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syndrome nephrotic

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
Claudio Bazzi, Tomoko Usui, Virginia Rizza, Daniela Casellato, Maurizio Gallieni, Masaomi Nangaku
BACKGROUND: The clinical course of idiopathic membranous nephropathy (IMN) varies from spontaneous remission of nephrotic syndrome (NS) to end-stage renal disease (ESRD). Selecting patients with high risk of progression for immunosuppressive therapy is mandatory. METHODS: 86 IMN subjects were followed for median of 69 months (range 6-253). Receiver operating characteristic curve and Cox proportional hazards model were used to evaluate prognostic factors for progression, defined as ESRD or eGFR reduction ≥50% of baseline...
October 20, 2016: Nephrology
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
Eugen Widmeier, Weizhen Tan, Merlin Airik, Friedhelm Hildebrandt
INTRODUCTION: Steroid-resistant nephrotic syndrome (SRNS) inevitably progresses to end-stage kidney disease, requiring dialysis or transplantation for survival. However, treatment modalities and drug discovery remain limited. Mutations in over 30 genes have been discovered as monogenic causes of SRNS. Most of these genes are predominantly expressed in the glomerular epithelial cell, the podocyte, placing it at the center of the pathogenesis of SRNS. Podocyte migration rate (PMR) represents a relevant intermediate phenotype of disease in monogenic causes of SRNS...
October 19, 2016: American Journal of Physiology. Renal Physiology
X L Sun, F C Zhang, Y Xiao, L Liu, Y Guan
Objective: To study the morphologic changes of immunotactoid glomerulopathy and to investigate the clinical pathological features and differential diagnosis. Methods: Renal biopsy was observed under the light microscope, immunofluorescence and electron microscopy in a case of newly diagnosed immunotactoid glomerulopathy. Results: This patient clinically presented with nephrotic syndrome and hypertension, without family history of renal diseases. Light microscopy showed that diffusely massive and specific protein deposition in the glomerulus in Masson staining...
October 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
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
Toshiyuki Takahashi, Yasuyuki Sato, Takeshi Yamazaki, Asako Hayashi, Takayuki Okamoto
No abstract text is available yet for this article.
October 18, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Toshiyuki Takahashi, Yasuyuki Sato, Takeshi Yamazaki, Asako Hayashi, Takayuki Okamoto
BACKGROUND: Most patients with congenital nephrotic syndrome (CNS) exhibit a failure to thrive. A previous study reported that five of 41 (12 %) infants with CNS had hypertrophic pyloric stenosis (HPS) requiring surgery. The reason for this is undetermined, and there are few reports regarding the relationship between these conditions or their clinical course. CASE DIAGNOSIS/TREATMENT: We present the case of a 4-month-old girl with CNS. She did not show typical manifestations of HPS, but thickened mucosal and submucosal layers and hypertrophy of the pyloric muscle were detected by repeated ultrasound examinations prior to the diagnosis of HPS...
October 18, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Shabnam Bhandari Grover, Nishith Kumar, Hemal Grover, Dinesh Kumar Taneja, Amit Katyan
BACKGROUND: Common etiologies of scrotal swelling in neonates include hydrocoele, inguinal hernia and testicular torsion; less common is epididymo-orchitis. Congenital nephrotic syndrome (CNS), a rare entity, is known to present as progressive renal failure and its leading presentation with scrotal involvement has not been reported. MATERIAL/METHODS: We report a rare case of CNS with primary clinical presentation as scrotal cellulitis and epididymo-orchitis. In this neonate, scrotal and abdominal ultrasound examination was performed and the laboratory data were obtained...
2016: Polish Journal of Radiology
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
Pankaj Beniwal, Lalit Pursnani, Sanjeev Sharma, R K Garsa, Mohit Mathur, Prasad Dharmendra, Vinay Malhotra, Dhanajai Agarwal
Studies published from centers across India have reported different and contradicting patterns of glomerular disease. In this retrospective study, we report our experience from a Tertiary Care Center in Northwest India. A total of 702 renal biopsies performed between 2008 and 2013 were reviewed of which 80 were excluded from the study because of having insufficient records or if the biopsies were taken from an allograft. The study included 411 males (66.1 %) and 211 females (33.9%) with an age range of 12-70 years (mean 30...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
Imen Gorsane, I Helal, I Yacoub, F Ben Hamida, E Abderrahim, T Ben Abdallah
Focal and segmental glomerulosclerosis (FSGS) is a heterogeneous entity. Previous few studies have evaluated the efficacy of calcineurin inhibitors in primary FSGS and have suggested positive benefit. In this single-center, retrospective study (1975-2014), we report our experience in Tunisian adults with primary FSGS treated with cyclosporine A (CsA). It includes patients histologically proven FSGS and managed in the Charles Nicolle Hospital at Tunis, Tunisia. The dose of CsA was adjusted to maintain a whole blood trough level of 80-150 ng/mL...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
Rutger J Maas, Jeroen K Deegens, Bart Smeets, Marcus J Moeller, Jack F Wetzels
Minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) are the key histological findings in patients with idiopathic nephrotic syndrome (INS). Although MCD and idiopathic FSGS are often considered to represent separate entities based on differences in their presenting characteristics, histology and outcomes, little evidence exists for this separation. We propose that MCD and idiopathic FSGS are different manifestations of the same progressive disease. The gradual development of FSGS in patients with non-remitting or relapsing INS has been well documented...
October 17, 2016: Nature Reviews. Nephrology
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
Mercedes Acevedo Ribó, Francisco Javier Ahijado Hormigos, Francisco Díaz, Marta Romero Molina, Maria Angeles Fernandez Rojo, Maria Antonia Garcia Rubiales, Eugenio García Diaz
This case report describes a patient with a previous history of autoimmune pancreatitis secondary to IgG4-related disease, who developed an overt nephrotic syndrome due to membranous nephropathy, surprisingly idiopathic. In all the previously described cases with both concurrent diseases, membranous nephropathy was considered to be secondary to the IgG4-related disease based on the absence of anti-PLA2R1 autoantibodies, and nephrotic syndrome usually remitted after treatment with steroids alone. However, in our patient positivity of serum anti-PLA2R1 autoantibodies together with a normal serum IgG4 level, and the absence of the other most commonly associated diseases were compatible with an idiopathic membranous nephropathy...
October 14, 2016: Clinical Nephrology
Anna Kelly Krislane de Vasconcelos Pedrosa, Luiz Fernando Oliveira Torres, Ana Corina Brainer Amorim da Silva, Adrianna Barros Leal Dantas, Káthia Liliane da Cunha Ribeiro Zuntini, Lia Cordeiro Bastos Aguiar
Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case...
July 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
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
Yuka Sugawara, Kenjiro Honda, Daisuke Katagiri, Motonobu Nakamura, Takahisa Kawakami, Ryo Nasu, Akimasa Hayashi, Yukako Shintani, Akihiro Tojo, Eisei Noiri, Mineo Kurokawa, Masashi Fukayama, Masaomi Nangaku
The development of nephrotic syndrome (NS) after umbilical cord transplantation (UBT) has been reported in only four cases to date. We herein report the case of a 50-year-old woman who developed NS 94 days after UBT. She fell into oliguria and required dialysis. A kidney biopsy revealed focal and segmental glomerulosclerosis. Although glucocorticoid monotherapy did not improve her condition, the addition of low-density lipoprotein (LDL) apheresis resulted in remission of NS, a drastic improvement in her renal function, and withdrawal from dialysis...
2016: Internal Medicine
Supamit Ukarapong, Gary Berkovitz, Kenneth McElreavey, Anu Bashamboo, Yong Bao
Mutation of the Wilms tumor suppressor gene (WT1) has been recognized as one of the etiologies of steroid-resistant nephrotic syndrome (SRNS). The mutation is also responsible for gonadal dysgenesis in 46,XY individuals. Early recognition of the presence of Y chromosome is of particular importance because of the high risk of gonadal tumor. We present here three cases of steroid-resistant nephrotic syndrome with WT1 mutation and 46,XY karyotype. Patient 1 and 2 have intron splice site (IVS9+5G > A) mutation...
October 10, 2016: Clinical Nephrology
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