American Journal of Kidney Diseases最新文献

Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are inherited disorders that share many features such as kidney cysts, hypertension, urinary concentrating defects, and progressive chronic kidney disease. Underlying pathogenic mechanisms for both include cilia dysfunction and dysregulated intracellular signaling. ADPKD has been traditionally regarded as an adult-onset disease, whereas ARPKD has been classically described as an infantile or childhood condition. However, clinicians must recognize that both disorders can present across all age groups ranging from fetal life and infancy to childhood and adolescence, as well as adulthood. Here we highlight the points of overlap and distinct features for these disorders with respect to pathogenesis, diagnostic modalities (radiological and genetic), clinical assessment, and early therapeutic management. In particular, we consider key issues at two critical points for transition of care, i.e., fetal life to infancy and adolescence to adulthood. These timepoints are poorly covered in the extant literature. Therefore, we recommend guiding principles for transitions of clinical care at these critical junctures in the lifespan. While there is no cure for polycystic kidney disease (PKD), recent insights into pathogenic mechanisms have identified promising therapeutic targets that are currently being evaluated in a growing portfolio of clinical trials. We summarize the key findings from these largely adult-based trials and discuss the implications for designing child-focused studies. Finally, we look forward to the next horizon for childhood PKD, highlighting gaps in our current knowledge, and discussing future directions and strategies to attenuate the full burden of disease for children affected with PKD.

Hypocalcemia is an uncommon electrolyte abnormality. We evaluated a young woman with episodes of recurrent symptomatic hypocalcemia which had started in her late teens. She was hypertensive and laboratory evaluation revealed an elevated PTH, elevated phosphate, and decreased renal phosphate excretion along with low ionized calcium levels. Her renin and aldosterone levels were elevated. While the response to treatment with calcium and 1,25 vitamin D was modest, her laboratory values and symptoms improved significantly during pregnancy and then recurred post-delivery. Based on clinical and laboratory features, we made a diagnosis of pseudohypoparathyroidism type Ib (PHP1B). Her genomic DNA revealed broad methylation changes at the GNAS locus which encodes the alpha-subunit of the stimulatory G protein (Gα_s) without evidence for a deletion or duplication, consistent with PHP1B. Analyses of several microsatellite markers on chromosome 20 performed on our patient and her parents provided no evidence for paternal uniparental isodisomy/heterodisomy of chromosome 20q13.3 (patUPD20q). The approach to hypocalcemia; classification, clinical features, and genetic/epigenetic basis for pseudohypoparathyroidism; alterations of mineral metabolism in PHP1B and pregnancy; and implications for the high renin and aldosterone levels and hypokalemia are discussed.

Point-of-care ultrasonography (POCUS) allows for real-time bedside imaging and interpretation, enhancing clinical decision-making by addressing focused clinical questions. Historically confined to procedural guidance in nephrology, POCUS is gaining traction for broader diagnostic applications, including comprehensive hemodynamic assessment. This narrative review examines the expanding role of POCUS in nephrology, highlighting its potential to improve patient care and streamline diagnostics while acknowledging associated risks. Improper or untrained use of POCUS can result in patient harm and diagnostic errors, underscoring the need for rigorous training and standardized competency requirements akin to board certification. We advocate for collaboration among nephrology societies to establish universal training frameworks and certification processes. Key elements for successful POCUS integration include learner motivation, structured longitudinal programs, and expert oversight. Additionally, proper understanding and investigator proficiency in POCUS enhance the quality of research output, further advancing the field. By fostering these principles, the nephrology community can maximize POCUS utility, ensuring its safe and effective application in clinical practice while addressing patient care gaps.

Chronic kidney disease (CKD) is globally prevalent, a leading cause of mortality, and is associated with poor patient outcomes and high healthcare costs. Gaps in guideline-concordant care are common across the continuum of CKD. These gaps lead to CKD progression, hospitalizations, and mortality, and are potentiated by existing racial and socioeconomic disparities. A thoughtfully designed population health management approach, that leverages electronic health record, can modernize CKD care delivery and improve outcomes. Such an approach can potentially provide timely, equitable, resource- and cost-efficient care across health systems in a way that is scalable and data driven. Herein, we share our experiences with the implementation of nephrology population health initiatives at the University of Pittsburgh Medical Center across the CKD spectrum, which include ongoing and planned programs in the primary care, kidney-palliative care, kidney transplantation, and transitions of care settings. Further, we discuss the challenges of population health management and future directions that can move healthcare toward personalized medicine.

Rationale & objective: Despite national efforts, uptake of home dialysis (peritoneal dialysis or home hemodialysis) remains low. Characteristics of the built environment may differentially impact home dialysis utilization.

Study design: Retrospective cohort study (2010-2019).

Setting & participants: 1,103,695 adults (aged≥18 years) initiating dialysis in US Renal Data System.

Exposure: We examined three built environment domains based on residential ZIP code: 1) medically underserved area (MUA), defined as neighborhoods with limited primary care access, 2) distance to nearest dialysis facility, and 3) distribution of housing characteristics (structure and overcrowding).

Outcome: Uptake of home dialysis modalities at dialysis initiation.

Analytical approach: We quantified associations between built environment characteristics and home dialysis initiation using multilevel logistic regression, stratified by urbanicity type (urban, suburban, small-town, and rural).

Results: Among adults initiating dialysis, 40.8% lived in MUAs. Across ZIP codes, the mean percentage of overcrowded housing was 4.2% (SD=4.7%) and the percentage of detached housing was 61.1% (SD=21.1%); mean distance to the nearest dialysis facility was 5.5 km (SD=9.1km). Living in MUAs was associated with reduced home dialysis utilization only in urban (odds ratio [OR]=0.94, 95% confidence interval [CI]: 0.91-0.96) and suburban areas (OR=0.92, 95%CI: 0.89-0.94). Similarly, housing overcrowding was associated with decreased home dialysis utilization only in urban (OR=0.88, 95%CI: 0.86-0.89) and suburban areas (OR=0.91, 95%CI: 0.90-0.93). Longer distance to a dialysis facility was the most salient neighborhood factor associated with increased home dialysis utilization in small-towns (OR=1.14, 95%CI: 1.12-1.16) and rural areas (OR=1.17, 95%CI: 1.15-1.19).

Limitation: Housing characteristics were measured at the ZIP code level.

Conclusions: Built environment characteristics associated with home dialysis uptake vary by urbanicity. Policies should address built environment barriers specific to urbanicity level. For example, increasing the frequency of dialysate delivery schedules could address housing space constraints in urban/suburban areas, while promoting home dialysis might be more effective for patients living far from dialysis centers in small-town and rural areas.