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Washington, DC, United States

Cramer M.T.,University of Alabama at Birmingham | Charlton J.R.,University of Virginia | Fogo A.B.,Vanderbilt University | Fathallah-Shaykh S.A.,University of Alabama at Birmingham | And 2 more authors.
Pediatric Nephrology | Year: 2014

Background: Dent disease is an X-linked recessive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure (MIM 300009). A recent case series identified four patients with CLCN5 mutations who presented with nephrotic-range proteinuria, histologic evidence of focal segmental and/or global sclerosis, and low molecular weight proteinuria.Case-Diagnosis/Treatment: We characterize the clinical, genetic, and histopathological features of seven unrelated adolescent males with nephrotic-range proteinuria and CLCN5 mutations. Six patients underwent renal biopsy prior to assessing tubular proteinuria. All biopsied patients had either segmental sclerosis (3/6) or segmental increase in mesangial matrix (3/6). Five patients revealed some degree of foot process effacement, but only one patient biopsy revealed >50 % foot process effacement. The attenuated foot process effacement suggests the glomerulosclerosis is not due to a primary podocytopathy.Conclusions: These data suggest that clinicians should consider a diagnostic evaluation for Dent disease in young males presenting with high-grade proteinuria. © 2014, IPNA.

Herbert L.,Center for Translational Science | Shemesh E.,Mount Sinai School of Medicine | Bender B.,Center for Health Promotion
Journal of Allergy and Clinical Immunology: In Practice | Year: 2016

Current estimates indicate that 4% to 8% of children in the United States are diagnosed with food allergy, and more than 40% of US children with food allergy experience severe allergic reactions. Families trying to avoid foods that may trigger an allergic reaction and ensure adequate treatment of allergic reactions that do occur face numerous challenges. The rise in the number of children diagnosed with food allergies underscores the importance of food allergy-related interventions to address elevated psychosocial concerns, such as parenting stress, anxiety, and worries about bullying. This review provides an overview of common psychosocial concerns among children with food allergy and their families across the developmental spectrum, and offers guidance to medical providers regarding the identification and treatment of food allergy-related psychosocial challenges. © 2016 American Academy of Allergy, Asthma & Immunology.

Hartung E.A.,Childrens Hospital of Philadelphia | Guay-Woodford L.M.,Center for Translational Science
Pediatrics | Year: 2014

Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of chronic kidney disease in children. The care of ARPKD patients has traditionally been the realm of pediatric nephrologists; however, the disease has multisystem effects, and a comprehensive care strategy often requires a multidisciplinary team. Most notably, ARPKD patients have congenital hepatic fibrosis, which can lead to portal hypertension, requiring close follow-up by pediatric gastroenterologists. In severely affected infants, the diagnosis is often first suspected by obstetricians detecting enlarged, echogenic kidneys and oligohydramnios on prenatal ultrasounds. Neonatologists are central to the care of these infants, who may have respiratory compromise due to pulmonary hypoplasia and massively enlarged kidneys. Surgical considerations can include the possibility of nephrectomy to relieve mass effect, placement of dialysis access, and kidney and/or liver transplantation. Families of patients with ARPKD also face decisions regarding genetic testing of affected children, testing of asymptomatic siblings, or consideration of preimplantation genetic diagnosis for future pregnancies. They may therefore interface with genetic counselors, geneticists, and reproductive endocrinologists. Children with ARPKD may also be at risk for neurocognitive dysfunction and may require neuropsychological referral. The care of patients and families affected by ARPKD is therefore a multidisciplinary effort, and the general pediatrician can play a central role in this complex web of care. In this review, we outline the spectrum of clinical manifestations of ARPKD and review genetics of the disease, clinical and genetic diagnosis, perinatal management, management of organ-specific complications, and future directions for disease monitoring and potential therapies.

Kopp J.B.,U.S. National Institute of Diabetes and Digestive and Kidney Diseases | Winkler C.A.,Frederick National Laboratory for Cancer Research | Zhao X.,U.S. National Institute of Diabetes and Digestive and Kidney Diseases | Radeva M.K.,Cleveland Clinic | And 13 more authors.
Journal of the American Society of Nephrology | Year: 2015

Genetic variants in apolipoprotein L1 (APOL1) confer risk for kidney disease. We sought to better define the phenotype of APOL1-associated nephropathy. The FSGS Clinical Trial involved 138 children and young adults who were randomized to cyclosporin or mycophenolate mofetil plus pulse oral dexamethasone with a primary outcome of proteinuria remission. DNA was available from 94 subjects who were genotyped for APOL1 renal risk variants, with two risk alleles comprising the risk genotype. Two APOL1 risk alleles were present in 27 subjects, of whom four subjects did not self-identify as African American, and 23 of 32 (72%) self-identified African Americans. Individuals with the APOL1 risk genotype tended to present at an older age and had significantly lower baseline eGFR, more segmental glomerulosclerosis and total glomerulosclerosis, and more tubular atrophy/interstitial fibrosis. There were differences in renal histology, particularly more collapsing variants in those with the risk genotype (P=0.02), although this association was confounded by age. APOL1 risk genotype did not affect response to either treatment regimen. Individuals with the risk genotype were more likely to progress to ESRD (P<0.01). In conclusion, APOL1 risk genotypes are common in African-American subjects with primary FSGS and may also be present in individuals who do not self-identify as African American. APOL1 risk status is associated with lower kidney function, more glomerulosclerosis and interstitial fibrosis, and greater propensity to progress to ESRD. The APOL1 risk genotype did not influence proteinuria responses to cyclosporin or mycophenolate mofetil/dexamethasone. Copyright © 2015 by the American Society of Nephrology.

Hinds P.S.,Center for Translational Science | Menard J.C.,Childrens National Medical Center | Jacobs S.S.,Childrens National Medical Center
Progress in Palliative Care | Year: 2012

Introduction: Although much is asked clinically and emotionally of children and adolescents who are receiving treatment for a life-threatening illness, they are not routinely asked how they experience the treatment that is intended to save or prolong their lives. Without their subjective reports (the 'child's voice'), the treatment risk/benefit ratio cannot be fully known. Our purpose is to offer a description of the term 'child's voice' and to describe methods used to solicit and validate the ill child's reports of treatmentrelated symptoms and quality of life during palliative or end-of-life care. Methods: Study methods included a targeted literature review from three literature databases to develop the description of the 'child's voice' and to provide evidence regarding the ability of children with cancer to give voice to their treatment experience. Results: Many children ages 5-7 years and most children 8 years of age and older in treatment for cancer or receiving end-of-life care were able to validly report their symptoms, treatment experiences, and quality of life through qualitative and quantitative measures. Discussion: Although relevant literature is limited, research findings indicate that a majority of ill children and adolescents are able to report on their treatment-related symptoms and quality of life. The absence of the child's voice in palliative and end-of-life care jeopardizes best care efforts. We believe that seeking the ill child's voice in palliative and end-of-life care should now be standard of care. © W.S. Maney & Son Ltd 2012.

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