Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
Pediatric nephrology (Berlin, Germany)
Public policy and programs - Missing links in growing home dialysis in the United States.
Seminars in dialysis
BACKGROUND: Myelin figures, or zebra bodies, seen on electron microscopy were historically considered pathognomonic of Fabry disease, a rare lysosomal storage disorder caused by alpha-galactosidase A deficiency and associated with X-linked recessive mode of inheritance. More recently, iatrogenic phospholipidosis has emerged as an important alternate cause of myelin figures in the kidney.METHODS: We report two families with autosomal dominant nephropathy presenting with proteinuria and microscopic hematuria, and the kidney biopsies were notable for the presence of myelin figures and zebra bodies.RESULTS: Laboratory and genetic work-up for Fabry disease was negative. Genetic testing in both families revealed the same heterozygous missense mutation in LMX1B (C.737G>A, p.Arg246Gln). LMX1B mutations are known to cause nail-patella syndrome, featuring dysplastic nails and patella with or without nephropathy, as well as isolated LMX1B-associated nephropathy in the absence of extrarenal manifestations.CONCLUSIONS: LMX1B mutation-associated nephropathy should be considered in hereditary cases of proteinuria and/or hematuria, even in the absence of unique glomerular basement membrane changes indicative of nail-patella syndrome. In addition, LMX1B mutation should be included in the differential diagnosis of myelin figures and zebra bodies on kidney biopsy, so as to avoid a misdiagnosis.
View details for DOI 10.1007/s00467-020-04564-w
View details for PubMedID 32356190
Safety and efficacy of the Tablo hemodialysis system for in-center and home hemodialysis.
Hemodialysis international. International Symposium on Home Hemodialysis
Patients with end-stage kidney disease (ESKD) require dialysis or a kidney transplant for survival and over 760 000 patients now benefit from these therapies in the United States. Dialysis in the United States in the late 1960s and early 1970s was often done in the home. After the advent of Medicare coverage for ESKD in 1972 and the subsequent easier access to center based hemodialysis, the use of home modalities dramatically declined. This stands in contrast to home dialysis uptake in other industrialized healthcare systems where both peritoneal dialysis and home hemodialysis are more frequently used. Characteristics unique to the US healthcare system as well as the cultures of providers (physicians and dialysis providers) and recipients of ESKD care are hypothesized as the main reasons for observed differences in home dialysis use. To address these issues, the Centers for Medicare and Medicaid Services have recently proposed new payment programs under an Executive Order from the President of the United States, with the explicit goal of increasing the number of patients using home dialysis. This perspective outlines policy opportunities and programs with a proven track record of home dialysis growth in other countries or hypothesized promise based on identified barriers and needs.
View details for DOI 10.1111/sdi.12850
View details for PubMedID 31943408
The effect of blood flow rate on dialysis recovery time in patients undergoing maintenance hemodialysis: A prospective, parallel-group, randomized controlled trial
2019; 23 (2): 223?29
Timing of initiation of dialysis: time for a new direction?
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
2012; 21 (3): 329-333
INTRODUCTION: Home hemodialysis remains underutilized despite observational data indicating more favorable outcomes with home compared with in-center hemodialysis. The Tablo Hemodialysis system is designed to be easy to learn and use and to facilitate adoption of home hemodialysis. The objective of the current investigational device exemption (IDE) study was to evaluate the safety and efficacy of Tablo managed in-center by health care professionals and in-home by patients and/or caregivers.METHODS: A prospective, multicenter, open-label, crossover trial comparing in-center and in-home hemodialysis using Tablo. There were 4 treatment periods during which hemodialysis was prescribed 4 times per week: 1-week Run-In, 8-week In-Center, 4-week Transition, and 8-week In-Home. The primary efficacy endpoint was weekly standard Kt/Vurea ?2.1. The secondary efficacy endpoint was delivery of ultrafiltration (UF) within 10% of prescribed UF. We collected safety and usability data.FINDINGS: Thirty participants enrolled and 28 completed all trial periods. Adherence to the protocol requirement of 4 treatments per week was 96% in-center and 99% in-home. The average prescribed and delivered session lengths were 3.4hours for both the In-Center and the In-Home periods. The primary efficacy endpoint for the intention-to-treat cohort was achieved in 199/200 (99.5%) of measurements during the In-Center period and 168/171 (98.3%) In-Home. The average weekly standard Kt/Vurea was 2.8 in both periods. The secondary efficacy UF endpoint was achieved in the ITT cohort in 94% in both in-center and in-home. Two prespecified adverse events (AEs) occurred during the In-Center period and 6 in the In-Home period. None of the AEs were deemed by investigators as related to Tablo. The median resolution time of alarms was 8seconds in-center and 5seconds in-home.CONCLUSION: Primary and secondary efficacy and safety endpoints were achieved during both In-Center and In-Home trial periods. This study confirms that Tablo is safe and effective for home hemodialysis use.
View details for DOI 10.1111/hdi.12795
View details for PubMedID 31697042
Reversible hepatic and lipid abnormalities with nonprescription anabolic-androgenic steroid use in 2 HIV-infected men
CLINICAL INFECTIOUS DISEASES
2006; 42 (1): 151-152
The past 15 years have seen tremendous growth in the initiation of dialysis at higher levels of kidney function in the setting of mixed evidence and at great societal economic cost. We review recent data on the early dialysis initiation trend, the clinical and economic impact of early dialysis initiation and the future implications for the management of advanced chronic kidney disease (CKD).The percentage of patients who initiate dialysis with an estimated glomerular filtration rate (eGFR) above 10 ?ml/min/1.73m(2) is now greater than 50%, including 20% who initiate with an eGFR above 15 ml/min/1.73m(2). The drivers behind these findings are probably diverse but recent literature does not seem to support a higher symptom burden among the ageing CKD population as the major cause. The Initiating Dialysis Early And Late (IDEAL) trial provides guidance on the safety of waiting for symptoms or lower levels of estimated glomerular filtration rate prior to beginning dialysis. In addition, economic analyses based on the IDEAL and US Renal Data System findings suggest that significant cost savings could be achieved by reversing the early initiation trend.These findings should help clinicians and policy makers looking to rein in costs while maintaining the quality of CKD care.
View details for DOI 10.1097/MNH.0b013e328351c244
View details for Web of Science ID 000302769500014
View details for PubMedID 22388556
View details for PubMedCentralID PMC3458516