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Nephrotic Syndrome in children

Brendan D Crawford, Christopher E Gillies, Catherine C Robertson, Matthias Kretzler, Edgar Otto, Virginia Vega-Wagner, Matthew G Sampson
BACKGROUND: More than 30 genes can harbor rare exonic variants sufficient to cause nephrotic syndrome (NS), and the number of genes implicated in monogenic NS continues to grow. However, outside the first year of life, the majority of affected patients, particularly in ancestrally mixed populations, do not have a known monogenic form of NS. Even in those children classified with a monogenic form of NS, there is phenotypic heterogeneity. Thus, we have only discovered a fraction of the heritability of NS-the underlying genetic factors contributing to phenotypic variation...
October 20, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Tuula Hölttä, Marjolein Bonthuis, Karlijn J Van Stralen, Anna Bjerre, Rezan Topaloglu, Fatih Ozaltin, Christer Holmberg, Jerome Harambat, Kitty J Jager, Franz Schaefer, Jaap W Groothoff
BACKGROUND: Congenital nephrotic syndrome (CNS) of the Finnish type, NPHS1, is the most severe form of CNS. Outcomes of renal replacement therapy (RRT) in NPHS1 patients in Europe were analysed using data from the ESPN/ERA-EDTA Registry. As NPHS1 is most prevalent in Finland and the therapeutic approach differs from that in many other countries, we compared outcomes in Finnish and other European patients. METHODS: NPHS1 mutations were confirmed in 170 children with CNS who initiated RRT (dialysis or renal transplantation) between 1991 and 2012...
October 20, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Abdulmoein E Al-Agha, Abrar M Alnawab, Tala M Hejazi
To determine the various etiologies of primary and secondary hyperlipidemia among children visiting the pediatric endocrine clinic. Methods: This is a retrospective, cross-sectional, cohort study conducted at King Abdulaziz University Hospital (KAUH), Jeddah, Kingdom of Saudi Arabia from January 2010 to 2015 that included 253 children aged from birth to 12 years old. Data were obtained by reviewing medical reports of patients who presented with hyperlipidemia to the clinic, and their laboratory investigation results using KAUH electronic "Phoenix" system...
November 2016: Saudi Medical Journal
Agnieszka Antonowicz, Piotr Skrzypczyk, Beata Kępa, Małgorzata Pańczyk-Tomaszewska
: Toxocariasis is a common zoonosis caused by infection with Toxocara canis or cati larvae. Ocular toxocariasis is one of the forms of infestation found in 1/1,000 - 1/10,000 children. Children with idiopathic nephrotic syndrome (INS) are at high risk of infections, also parasitic infestations, which can, in turn, cause relapses of the disease. A CASE REPORT: We present a case of a 6-year-old boy with steroiddependent nephrotic syndrome. The disease started at age of 2, the boy had 9 relapses of INS, and was treated with oral prednisone, levamisole, and cyclophosphamide...
October 19, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Md Habibur Rahman, Md Abdul Qader, Syed Saimul Haque, Md Abdullah Al Mamun, Golam Muin Uddin
Posterior reversible encephalopathy syndrome (PRES) is a rare clinical and radiological phenomenon is encountered in children compared to adults. In our center, a 5-yearold boy with steroid-dependent nephrotic syndrome (SDNS) presented with headache and blurring of vision during relapse after a long course of immunosuppressive therapy. Evaluation by computed tomography scan of the brain showed that the child had hypodense areas throughout the occipital region of the brain. All signs of PRES, except papilledema, resolved after seven days of supportive treatment evidenced by subsequent radiological evaluation...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
Yong Hee Lee, Yu Bin Kim, Ja Wook Koo, Ju-Young Chung
PURPOSE: To investigate the epidemiology, clinical manifestations, investigations and management, and prognosis of patients with Henoch-Schonlein purpura (HSP). METHODS: We performed a retrospective review of 212 HSP patients under the age of 18 years who were admitted to Inje University Sanggye Paik Hospital between 2004 and 2015. RESULTS: The mean age of the HSP patients was 6.93 years, and the ratio of boys to girls was 1.23:1. HSP occurred most frequently in the winter (33...
September 2016: Pediatric Gastroenterology, Hepatology & Nutrition
Elisabeth M Hodson, Sophia C Wong, Narelle S Willis, Jonathan C Craig
BACKGROUND: The majority of children who present with their first episode of nephrotic syndrome achieve remission with corticosteroid therapy. Children who fail to respond may be treated with immunosuppressive agents including calcineurin inhibitors (cyclosporin or tacrolimus) and with non-immunosuppressive agents such as angiotensin-converting enzyme inhibitors (ACEi). Optimal combinations of these agents with the least toxicity remain to be determined. This is an update of a review first published in 2004 and updated in 2006 and 2010...
October 11, 2016: Cochrane Database of Systematic Reviews
Manal A Safan, Nesreen G Elhelbawy, Dina A Midan, Heba F Khader
BACKGROUND: The most common cause of nephrotic syndrome (NS) is idiopathic nephrotic syndrome (INS), also called nephrosis. Although most patients respond to steroid therapy, there is unequal response to treatment suggesting the involvement of genetic factors. The current study was conducted to evaluate the influence of two single nucleotide polymorphisms (SNPs) in ABCB1 (C3435T and C1236T) on the steroid treatment response in INS children. MATERIALS AND METHODS: Genotyping of ABCB1 C3435T and C1236T polymorphisms by real time PCR were conducted on 120 INS children, 80 steroid sensitive (SS) and 40 steroid resistant (SR)...
October 8, 2016: British Journal of Biomedical Science
Yuko Shima, Koichi Nakanishi, Masashi Sato, Taketsugu Hama, Hironobu Mukaiyama, Hiroko Togawa, Ryojiro Tanaka, Kandai Nozu, Mayumi Sako, Kazumoto Iijima, Hiroyuki Suzuki, Norishige Yoshikawa
BACKGROUND: Despite a low incidence, nephrotic syndrome (NS) can present with IgA nephropathy (IgAN). The clinical characteristics and long-term outcomes of pediatric patients with IgAN presenting with NS (NS-IgAN) at onset have not been fully elucidated. METHODS: We retrospectively analyzed 426 patients, and compared clinical and pathological (Oxford) findings between those with NS-IgAN and those with non-NS-IgAN. RESULTS: Among 426 patients, 30 (7...
October 6, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
S Ai, Y Y Lin, J Zheng, C X Qiu, Y J Liu, X Lin
Shenkangling plays a role of Yishenhuoxue effect for the treatment of children with nephrotic syndrome. The aim of this study was to investigate the effects of Shenkangling intervention on the mitogen-activated protein kinase (MAPK) pathway in rats with Adriamycin-induced nephropathy (AN) and its underlying mechanism of action. Nephrosis was induced in healthy Sprague-Dawley rats by doxorubicin and the rats were untreated or treated with prednisone, simvastatin, Shenkangling, or a combination thereof. Using real-time PCR, the mRNA expression levels of Chemokine (C-X-C motif) ligand 16 (CXCL16), A Disintegrin and metalloproteinase domain-containing protein 10 (ADAM10), and ADAM17 in the renal tissues of these rats were found to be decreased by the various treatments compared to those in the untreated doxorubicin-induced nephrosis rats...
August 19, 2016: Genetics and Molecular Research: GMR
Julia Hoefele, Markus J Kemper, Ulf Schoenermarck, Susanna Mueller, Hanns-Georg Klein, Anja Lemke
About 30% of children with nephrotic syndrome (NS) have inherited forms. Among them, mutations in Wilms tumor suppressor gene 1 (WT1) are a well characterized cause associated with steroid-resistant NS, Wilms tumor, and urogenital malformation in males. However, the role of WT1 mutations in adult-onset focal segmental glomerulosclerosis (FSGS) is unclear. We report the case of a 38-year-old female with FSGS. She had been diagnosed with streak ovaries during diagnostic workup for infertility. Mutational analysis identified the heterozygous mutation c...
October 5, 2016: Nephron
Yasser Gamal, Ahlam Badawy, Salwa Swelam, Mostafa S K Tawfeek, Eman Fathalla Gad
Glucocorticoids are primary therapy of idiopathic nephrotic syndrome (INS). However, not all children respond to steroid therapy. We assessed glomerular glucocorticoid receptor expression in fifty-one children with INS and its relation to response to steroid therapy and to histopathological type. Clinical, laboratory and glomerular expression of glucocorticoid receptors were compared between groups with different steroid response. Glomerular glucocorticoid expression was slightly higher in controls than in minimal change early responders, which in turn was significantly higher than in minimal change late responders...
October 3, 2016: Fetal and Pediatric Pathology
Claire Dossier, Agnès Jamin, Georges Deschênes
Steroid sensitive nephrotic syndrome is marked by a massive proteinuria and loss of podocytes foot processes. The mechanism of the disease remains debated but recent publications suggest a primary role of EBV. EBV replication in the peripheral blood is found in 50% of patients during the first flare of the disease. The genetic locus of steroid sensitive nephrotic syndrome was also identified as influencing antibodies directed against EBNA1. EBV is able to establish, latent benign infection in memory B cells that display phenotypes similar to antigen-selected memory B cells...
September 28, 2016: Pediatric Research
Karnika Raja, Ami Parikh, Hazel Webb, Daljit Hothi
BACKGROUND: Relapses of nephrotic syndrome are common and are treated with a course of prednisolone (2 mg/kg/day or 60 mg/m(2)/day). This is associated with major adverse effects including diabetes, weight gain, hypertension and behavioural problems. This study is a retrospective review examining the success of treating relapses in steroid-sensitive nephrotic syndrome (SSNS) with low-dose prednisolone and the consequences on subsequent relapse rates. Furthermore, a follow-up study looked at the side-effect profile during treatment with high- versus low-dose prednisolone...
September 27, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
María Luisa Ceballos Osorio, Francisco Cano Schuffeneger
: Growth failure is one of the most relevant complications in children with chronic kidney disease (CKD). Among others, growth hormone (GH) resistance and bone mineral disorders have been identified as the most important causes of growth retardation. OBJECTIVES: 1. To characterize bone mineral metabolism and growth hormone bio-markers in CKD children treated with chronic peritoneal dialysis (PD). 2. To evaluate height change with rhGH treatment. PATIENTS AND METHOD: A longitudinal 12-month follow-up in prepuberal PD children...
September 19, 2016: Revista Chilena de Pediatría
Chen Xiaohong, X U Yiping, L U Meiping
OBJECTIVE: To analyze the clinical characteristics and etiology of hypereosinophilia in children. METHODS: Clinical data of 88 children with hypereosinophilia admitted in Children's Hospital of Zhejiang University School of Medicine during April 2009 and May 2015 were retrospectively reviewed. The clinical manifestations, etiologies, and the correlation of disease severity with different etiologies were analyzed. RESULTS: The main clinical manifestations were fever, abdominal pain, cough and/or tachypnea, skin rash, hemafecia and diarrhea, which were observed in 19 (21...
May 25, 2016: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
Catherine C Robertson, Christopher E Gillies, Rosemary K B Putler, Derek Ng, Kimberly J Reidy, Brendan Crawford, Matthew G Sampson
BACKGROUND: Two genetic variants in apolipoprotein L1 (APOL1) are associated with increased risk of focal segmental glomerulosclerosis as well as other glomerular phenotypes. These risk variants are common in individuals of African ancestry but absent in other racial groups. Yet, the majority of individuals with two APOL1 risk alleles [high-risk (HR) genotype] do not have renal disease. It is critical to identify environmental and secondary genetic influences that, when combined with these alleles, lead to kidney disease...
September 16, 2016: Nephrology, Dialysis, Transplantation
Paloma Menéndez Valladares, Teresa Arrobas Velilla, José Antonio Bermúdez de la Vega, María Del Mar Romero Pérez, Fernando Fabiani Romero, Concepción González Rodríguez
A common complication in paediatric patients with nephrotic syndrome (NS) is hyperlipidaemia. About 20% of children do not respond to treatment with corticosteroids, presenting with a cortico-resistant NS (CRNS), which can progress to kidney failure. It has been observed that paediatric patients with CRNS have an elevated low density lipoprotein cholesterol (LDL-c), very low density lipoprotein cholesterol (VLDL-c), and triglycerides levels, as well as elevated Lipoprotein-a [Lp (a)] levels. The case is presented of a 5 year old boy, diagnosed with CRNS, presenting with dyslipidaemia with increased LDL-c, Apo-B100, and Lp(a) levels...
September 2016: Clínica e Investigación en Arteriosclerosis
Michelle N Rheault, Rasheed A Gbadegesin
Nephrotic syndrome (NS) is a common pediatric kidney disease and is defined as massive proteinuria, hypoalbuminemia, and edema. Dysfunction of the glomerular filtration barrier, which is made up of endothelial cells, glomerular basement membrane, and visceral epithelial cells known as podocytes, is evident in children with NS. While most children have steroid-responsive nephrotic syndrome (SSNS), approximately 20% have steroid-resistant nephrotic syndrome (SRNS) and are at risk for progressive kidney dysfunction...
March 2016: Journal of Pediatric Genetics
Lidvana Spahiu, Besart Merovci, Haki Jashari, Arbnore Batalli Këpuska, Blerta Elezi Rugova
INTRODUCTION: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. CASE REPORT: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive...
June 2016: Medical Archives
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