Phospholipase A2 Receptor Antibody-Positive Pregnancy: A Case Report.

Renal course and clinical outcomes in pregnant women with primary membranous nephropathy are not completely understood. In addition, the use of autoantibodies to M-type phospholipase A2 receptor (PLA2R) as a serologic marker throughout pregnancy and postpartum in the mother and baby is not yet fully elucidated. We followed up a pregnant woman with primary membranous nephropathy during pregnancy and postpartum and describe the clinical course and outcomes of mother and baby and the course of PLA2R antibody titers. We show evidence of transplacental transfer of PLA2R antibody from mother to fetus. In addition, we observe the effect of breastfeeding in a PLA2R antibody-positive pregnancy and describe the transfer of this antibody into breast milk. Although pregnancy in women with underlying PLA2R antibody-positive membranous nephropathy is possible, there is an increase in risk to both mother and fetus, requiring a multidisciplinary team approach and careful monitoring of both neonate and mother during pregnancy and postpartum.

Changes to the end-stage renal disease quality incentive program.

Monitoring the quality of dialysis care has long been a component of the Medicare ESRD program. As part of the 2008 Medicare Improvements for Patients and Providers Act (MIPPA), Congress mandated the Quality Incentive Program (QIP), which linked measures of care quality to payments. The legislation embraced the idea that this linkage of federal money to performance would encourage the purchase of greater 'value.' The first 2 program years for the QIP use a simple scoring methodology and a limited scope of quality metrics. For payment year 2014 (performance period calendar year 2012), the program changes substantially, with an expanded number of quality measures and a more complex scoring methodology. In this article, we describe the program structure, quality measures, scoring system, and financial impact.

The QIP: will it improve dialysis care? An overview.

The Centers for Medicare & Medicaid Services End-Stage Renal Disease Quality Incentive Program is a pay-for-performance initiative that imposes dialysis payment reductions of up to 2% for suboptimal quality. In payment years 2012 and 2013 the methodology is simple, a point system based on performance in dialysis adequacy and anemia. In payment year 2014 (performance period begins Jan. 1, 2012) the QIP changes substantially, with a methodology that more closely resembles the Medicare Hospital Inpatient Value-Based Purchasing Program. Succeeding with the QIP will require both providing high quality care for a wider variety of measures, and a clear and complete understanding of the program structure and the new scoring methodology. In this review we discuss the QIP, with a comprehensive explanation of measures and scoring procedure.

Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy. Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD). To date, only 3 different heterozygous REN mutations have been published. We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1ß) genes. We identified one kindred with a novel thymidine to cytosine mutation at position 28 in the REN complementary DNA, corresponding to a tryptophan to arginine substitution at amino acid 10, which is found within the signal sequence (c.28T>C; p.W10R). On this basis, we conclude that REN mutations are rare events in patients with CKD. Within the kindred, we found affected individuals over 4 generations who carried the novel REN mutation and were characterized by significant anemia, hyperuricemia, and CKD. Anemia was severe and disproportional to the degree of decreased kidney function. Because all heterozygous REN mutations that have been described are localized in the signal sequence, screening of the REN gene for patients with CKD with hyperuricemia and anemia may best be focused on sequencing of exon 1, which encodes the signal peptide.

Hypothalamic Hamartomas: Evolving Understanding and Management.

Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in GLI3 and other patterning genes are involved in HH pathogenesis. About 50%-80% of children with HH have severe rage and aggression and a majority of patients exhibit externalizing disorders. Behavioral disruption and intellectual disability may predate epilepsy. Neuropsychological, sleep, and endocrine disorders are typical. The purpose of this article is to provide a summary of the current understanding of HH and to highlight opportunities for future research.

Lung ultrasonography in end-stage renal disease: moving from evidence to practice-a narrative review.

Traditionally, point of care ultrasonography in nephrology has been used for renal biopsies and dialysis line placement. However, there is an emerging literature supporting the value of point of care lung ultrasonography in the assessment of volume status for dialysis patients. We conducted a review and identified 12 studies that examined the utility of lung ultrasonography in assessing volume status in patients with end-stage renal disease. We conclude that lung ultrasonography can be used to determine volume status in chronic dialysis patients by identifying lung congestion using the B-line score. Incorporating this technique into practice may have significant diagnostic and prognostic value for this high-risk population, as it provides the nephrologist with a useful bedside technique to assess extravascular lung water. Developing competence in lung ultrasonography is straightforward. The nephrology community should consider adding this useful tool into fellowship training, paralleling its broader use in other internal medicine specialties.

Pregnancy outcomes in women on hemodialysis: a national survey.

Background. Pregnancy occurs among 1-7% of women on chronic dialysis. Experience regarding pregnancy and dialysis originates from anecdotal reports, case series and surveys. This survey updates the US nephrologists' experience with pregnancy on hemodialysis (HD) over the past 5 years. We evaluated maternal and fetal outcomes, certain practice patterns such as dialysis regimens utilized and nephrologist knowledge and comfort level when caring for a pregnant patient on HD. Methods. An anonymous Internet-based 23-question survey was e-mailed to end-stage renal disease Networks of America program directors for forwarding to practicing nephrologists. Results. A total of 196 nephrologists responded to the survey, reporting >187 pregnancies. Of the respondents, 45% had cared for pregnant females on HD and 78% of pregnancies resulted in live births. In 44% of the pregnancies a diagnosis of preeclampsia was made. There were no maternal deaths. Nephrologists most commonly prescribe 4-4.5 h of HD 6 days/week for pregnant women on dialysis. Women dialyzed cumulatively for >20 h/week were 2.2 times more likely to develop preeclampsia than those who received ≤20 h of HD per week. Conclusion. Providing intensive HD is a common treatment approach when dialyzing pregnant women. Maternal and fetal outcomes can be improved. There is a trend toward better live birthrates with more intense HD. Whether more cumulative hours of dialysis per week increases the risk of preeclampsia needs to be further investigated.

Recurrent membranous nephropathy and leiomyosarcoma in the renal allograft of a lupus patient.

The frequency of membranous lupus nephritis recurrence (World Health Organization (WHO) class V) in the allograft after renal transplantation is unknown, but it appears uncommon (only two reported cases in the literature). Despite the increased incidence of sarcomas in organ transplant recipients (compared to the general population), non-Kaposi's sarcoma is an uncommon malignancy, and primary tumor involvement of a renal allograft is a rare occurrence. Our patient is a 28 year old female with end-stage renal disease (ESRD) secondary to membranous lupus nephritis who received a living related transplant from her mother. At 26 months post-transplant, she presented with proteinuria and a rise in creatinine (Cr). Allograft biopsy was consistent with recurrent membranous nephropathy. Five weeks later, she was found to have a high-grade leiomyosarcoma originating within the allograft. We reviewed the literature on recurrent post-transplant membranous nephropathy and the possible role of the Epstein-Barr virus (EBV) infection in smooth muscle tumors occurring in organ transplant recipients. We also considered the association of membranous nephropathy and malignancy.