"Bowel prep hyponatremia" - a state of acute water intoxication facilitated by low dietary solute intake: case report and literature review.

BACKGROUND: Symptomatic hyponatremia is considered a rare complication of oral bowel preparation for colonoscopy. The pathophysiology underlying this phenomenon has been widely regarded as a mere sequela of excessive arginine vasopressin (AVP) release. CASE PRESENTATION: This case describes a 61-year old woman who developed acute hyponatremic encephalopathy when preparing for elective outpatient lower endoscopy. She had had negligible oral solute intake for two days and ingested four liters of clear fluid within two hours. On admission, the patient was agitated and had slurred speech. Treatment with hypertonic saline lead to full recovery. A brisk aquaresis confirmed acute dilutional hyponatremia. CONCLUSION: Apart from elevated AVP-levels, the amount and speed of fluid intake and concomitant low-solute intake constitute important risk factors in the development of clinically relevant hyponatremias in patients undergoing colonoscopies. Understanding that the cause of sodium imbalance in this scenario is multifactorial and complex is pivotal to recognizing and ideally preventing this complication, for which we propose the term "bowel prep hyponatremia".

A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.

BACKGROUND: Hereditary renal hypouricemia (RHUC) is a genetically heterogenous disorder characterized by defective uric acid (UA) reabsorption resulting in hypouricemia and increased fractional excretion of UA; acute kidney injury (AKI) and nephrolithiasis are recognized complications. Type 1 (RHUC1) is caused by mutations in the SLC22A12 gene, whereas RHUC2 is caused by mutations in the SLC2A9 gene. Patient ethnicity is diverse but only few Caucasian families with an SLC2A9 mutation have been reported. METHODS: The current report describes the clinical history, biochemical and molecular genetics findings of a native Austrian family with RHUC2. The propositus presented with 2 episodes of exercise-induced AKI and exhibited profound hypouricemia. Mutational screening of the SLC22A12 and SLC2A9 genes was performed. RESULTS: The molecular analyses revealed the homozygous c.512G>A transition that leads to the p.Arg171His missense substitution in SLC2A9, confirming the diagnosis of RHUC2. Segregation study of the causal mutation revealed that the mother and elder sister were heterozygous carriers, whereas the younger sister was found to be homozygous. CONCLUSION: We report the identification of a novel mutation in SLC2A9 as the cause of RHUC2 in a native Austrian family. We show that glucose transporter 9 mutations cause severe hypouricemia in homozygous individuals and confirm the high risk of AKI in male individuals harbouring these mutations. In our literature review, we provide an overview of the putative underlying pathophysiology, potential renal complications, findings on kidney biopsy as well as potential long-time renal sequelae.

Diabetes-related end-stage renal disease in Austria 1965-2013.

BACKGROUND: Diabetic kidney disease (DKD) is the leading cause of end-stage renal disease (ESRD) in Austria, accounting for a high burden of morbidity and mortality. In this nationwide study, we aimed to evaluate the incidence and fate of patients with DKD-ESRD over time. METHODS: Data (collected annually) from the Austrian Dialysis- and Transplant Registry were analysed for the development of ESRD due to DKD from 1965 to 2013. RESULTS: Over 48 years, 8322 and 22 975 patients with ESRD due to diabetes and non-diabetes, respectively, entered dialysis. While DKD-ESRD-patients were not dialysed until 1974, in 1975 seven type 1- and one type 2-diabetics started dialysis (1.06 per million population-PMP). In the mid-eighties, DKD-ESRD-patients increasingly were accepted for dialysis (1986: 14.53 PMP, 1996: 31.16 PMP). After a peak incidence of 415 diabetic ESRD-patients in 2006 (50.19 PMP), numbers decreased continuously thereafter (2013: 299 patients, 35.73 PMP). Mean age at start of dialysis increased over time and was lower in type 1- and higher in type 2- compared with non-diabetic patients. Five-year-survival-probability in two diabetic ESRD-cohorts, starting in 2007/08 and 10 years earlier was calculated. Five-year-survival was 28% in 1997/98 and 37.5% in 2007/08. Adjusted relative risk reduction was 33% (HR 0.67, CI 95% 0.57-0.78; P < 0.001). CONCLUSION: Despite a growing prevalence of diabetes, the incidence of diabetic ESRD has decreased after 2006. Five-year-survival-probability has improved over 10 years. Multifactorial therapeutic interventions may have resulted in this improvement.

Mortality from infections and malignancies in patients treated with renal replacement therapy: data from the ERA-EDTA registry.

BACKGROUND: Infections and malignancies are the most common non-cardiovascular causes of death in patients on chronic renal replacement therapy (RRT). Here, we aimed to quantify the mortality risk attributed to infections and malignancies in dialysis patients and kidney transplant recipients when compared with the general population by age group and sex. METHODS: We followed 168 156 patients included in the ERA-EDTA registry who started RRT in 1993-2007 until 1 January 2012. Age- and cause-specific mortality rates per 1000 person-years (py) and mortality rate ratios (MRRs) compared with the European general population (WHO) were calculated. To identify risk factors, we used Cox regression. RESULTS: Infection-related mortality was increased 82-fold in dialysis patients and 32-fold in transplant recipients compared with the general population. Female sex, diabetes, cancer and multisystem disease were associated with an increased risk of infection-related mortality. The sex difference was most pronounced for dialysis patients aged 0-39 years, with women having a 32% (adjusted HR 1.32 95% CI 1.09-1.60) higher risk of infection-related mortality than men. Mortality from malignancies was 2.9 times higher in dialysis patients and 1.7 times higher in transplant recipients than in the general population. Cancer and multisystem disease as primary causes of end-stage renal disease were associated with higher mortality from malignancies. CONCLUSION: Infection-related mortality is highly increased in dialysis and kidney transplant patients, while the risk of malignancy-related death is moderately increased. Young women on dialysis may deserve special attention because of their high excess risk of infection-related mortality. Further research into the mechanisms, prevention and optimal treatment of infections in this vulnerable population is required.

Use of sodium thiosulphate in a multi-interventional setting for the treatment of calciphylaxis in dialysis patients.

BACKGROUND: Calciphylaxis is a life-threatening complication in patients with end-stage renal disease (ESRD). No established therapy exists so far. The aim of the present study was to determine the therapeutic response to a multi-interventional treatment regimen with consistent use of sodium thiosulphate (STS) in an Austrian cohort of calciphylaxis patients. METHODS: We retrospectively collected demographic, clinical and laboratory data on 27 calciphylaxis patients treated with STS at seven Austrian dialysis centres between June 2004 and November 2010. RESULTS: Twenty-seven dialysis patients (68 ± 12 years) were treated with STS for a median (25th, 75th percentile) of 96 (54, 133) days. Seven patients (26%) suffered from proximal-type, and 20 patients (74%) from distal-type calciphylaxis. Fourteen patients (52%) showed a complete remission, five patients (19%) a partial remission and eight patients (30%) progression that resulted in amputation in four patients. During a median follow-up of 101 (79, 273) days, 14 patients died (52%). Non-survivors were older (P = 0.04), showed higher CRP values (P = 0.04), presented more frequently with proximal-type calciphylaxis (P = 0.03), had a higher disease severity score at diagnosis (P = 0.01), were treated more often with antibiotics (P = 0.01) and cinacalcet (P = 0.03) and had a lower remission rate during treatment (P = 0.004) than did survivors. The use of antibiotics and cinacalcet, disease severity at diagnosis and remission rates were found to be significant survival predictors in logistic regression analysis. CONCLUSIONS: Calciphylaxis remains a serious complication with high mortality. Early and consistent therapy including STS may help to improve the disease outcome.

A target-oriented algorithm for citrate-calcium anticoagulation in clinical practice.

BACKGROUND/AIMS: Because of a high monitoring demand and an ensuing need for automation of regional citrate anticoagulation (RCA), a new semi-automated target-oriented algorithm was developed. The aim of this study was the evaluation of its functionality and safety. METHODS: Fourteen haemodialysis patients were treated 5 times consecutively with RCA. Samples were drawn pre- and post-infusion once per hour. Electrolytes, blood cell counts, acid-base and coagulation parameters were analyzed. RESULTS: Mean ionized calcium (Ca(2+)) values pre-filter were 0.23 and 0.33 mmol/l in the 0.2 and 0.3 mmol/l target groups, respectively. Extraction ratios for citrate and total calcium through the dialysis filter were constant during the entire treatment (83 and 68%, respectively). Citrate accumulation was avoided. CONCLUSION: The new algorithm enables safe and accurate RCA. By regulating Ca(2+) pre-filter using the target-oriented algorithm, the degree of anticoagulation may be easily controlled.

Chronic kidney disease is more prevalent among women but more men than women are under nephrological care : Analysis from six outpatient clinics in Austria 2019.

BACKGROUND: A discrepancy between sex-specific treatment of kidney failure by dialysis (higher in men) and the prevalence of chronic kidney disease in the general population (higher in women) has been reported internationally, but the prevalence by sex has not been described for Austria. Sex disparity among nephrology outpatients has not been studied. METHODS: We employed two formulae (2009 CKD-EPI suppressing the race factor, and race-free 2021 CKD-EPI) to estimate the sex distribution of CKD in Austrian primary care, based on creatinine measurements recorded in a medical sample of 39,800 patients from general practitioners' offices (1989-2008). Further, we collected information from all clinic appointments scheduled at nephrology departments of 6 Austrian hospitals (Wien, Linz, Wels, St. Pölten, Villach, Innsbruck) during 2019 and calculated visit frequencies by sex. RESULTS: Using the 2009 CKD-EPI formula, the prevalence of CKD in stages G3-G5 (estimated glomerular filtration rate < 60 mL/min/1.73 m2) was 16.4% among women and 8.5% among men aged > 18 years who had attended general practitioners' offices in Austria between 1989 and 2008 and had at least one creatinine measurement performed. Using the 2021 CKD-EPI formula, the respective CKD prevalence was 12.3% among women and 6.1% among men. In 2019, 45% of all outpatients at 6 participating nephrology departments were women. The median of nephrology clinic visits in 2019 was two (per year) for both sexes. CONCLUSION: CKD is more prevalent among Austrian women than men. Men are more prevalent in nephrology outpatient services. Research into causes of this sex disparity is urgently needed.

Refeeding Syndrome in Oncology: Report of Four Cases.

The term refeeding syndrome (RFS) refers to the metabolic perturbations and its attendant complications in subjects who are refed after fasting. The syndrome is characterized by profound shifts of electrolytes and fluids. Its consequences are widespread and sometimes fatal. Patients with malignancies are especially vulnerable due to the presence of multiple comorbidities. We report the course of four patients with malignant or hematological disorders who developed RFS while being treated for their underlying illness. All physicians caring for susceptible patients should be cognizant of the risks of refeeding and treat RFS appropriately to reduce patient morbidity as well as mortality.

[Peritoneal dialysis in patients with polycystic kidney disease]. / Peritonealdialyse bei Patienten mit Polyzystischer Nierendegeneration.

In Austria, patients with end-stage renal disease caused by polycystic kidney disease are less frequently treated with peritoneal dialysis (PD) than patients with noncystic renal diseases (6% versus 8%). In contrast, the United States renal data system reports that more than one fifth of patients with polycystic kidney disease choose PD as their initial form of renal replacement therapy. The reasons for this difference are unknown. Extrarenal manifestations of the disease, such as diverticulosis, development of hernias or vascular aneurysms, may theoretically promote the occurrence of complications typically related to PD. However, studies undertaken to clarify these questions did not find any difference in the rates of peritonitis caused by diverticulosis or Gram-negative bacteria, and no differences were seen with respect to vascular complications. Nevertheless, in comparison with the general population, patients with polycystic kidney disease are more likely to develop hernias, and the incidence of herniation may be further increased by PD. In conclusion, patients with polycystic kidney disease who also have abdominal complaints such as meteorism and discomfort, or lumbago resulting from the markedly enlarged kidneys, should not be actively advised to have PD treatment. The same is true for patients with recurrent hernias. However, the technical survival, quality of dialysis, duration of therapy and rates of complications in PD are comparable in patients with cystic or noncystic kidney disease, and therefore all patients with polycystic kidney disease who do not have abdominal complaints or history of recurrent hernias should be informed that PD is an adequate form of renal replacement therapy, equally effective as hemodialysis.

Interfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease.

INTRODUCTION: Globotriaosylceramide (Gb3, CD77) represents a pivotal part of the cell membrane. Measuring the urinary Gb3 content can be used to screen patients with chronic kidney disease (CKD) for Fabry disease, a disorder caused by hampered Gb3 degradation. However, little is known about factors influencing urinary Gb3 excretion other than Fabry disease. The aim of the present study was to identify routine diagnostic parameters as predictors of urinary Gb3 excretion in patients with CKD. METHODS: Our study included 609 subjects with CKD stage I-V. We analyzed the influence of age, gender, renal function, urinary cell content and chemical characteristics on urinary Gb3 concentrations (total Gb3, Gb3-24 isoform, and Gb3-24:18 isoform ratio), determined by direct electrospray ionization mass spectrometry. RESULTS: In 609 subjects the median total urinary Gb3 was 233 ng/mg and the Gb3-24:18 isoform ratio was 1.2. Twenty-one patients, none of whom had Fabry disease, had a Gb3-24:18 isoform ratio ≥2.3. Females excreted a higher total amount of Gb3, but the Gb3-24:18 isoform ratio was comparable to males. Renal function and age had no influence on total Gb3, Gb3 isoforms or the ratio. Only a distinct load of bacteria and leukocytes was associated with an increased Gb3 excretion. Urinary leukocytes, erythrocytes, bacteria, or protein content did not affect the Gb3-24:18 isoform ratio. CONCLUSION: The Gb3-24:18 isoform ratio is unaffected by several potential influencing variables and may thus be applied for screening for Fabry disease in unselected cohorts of patients presenting with CKD.

Truth is a daughter of time: a case of MELAS diagnosed 25 years after initial manifestation.

The acronym MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) belies the true scope of one of the most prevalent mitochondriopathies in adults. While the original description focused on neuromuscular symptoms, we now recognize this syndrome as genetically well defined but phenotypically profoundly heterogeneous, as exemplified by our experience. Here we report the case of a man who initially presented in 1986. In hindsight, his was a classic manifestation of MELAS, but the illness was ascribed to an ill-defined viral encephalitis. Over the years, diabetes and hearing impairment developed and his functional status deteriorated progressively. It took the quarter of a century to arrive at the correct diagnosis. It is worthwhile to keep an open mind when dealing with chronically ill patients with a seemingly clear-cut diagnosis.

Leptospirosis and renal failure: a case series.

Leptospirosis is a ubiquitous and potentially fatal zoonosis with protean manifestations. Human infection commonly occurs through contact with contaminated water or soil. In developed countries, leisure or household activities are increasingly associated with the disease. Within few months, we encountered five unrelated and autochthonous cases of severe leptospirosis, three of them requiring interim dialysis. In this case series, we present their clinical course. Furthermore, we provide an overview on the spectrum of organ involvement, with an emphasis on kidney injury, and comment on pitfalls in establishing the diagnosis. The considerable variance in presentation-with admissions both to internal and neurological units-emphasises the high index of suspicion required to arrive at the right diagnosis, particularly in countries of perceived low risk such as Austria.

Three solid malignancies and a myelodysplastic syndrome with a protracted course after kidney transplantation.

Although a well-known complication after transplantation, multiple non-skin malignancies within a patient are rare. We report on a kidney transplant recipient who over the course of 20 years developed breast cancer twice, a uroepithelial carcinoma, and myelodysplasia transforming into acute leukaemia. Breast cancer was treated as usual. The transitional cell carcinoma was managed with partial cyst ureterectomy with transposition of the native ureter to the graft. Withdrawal of immunosuppression followed under a "watchful waiting" regime. In conclusion, alertness is requested regarding development of malignancies. Creative solutions are necessary in the management of such patients. Under exceptional circumstances, withdrawal of immunosuppression may be an option.

Association of increased arterial wave reflections with decline in renal function in chronic kidney disease stages 3 and 4.

BACKGROUND: Increased arterial wave reflections predict cardiovascular events in dialysis patients. Their impact on the progression of renal disease has not been determined. METHODS: We prospectively quantified wave reflections as pressure augmentation (AP) and augmentation index (AIx) using radial applanation tonometry and a transfer function, in 111 patients (mean age 53.6 years; 71 men, 31 diabetics) with chronic kidney disease not requiring dialysis. Primary endpoint was a composite of doubling of serum creatinine, need for dialysis, and transplantation. Secondary endpoint was a combination of renal and cardiovascular events. RESULTS: After a mean follow-up of 41.3 months, 37 and 46 patients reached the primary and the secondary endpoint. AIx and AP proved statistically significant predictors of the renal endpoint (P < 0.05 for all), with a 2.5- and 3-fold increased risk for patients in the highest vs. the lowest tertile, respectively. After adjustment for mean blood pressure (MBP), age, gender, diabetes, serum albumin, hemoglobin, urine albumin/creatinine ratio, and renal function at baseline, AIx (hazard ratio 1.474/10% increase in AIx, P = 0.04) as well as AP (hazard ratio 1.559/10 mm Hg increase in AP, P = 0.04) remained significant predictors of the renal endpoint. In addition, AIx and AP were significant (P < 0.05) predictors of the combined cardiorenal endpoint in univariate analysis and multivariable models. CONCLUSION: Increased arterial wave reflections are independent predictors of renal as well as cardiorenal events in patients with chronic kidney disease.