROUND: Methylmalonic Aciduria (MA) without homocystinuria (or isolated MA) is a group of rare inherited metabolic disorders which leads to the accumulation of methylmalonic acid (MMA), a toxic molecule that accumulates in blood, urine, and cerebrospinal fluid, causing acute and chronic complications including metabolic crises, acute kidney injury (AKI), and chronic kidney disease (CKD). Detailed Case Description: Herein, we report a case of a 39-year-old male with MA and stage IV CKD who experienced acute metabolic decompensation secondary to gastrointestinal infection. The patient underwent a single hemodialysis (HD) session to correct severe metabolic acidosis unresponsive to medical therapy and to rapidly remove MMA. The HD session resulted in prompt clinical improvement and shortening of hospitalization. DISCUSSION: MMA accumulation in MA patients causes acute and life-threatening complications, such as metabolic decompensations, and long-term complications such as CKD, eventually leading to renal replacement therapy (RRT). Data reported in the literature show that, overall, all dialytic treatments (intermittent HD, continuous HD, peritoneal dialysis) are effective in MMA removal. HD, in particular, can be useful in the emergency setting to control metabolic crises, even with GFR > 15 mL/min. Kidney and/or liver transplantations are often needed in MA patients. While a solitary transplanted kidney can be rapidly affected by MMA exposure, with a decline in renal function even in the first year of follow-up, the combined liver-kidney transplantation showed better long-term results due to a combination of reduced MMA production along with increased urinary excretion. CONCLUSIONS: Early diagnosis, multidisciplinary management and preventive measures are pivotal in MA patients to avoid recurrent AKI episodes and, consequently, to slow down CKD progression.
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The exclusion of causes of hypertension is not systematically exploited in clinical practice. Therefore, essential hypertension is consistently presented as the most prevalent 'cause'. The paradox of a condition with unknown causes being described as a common cause of hypertension translates into a diagnosis of essential hypertension in most patients, which precludes the detection of a curable cause of hypertension. The aim of this review is to investigate how the notion of essential hypertension has developed and whether scientific evidence still support the notion of its high prevalence by examining the most recent studies. These studies provided solid scientific evidence that, when systematically sought for, secondary hypertension is quite common and that secondary hypertension is highly prevalent. The increased awareness should lead to a systematic search for, with the goal of curing or achieving a better control of high blood pressure, and ultimately improving patients' quality of life.
Subject(s)
Essential Hypertension , Hypertension , Humans , Hypertension/physiopathology , Essential Hypertension/physiopathology , Prevalence , Blood Pressure , Quality of LifeABSTRACT
BACKGROUND: Current guidelines and consensus documents recommend withdrawal of mineralocorticoid receptor antagonists (MRAs) before primary aldosteronism (PA) subtyping by adrenal vein sampling (AVS), but this practice can cause severe hypokalemia and uncontrolled high blood pressure. Our aim was to investigate if unilateral PA can be identified by AVS during MRA treatment. METHODS: We compared the rate of unilateral PA identification between patients with and without MRA treatment in large data sets of patients submitted to AVS while off renin-angiotensin system blockers and ß-blockers. In sensitivity analyses, the between-group differences of lateralization index values after propensity score matching and the rate of unilateral PA identification in subgroups with undetectable (≤2 mUI/L), suppressed (<8.2 mUI/L), and unsuppressed (≥8.2 mUI/L) direct renin concentration levels were also evaluated. RESULTS: Plasma aldosterone concentration, direct renin concentration, and blood pressure values were similar in non-MRA-treated (n=779) and MRA-treated (n=61) patients with PA, but the latter required more antihypertensive agents (P=0.001) and showed a higher rate of adrenal nodules (82% versus 67%; P=0.022) and adrenalectomy (72% versus 54%; P=0.01). However, they exhibited no significant differences in commonly used AVS indices and the area under the receiving operating characteristic curve of lateralization index, both under unstimulated conditions and postcosyntropin. Several sensitivity analyses confirmed these results in propensity score matching adjusted models and in patients with undetectable, or suppressed or unsuppressed renin levels. CONCLUSIONS: At doses that controlled blood pressure and potassium levels, MRAs did not preclude the identification of unilateral PA at AVS. REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT01234220.
Subject(s)
Adrenal Glands , Hyperaldosteronism , Mineralocorticoid Receptor Antagonists , Adult , Female , Humans , Male , Middle Aged , Adrenalectomy/methods , Aldosterone/blood , Blood Pressure/physiology , Blood Pressure/drug effects , Hyperaldosteronism/blood , Hyperaldosteronism/diagnosis , Hyperaldosteronism/drug therapy , Hyperaldosteronism/surgery , Mineralocorticoid Receptor Antagonists/therapeutic use , Propensity Score , Renin/blood , Retrospective Studies , Treatment Outcome , Case-Control StudiesABSTRACT
INTRODUCTION: Vascular access recirculation during hemodialysis is associated with reduced effectiveness and worse survival outcomes. To evaluate recirculation, an increase in pCO2 in the blood of the arterial line during hemodialysis (threshold of 4.5 mmHg) was proposed. The blood returning from the dialyzer in the venous line has significantly higher pCO2 , so in the presence of recirculation, pCO2 in the arterial blood line may increase (ΔpCO2 ) during hemodialysis sessions. The aim of our study was to evaluate ΔpCO2 as a diagnostic tool for vascular access recirculation in chronic hemodialysis patients. METHODS: We evaluated vascular access recirculation with ΔpCO2 and compared it with the results of a urea recirculation test, which is the gold standard. ΔpCO2 was obtained from the difference in pCO2 in the arterial line at baseline (pCO2 T1) and after 5 min of hemodialysis (pCO2 T2). ∆pCO2 = pCO2 T2-pCO2 T1. FINDINGS: In 70 hemodialysis patients (mean age: 70.52 ± 13.97 years; hemodialysis vintage of 41.36 ± 34.54, KT/V 1.4 ± 0.3), ∆pCO2 was 4 ± 4 mmHg, and urea recirculation was 7% ± 9%. Vascular access recirculation was identified using both methods in 17 of 70 patients, who showed a ∆pCO2 of 10 ± 5 mmHg and urea recirculation of 20% ± 9%; time in months of hemodialysis was the only difference between vascular access recirculation and non-vascular access recirculation patients (22 ± 19 vs. 46 ± 36, p: 0.05). In the non-vascular access recirculation group, the average ΔpCO2 was 1.9 ± 2 (p: 0.001), and the urea recirculation % was 2.8 ± 3 (p: 0.001). The ΔpCO2 correlated with the urea recirculation % (R: 0.728; p < 0.001). DISCUSSION: ΔpCO2 in the arterial blood line during hemodialysis is an effective and reliable diagnostic tool for identifying recirculation of the vascular access but not its magnitude. The ΔpCO2 test application is simple and economical and does not require special equipment.
Subject(s)
Carbon Dioxide , Renal Dialysis , Humans , Middle Aged , Aged , Aged, 80 and over , Bays , Partial Pressure , UreaABSTRACT
BACKGROUND: Prevention campaigns have led to a significant decrease in new HIV diagnoses in Western Europe, while other sexual transmitted infections (STIs) have shown an opposite trend. Several educational programs are promoted among young students, whereas informational campaigns addressing the general population are scarce. We aimed to investigate the level of awareness regarding STIs among the general population. METHODS: We proposed a questionnaire regarding STIs and HIV to the general population in Italy. We assigned 1 point to correct, 0.5 point to partially correct, and 0 point to wrong answers. We collected data about age, sex, region of origin, level of education and whether they were health workers. RESULTS: Overall, 2183 people answered the questionnaire, of which 555 aged over 50 years old. Being male, older than 50 years old, retired or unemployed, not educated, and no regular use of condoms were associated with lower scores. Only 16% of participants knew the Undetectable = Untransmittable (U = U) campaign. Overall, 2131 (97.6%) people think more educational campaigns should be offered. Of interest, 80% said the questionnaire led them to learn more about HIV and STIs. CONCLUSION: Our study reveals several gaps in general population awareness about HIV and STIs, especially among people aged over 50 years old. Most participants stated that the questionnaire was a learning opportunity. These data suggest that improvement of knowledge could start from easy-to-dispose medium, such as surveys and questionnaires delivered through social media. Furthermore, particular attention should be paid to population segmentation and campaign tailoring to enhance interventions effectiveness. Our data reinforce the need for more informational and educational campaigns tailored to the specific segments of the population.
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BACKGROUND: Renal Ultra-Sound (US) and Doppler US provide measurements which reflect changes in renal and systemic haemodynamic. The renal resistive index (RRI), obtained through the Doppler spectrum analysis of renal small arteries, is altered in several pathologic conditions. Glomerulonephritis cause minor RRI changes, while renal scleroderma vasculopathy (RSV) leads to significant RRI modifications. The aim of our study was to assess RRI in IgA nephropathy (IgAN) and RSV in a retrospective observational study and to investigate determinants of the RRI in these groups of patients. METHODS: We enrolled 61 IgAN patients [23 female, median age 41 (33-58) years] and 80 SSc patients [71 female, median age 52 (43-60) years]. RRI was evaluated in all patients at the time of enrolment. Laboratory tests and clinical assessment were evaluated in all patients. RESULTS: IgAN patients showed lower RRI values than RSV patients [0.70 (0.65-0.73) vs 0.66 (0.62-0.72), p < 0.01], while no significant difference in longitudinal length was observed. Median age was significantly lower in IgAN patients than in RSV patients [41 (33-58) vs 52 (43-60), p < 0.05] while IgAN patients showed a higher prevalence of high blood pressure than RSV patients (39.3% vs 13.8%, p < 0.01). The multiple regression analysis, weighted for age, showed that RRI inversely correlates with estimated glomerular filtration rate (ß coefficient = -0.524, p < 0.0001). CONCLUSION: Higher RRI were found in RSV patients than IgAN patients. IgAN is characterized mainly by glomerular injury, not leading to major RRI changes.
Subject(s)
Glomerulonephritis, IGA/physiopathology , Kidney/blood supply , Renal Artery/physiopathology , Scleroderma, Systemic/physiopathology , Adult , Blood Flow Velocity , Female , Glomerulonephritis, IGA/diagnostic imaging , Humans , Male , Middle Aged , Renal Artery/diagnostic imaging , Renal Circulation , Retrospective Studies , Scleroderma, Systemic/diagnostic imaging , Ultrasonography, Doppler , Vascular ResistanceABSTRACT
INTRODUCTION: The gut microbiota has coevolved with humans for a mutually beneficial coexistence and plays an important role in health and disease. A dysbiotic gut microbiome may contribute to progression to chronic kidney disease (CKD) and CKD-related complications such as cardiovascular disease. Microbiota modulation through the administration of prebiotics may represent an important therapeutic target. AIM: We sought to evaluate the effects of a low-protein diet (LPD) (0.6 g/kg/day) with or without the intake of the prebiotic inulin (19 g/day) on microbiota and clinical parameters in CKD patients. MATERIALS AND METHODS: We performed a longitudinal, prospective, controlled, and interventional study on 16 patients: 9 patients treated with LPD (0.6 g/kg/day) and inulin (19 g/day) and 7 patients (control group) treated only with LPD (0.6 g/kg/day). Clinical evaluations were performed and fecal samples were collected for a subsequent evaluation of the intestinal microbiota in all patients. These tests were carried out before the initiation of LPD, with or without inulin, at baseline (T0) and at 6 months (T2). The microbiota of 16 healthy control (HC) subjects was also analyzed in order to identify potential dysbiosis between patients and healthy subjects. RESULTS: Gut microbiota of CKD patients was different from that of healthy controls. The LPD was able to significantly increase the frequencies of Akkermansiaceae and Bacteroidaceae and decrease the frequencies of Christensenellaceae, Clostridiaceae, Lactobacillaceae, and Pasteurellaceae. Only Bifidobacteriaceae were increased when the LPD was accompanied by oral inulin intake. We showed a significant reduction of serum uric acid (SUA) and C-reactive protein (CRP) in patients treated with LPD and inulin (p = 0.018 and p = 0.003, respectively), an improvement in SF-36 (physical role functioning and general health perceptions; p = 0.03 and p = 0.01, respectively), and a significant increase of serum bicarbonate both in patients treated with LPD (p = 0.026) or with LPD and inulin (p = 0.01). Moreover, in patients treated with LPD and inulin, we observed a significant reduction in circulating tumor necrosis factor alpha (TNF-α) (p = 0.041) and plasma nicotinamide adenine dinucleotide phosphate (NADPH) oxidase (NOX2) (p = 0.027) levels. We did not find a significant difference in the circulating levels of Interleukin (IL)-1ß (p = 0.529) and IL-6 (p = 0.828) in the two groups. CONCLUSIONS: LPD, associated or not with inulin, modified gut microbiota and modulated inflammatory and metabolic parameters in patients with CKD. Our results suggest that interventions attempting to modulate the gut microbiome may represent novel strategies to improve clinical outcomes in CKD patients and may provide useful therapeutic effects.
Subject(s)
Diet, Protein-Restricted , Gastrointestinal Microbiome , Inulin/administration & dosage , Renal Insufficiency, Chronic/diet therapy , Renal Insufficiency, Chronic/microbiology , C-Reactive Protein/metabolism , Controlled Before-After Studies , Feces/microbiology , Health Surveys , Humans , Longitudinal Studies , NADPH Oxidases/metabolism , Prospective Studies , Tumor Necrosis Factor-alpha/metabolism , Uric Acid/bloodABSTRACT
BACKGROUND: Chronic kidney disease (CKD) is a highly prevalent condition. Urologic disorders are known causes of CKD, but often remain undiagnosed and underestimated also for their insidious onset and slow progression. We aimed to evaluate the prevalence of urological unrecognized diseases in CKD patients by uroflowmetry. METHODS: We enrolled consecutive stable CKD outpatients. The patients carried out two questionnaires, the International Prostate Symptom Score and Incontinence Questionnaire-Short Form, and they also underwent uroflowmetry, evaluating max flow rate (Q max), voiding time and voided volume values. RESULTS: A total of 83 patients (43 males, mean age of 59.8 ± 13.3 years) were enrolled. Our study showed 28 males and 10 females with a significant reduction of Q max (P < 0.001) while 21 females reported a significant increase of Q max (P < 0.001) with a prevalence of 49.5% of functional urological disease. Moreover, we showed a significant association between Q max and creatinine (P = 0.013), estimated glomerular filtration rate (P = 0.029) and voiding volume (P = 0.05). We have not shown significant associations with age (P = 0.215), body mass index (P = 0.793), systolic blood pressure (P = 0.642) or diastolic blood pressure (P = 0.305). Moreover, Pearson's chi-squared test showed a significant association between Q max altered with CKD (χ2 = 1.885, P = 0.170) and recurrent infection (χ2 = 8.886, P = 0.012), while we have not shown an association with proteinuria (χ2 = 0.484, P = 0.785), diabetes (χ2 = 0.334, P = 0.563) or hypertension (χ2 = 1.885, P = 0.170). CONCLUSIONS: We showed an elevated prevalence of urological diseases in nephropathic patients; therefore, we suggest to include uroflowmetry in CKD patient assessment, considering the non-invasiveness, repeatability and low cost of examination. Uroflowmetry could be used to identify previously unrecognized urological diseases, which may prevent the onset of CKD or progression to end-stage renal disease and reduce the costs of management.