A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice

Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for early detection and meaningful markers. However, because the diagnosis and treatment of Fabry disease can vary according to the expertise of physicians, we evaluated the opinions of Korean specialists. Methods: A questionnaire regarding the management of Fabry nephropathy was emailed to healthcare providers with the experience or ability to treat individuals with Fabry nephropathy. Results: Of the 70 experts who responded to the survey, 43 were nephrologists, and 64.3% of the respondents reported having treated patients with Fabry disease. Pediatricians are treating primarily patients with classic types of the disease, while nephrologists and cardiologists are treating more patients with variant types. Only 40.7% of non-nephrologists agreed that a kidney biopsy was required at the time of diagnosis, compared with 81.4% of nephrologists. Thirty-eight of 70 respondents (54.3%) reported measuring globotriaosylsphingosine (lyso-Gb3) as a biomarker. The most common period to measure lyso-Gb3 was at the time of diagnosis, followed by after ERT, before ERT, and at screening. For the stage at which ERT should begin, microalbuminuria and proteinuria were chosen by 51.8% and 28.6% of respondents, respectively. Conclusion: Nephrologists are more likely to treat variant Fabry disease rather than classic cases, and they agree that ERT should be initiated early in Fabry nephropathy, using lyso-Gb3 as a biomarker.

Advanced chronic kidney disease: a strong risk factor for Clostridium difficile infection

BACKGROUND/AIMS: It has been suggested that chronic kidney disease (CKD) is a risk factor for Clostridium difficile infection (CDI) and is associated with increased mortality among patients infected with C. difficile. However, recent studies of the clinical impact of CKD on CDI in Asians are still insufficient. We sought to determine the relationship between CKD and CDI in a Korean population. METHODS: This was a single-center, retrospective case-control study. In total, 171 patients with CDI were included as cases and 342 age- and gender-matched patients without CDI were used as controls. We compared the prevalence of CKD in the study sample and identified independent risk factors that could predict the development or prognosis of CDI. RESULTS: Independent risk factors for CDI included stage IV to V CKD not requiring dialysis (odds ratio [OR], 2.90) and end-stage renal disease requiring dialysis (OR, 3.34). Patients with more advanced CKD (estimated glomerular filtration rate < 30) and CDI showed higher in-hospital mortality and poorer responses to the initial metronidazole therapy. CONCLUSIONS: More advanced CKD is an independent risk factor for CDI and is associated with higher in-hospital mortality and poor treatment responses in CDI patients. Thus, in CKD patients, careful attention should be paid to the occurrence of CDI and its management to improve the outcome of CDI.

Proinflammatory CD14+CD16+ monocytes are associated with vascular stiffness in predialysis patients with chronic kidney disease

BACKGROUND: Chronic inflammation is frequently noted in patients with chronic kidney disease (CKD) and contributes to the development and progression of cardiovascular diseases. Monocytes are heterogeneous populations of cells, and they can be divided into subtypes with different phenotypes and functions based on CD14 and CD16 positivity. This study examined whether the proinflammatory CD14+CD16+ monocyte subset expands in predialysis CKD patients, and also whether the expansion of these cells is closely associated with systemic inflammation and cardiovascular risk factors. METHODS: The percentages of proinflammatory CD14+CD16+ monocytes were analyzed in 111 predialysis CKD patients using a flow cytometer, and they were compared with brachial-ankle pulse wave velocity as well as the cytokine plasma levels and other clinical parameters. RESULTS: The proportion of CD14+CD16+ monocytes was significantly higher in patients with advanced stages of CKD than in patients with the early stages. Interleukin-6 levels were also high in patients with advanced stages of CKD. The expansion of CD14+CD16+ monocytes showed significant positive correlations with the high-sensitive C-reactive protein levels, and negative correlations with the levels of serum albumin, hemoglobin, and 25(OH)-vitamin D. In addition, the expansion of CD14+CD16+ monocytes was an independent factor correlated with brachial-ankle pulse wave velocity in diabetic CKD patients. CONCLUSION: Expansion of the proinflammatory CD14+CD16+ monocyte subset partially accounts for chronic inflammation, malnutrition, and atherosclerosis in CKD

The Role of Urinary Liver-Type Fatty Acid-Binding Protein in Critically Ill Patients

Although several urinary biomarkers have been validated as early diagnostic markers of acute kidney injury (AKI), their usefulness as outcome predictors is not well established. This study aimed to determine the diagnostic and prognostic abilities of urinary liver-type fatty acid-binding protein (L-FABP) in heterogeneous critically ill patients. We prospectively collected data on patients admitted to medical and surgical intensive care units (ICUs) from July 2010 to June 2011. Urine neutrophil gelatinase-associated lipocalin (NGAL) and L-FABP at the time of ICU admission were quantitated. Of the 145 patients, 54 (37.2%) had AKI defined by the Acute Kidney Injury Network (AKIN) criteria. AKI patients showed significantly higher level of urinary NGAL and L-FABP and also higher mortality than non-AKI patients. The diagnostic performances, assessed by the area under the ROC curve, were 0.773 for NGAL and 0.780 for L-FABP, demonstrating their usefulness in diagnosing AKI. In multivariate Cox analysis, urinary L-FABP was an independent predictor for 90-day mortality. Urinary L-FABP seems to be promising both for the diagnosis of AKI and for the prediction of prognosis in heterogeneous ICU patients. It needs to be further validated for clinical utility.

Clinical Characteristics and Outcomes of Septic Acute Kidney Injury in Critically Ill Patients / 대한신장학회지

PURPOSE: This study was to determine the clinical characteristics and outcomes of critically ill patients with septic acute kidney injury (AKI). METHODS: We retrospectively collected data of patients with AKI who were > or =18 years of age and admitted to the intensive care unit (ICU) for > or =24 hours from April 2007 to December 2009, and compared the clinical characteristics and outcomes of patients with and without sepsis. RESULTS: Of the 1,075 patients, 333 had AKI, as defined by the RIFLE criteria, and 134 of them had AKI with sepsis. Septic AKI had significantly higher SAPS II and SOFA scores, and required more mechanical ventilation and vasoactive drugs than non-septic AKI. Patients with septic AKI progressed more to the failure category of the RIFLE criteria. Patients with septic AKI had higher in-hospital mortality and required more RRT, compared to patients with non-septic AKI. Amongst survivors, patients with septic AKI were more likely to recover renal function. A higher SAPS II score and a greater requirement for vasoactive drugs and renal replacement therapy were independently associated with increased in-hospital mortality in septic AKI. CONCLUSION: Patients with septic AKI have a higher burden of illness with an increased risk of death, but renal function recovers better in survivors of septic AKI.

A Case of Postrenal Acute Kidney Injury Complicating Retroperitoneal Fibrosis Associated with Autoimmune Pancreatitis / 대한신장학회지

Autoimmune pancreatitis is a recently established clinicopathologic entity often associated with various types of other autoimmune diseases. We report a case of postrenal acute kidney injury (AKI) due to retroperitoneal fibrosis associated with autoimmune pancreatitis. The seventy one year old male patient was admitted because of oliguria and lower extremity edema. He had been diagnosed to have autoimmune pancreatitis and retroperitoneal fibrosis by increased serum IgG and IgG4 level with the presence of rim like attenuation around pancreas and the retroperitoneal fibrosing mass in abdominal CT scan 1 year ago but was lost to follow up. Magnetic resonance cholangiopancretogram and follow up abdominal CT scan showed progressed retroperitoneal fibrosis with newly developed bilateral hydronephrosis and atrophied left kidney despite partial improvement in pancreatitis. Because of progressively rising serum creatinine and oliguria, percutaneous nephrostomy in right kidney was performed. Steroid treatment was initiated with insertion of double J catheter at right ureter and renal function gradually returned. We report here a rare case of postrenal AKI developed in unilateral functioning kidney complicated by combined retroperitoneal fibrosis and autoimmune pancreatitis.

Hemophagocytic Syndrome in a Patient with Acute Tubulointerstitial Nephritis Secondary to Hepatitis A Virus Infection

Hepatitis A virus (HAV) infection is generally a self-limited disease, but the infection in adults can be serious, to be often complicated by acute kidney injury (AKI) and rarely by virus-associated hemophagocytic syndrome (VAHS). Our patient, a 48-yr-old man, was diagnosed with HAV infection complicated by dialysis-dependent AKI. His kidney biopsy showed acute tubulointerstitial nephritis with massive infiltration of activated macrophages and T cells, and he progressively demonstrated features of VAHS. With hemodialysis and steroid treatment, he was successfully recovered.

A Case of Peritonitis Induced by Small Bowel Calcification and Microperforation: Sustained Secondary Hyperparathyroidism in a Patient with Continuous Peritoneal Dialysis / 대한신장학회지

Secondary hyperparathyroidism is a common complication of chronic kidney disease and known to be associated with soft tissue calcification affecting patients' morbidity and mortality. However few cases of intestinal calcification related to secondary hyperparathyroidism have been reported. Herein we report a case of peritonitis complicating small intestinal perforation in a patient who had undergone peritoneal dialysis and had sustained hyperparathyroidism. Diffuse calcifications and perforations in small intestine were identified in abdomino-pelvic CT scan as well as in resected small intestine. Because of relapsing microperforation and resultant intra-abdominal abscess, the patient has been in fasting status depending on total parenteral nutrition for over 8 months after surgery.