Fertility Management in Cystinosis: A Clinical Perspective.

Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ. Although cystinosis was once considered a fatal pediatric disease, patients with cystinosis are living well into adulthood with advances in medical care, including kidney transplant and early and continuous use of cysteamine therapy.

Persistent Increase in Serum Ferritin Levels despite Converting to Permanent Vascular Access in Pediatric Hemodialysis Patients: Pediatric Nephrology Research Consortium Study.

Our objective was to examine serum ferritin trends after conversion to permanent vascular access (PVA) among children who started hemodialysis (HD) using tunneled cuffed catheters (TCC). Retrospective chart reviews were completed on 98 subjects from 20 pediatric HD centers. Serum ferritin levels were collected at the creation of PVA and for two years thereafter.

Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to "A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis").

The aim of this letter to the editor is to summarize the results from three clinical trial programs evaluating delayed-release cysteamine bitartrate (DR-CYS), which demonstrated the long-term clinical benefits in patients with nephropathic cystinosis when dosed every 12 h. The authors of "A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis" presented recommendations altering the dosage and dosing scheme from what has been previously approved by the FDA for DR-CYS. In this letter to the editor, we critique the authors' aforementioned article as it is a retrospective analysis of a small number of patients and does not follow the dosing recommendation by the FDA for equivalent dosing of DR-CYS to immediate-release cysteamine bitartrate (IR-CYS).

End Point Considerations for Clinical Trials in Enteric Hyperoxaluria.

Enteric hyperoxaluria is a medical condition characterized by elevated urinary oxalate excretion due to increased gastrointestinal oxalate absorption. Causative features include fat malabsorption and/or increased intestinal permeability to oxalate. Enteric hyperoxaluria has long been known to cause nephrolithiasis and nephrocalcinosis, and, more recently, an association with CKD and kidney failure has been shown.

Adherence to the 2017 Clinical Practice Guidelines for Pediatric Hypertension in Safety-Net Clinics.

Importance: The 2017 Clinical Practice Guideline (CPG) for the diagnosis and management of pediatric hypertension (PHTN) categorizes a greater proportion of children with elevated blood pressure and PHTN, yet several barriers to CPG adherence have been noted.

Objective: To assess adherence to the 2017 CPG for the diagnosis and management of PHTN and use of a clinical decision support (CDS) tool to calculate blood pressure percentiles.

Design, Setting, And Participants: This cross-sectional study used electronic health record-extracted data from January 1, 2018, to December 31, 2019, among patients visiting 1 of 74 federally qualified health centers in AllianceChicago, a national Health Center Controlled Network.

Perspectives of Primary Care Clinicians on the Diagnosis and Treatment of Pediatric Hypertension.

The purpose of this study was to contextualize the challenges of diagnosing and managing pediatric hypertension (pHTN) in federally qualified health centers. We conducted a survey among primary care clinicians (N = 72) who treat children (3-17 years old) in a national network of health centers. Clinicians reported practices of blood pressure (BP) measurement, barriers to diagnosis and management of pHTN, and use of population health tools.

A stakeholder-driven method for selecting implementation strategies: a case example of pediatric hypertension clinical practice guideline implementation.

Background: This article provides a generalizable method, rooted in co-design and stakeholder engagement, to identify, specify, and prioritize implementation strategies. To illustrate this method, we present a case example focused on identifying strategies to promote pediatric hypertension (pHTN) Clinical Practice Guideline (CPG) implementation in community health center-based primary care practices that involved meaningful engagement of pediatric clinicians, clinic staff, and patients/caregivers. This example was chosen based on the difficulty clinicians and organizations experience in implementing the pHTN CPG, as evidenced by low rates of guideline-adherent pHTN diagnosis and treatment.

Cysteamine bitartrate delayed-release capsules control leukocyte cystine levels and promote statural growth and kidney health in an open-label study of treatment-naïve patients <6 years of age with nephropathic cystinosis.

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disease that is characterized by accumulation of cysteine and formation of crystals within cells of different organs and tissues causing systemic manifestations in childhood that include poor linear growth, ocular involvement, hypothyroidism, and progressive kidney disease. This study was a long-term, prospective open-label evaluation of twice-daily delayed release (DR) cysteamine capsules in cystinosis patients <6 years of age who were naïve to any form of cysteamine treatment. Fifteen treatment-naïve patients <6 years old (mean age 2.

Conversion to permanent vascular access is associated with improved markers of hemodialysis efficacy in children: Pediatric nephrology research consortium study.

Background And Objectives: Arteriovenous fistulae (AVF) and grafts (AVG) are preferred permanent vascular access (PVA) for chronic hemodialysis (HD) patients. Our objective was to examine the change in markers of HD efficacy after successful establishment of a PVA among children who started HD with a tunneled cuffed catheter (TCC).

Materials And Methods: Retrospective chart reviews were completed on patients from 20 pediatric dialysis centers.

Under-recognition of pediatric hypertension diagnosis: Examination of 1 year of visits to community health centers.

Pediatric hypertension is associated with significant target organ damage in children and cardiovascular morbidity in adulthood. Appropriate diagnosis and management per guideline recommendations are inconsistent. In this study, we determined the proportion of missed diagnosis of hypertension and prehypertension and appropriate follow-up in pediatric patients, stratified by sex, age, race/ethnicity, and weight status.

Pathophysiology and Treatment of Enteric Hyperoxaluria.

Enteric hyperoxaluria is a distinct entity that can occur as a result of a diverse set of gastrointestinal disorders that promote fat malabsorption. This, in turn, leads to excess absorption of dietary oxalate and increased urinary oxalate excretion. Hyperoxaluria increases the risk of kidney stones and, in more severe cases, CKD and even kidney failure.

Optimizing the implementation of a population panel management intervention in safety-net clinics for pediatric hypertension (The OpTIMISe-Pediatric Hypertension Study).

Background: Though clinical practice guidelines are available, the diagnosis of pediatric hypertension (HTN) is often missed. Management may not follow guidelines due to the measurement challenges in children, complexity of interpreting youth blood pressure standards that are dependent on height, age, and sex, familiarity with diagnostic criteria, and variable comfort with management of pediatric HTN among providers. Evidence suggests that wide adoption and adherence to pediatric HTN guidelines would result in lower cardiovascular disease and kidney damage in adulthood.

Evaluation and Medical Management of Patients with Cystine Nephrolithiasis: A Consensus Statement.

Cystinuria is a genetic disorder with both autosomal recessive and incompletely dominant inheritance. The disorder disrupts cystine and other dibasic amino acid transport in proximal tubules of the kidney, resulting in recurrent kidney stone formation. Currently, there are no consensus guidelines on evaluation and management of this disease.

Adult complications of nephropathic cystinosis: a systematic review.

While nephropathic cystinosis is classically thought of as a childhood disease, with improved treatments, patients are more commonly living into adulthood. We performed a systematic review of the literature available on what complications this population faces as it ages. Nearly every organ system is affected in cystinosis, either from the disease itself or from sequelae of kidney transplantation.

Predictors of time to first cannulation for arteriovenous fistula in pediatric hemodialysis patients: Midwest Pediatric Nephrology Consortium study.

Background: Permanent vascular access (PVA) is preferred for long-term hemodialysis. Arteriovenous fistulae (AVF) have the best patency and the lowest complication rates compared to arteriovenous grafts (AVG) and tunneled cuffed catheters (TCC). However, AVF need time to mature.

Oh cystinosin: let me count the ways!

Nephropathic cystinosis is the most common genetic cause of a renal Fanconi syndrome and results from dysfunction of the lysosomal cystine-transporter protein cystinosin. The multiple organ dysfunctions of affected patients were thought to be related to the defective protein, with cystine crystal formation. However, such crystals were not always present when looked for.

Serum albumin and hospitalization among pediatric patients with end-stage renal disease who started dialysis therapy.

Background: Hypoalbuminemia is a strong predictor of hospitalization and mortality among adult dialysis patients. However, data are scant on the association between serum albumin and hospitalization among children new to dialysis.

Methods: In a retrospective cohort study of children 1-17 years old with end-stage renal disease receiving dialysis therapy in a large US dialysis organization 2007-2011, we examined the association of serum albumin with hospitalization frequency and total hospitalization days using a negative binomial regression model.