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Nephrotic Syndrome In Child

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https://www.readbyqxmd.com/read/30450471/parental-whole-exome-sequencing-enables-sialidosis-type-ii-diagnosis-due-to-an-neu1-missense-mutation-as-an-underlying-cause-of-nephrotic-syndrome-in-the-child
#1
Reza Maroofian, Isabel Schuele, Maryam Najafi, Zeineb Bakey, Abolfazl Rad, Dinu Antony, Haleh Habibi, Miriam Schmidts
Introduction: Monogenetic renal diseases, including recessively inherited nephrotic syndromes, represent a significant health burden despite being rare conditions. Precise diagnosis, including identification of the underlying molecular cause, is especially difficult in low-income countries and/or if affected individuals are unavailable for biochemical testing. Whole-exome sequencing (WES) has opened up novel diagnostic perspectives for these settings. However, sometimes the DNA of affected individuals is not suitable for WES due to low amounts or degradation...
November 2018: KI Reports
https://www.readbyqxmd.com/read/30431487/nephrotic-syndrome-as-a-presenting-feature-in-a-child-with-nlrp3-mutation
#2
Vignesh Pandiarajan, Anju Gupta, Dorota Rowczenio, Philip Hawkins, Chandrasekaran Muralidaran, Karalanglin Tiewsoh, Ritambhra Nada
No abstract text is available yet for this article.
November 14, 2018: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/30313030/chronic-thromboembolic-pulmonary-hypertension-as-the-first-manifestation-of-nephrotic-syndrome-in-a-12-year-old-child
#3
Fan Ma, Kaiyu Zhou, Yimin Hua, Xiaoliang Liu, Hongyu Duan, Yifei Li, Chuan Wang
RATIONALE: Chronic thromboembolic pulmonary hypertension (CTEPH) is rare in children and determining the underlying etiologies is essential for treatment. Venous thromboembolism, a well-known complication in nephrotic syndrome (NS), always occurrs during the treatment in course of the disease. However, CTEPH as the first manifestation of NS has not been reported till now. PATIENT CONCERNS: A 12-year-old boy initially complained of hemoptysis, cough and shortness of breath with exertion, any symptoms regarding NS such as edema were not presented...
October 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/30291279/ccdc114-is-mutated-in-patient-with-a-complex-phenotype-combining-primary-ciliary-dyskinesia-sensorineural-deafness-and-renal-disease
#4
Ping Li, Yani He, Guangyan Cai, Fei Xiao, Jie Yang, Qinggang Li, Xiangmei Chen
Ciliopathies-are widely recognized and associated with a wide variety of developmental and degenerative disorders. Most cilia-related diseases have renal manifestation, and there is a cross- overlapping relationship between gene mutations and cilia disease. Here, we investigated the clinical and pathological manifestation of a rare disease patient. We present the case of a 15-year-old child with dysplasia and multiple-organ damage who was initially diagnosed with nephrotic syndrome. The patient's kidney disease progressed to renal failure and received hemodialysis 10 months after renal biopsy...
October 5, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/30281063/reversible-posterior-encephalopathy-syndrome-in-a-10-year-old-child
#5
Eve Grillo Carvalho, Henrique Guarino Colli Peluso, Lorena Luana Batista, Cissa Santos Moreira, Juliana Suzano Moraes Protti, Maria Cristina Bento Soares, Aline de Freitas Suassuna Autran, Amanda Rocha Soares Almeida, Denise Cristina Rodrigues, Lívia Verônica Grillo Romano Bernardes, Luciana Pimenta de Paula
INTRODUCTION: The posterior reversible encephalopathy (PRES) syndrome encompasses a set of clinical-radiological findings associated with severe systemic arterial hypertension. This case report proposes to discuss the identification, diagnosis, and management of PRES in the pediatric population. CASE PRESENTATION: Female patient, 10 years old, admitted to the emergency room with complaint of oliguria and generalized edema. At the initial physical exam, the only alteration present was anasarca...
September 21, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/30249853/bilateral-combined-central-retinal-artery-and-vein-occlusion-in-a-3-year-old-child-with-nephrotic-syndrome
#6
Shivani Sinha, Adoor T K Rau, Rachna V Kumar, Chaitra Jayadev, Anand Vinekar
Nephrotic syndrome (NS) is a common disease of childhood but ophthalmic manifestations are seldom reported. We report a rare occurrence of bilateral combined central retinal artery and vein occlusion in a 3-year-old with NS. The child presented with bilateral painless loss of vision, central pallid retinae with cherry red spots, vascular tortuosity, and retinal hemorrhages. There was delayed filling of the arteriolar circulation and a delay in arteriovenous transit time on angiography and increased central retinal thickening on optical coherence tomography...
October 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/30234547/delayed-death-due-to-saddle-pulmonary-thromboembolus-in-child-with-nephrotic-syndrome-induced-by-focal-segmental-glomerulosclerosis
#7
Rory A Guenther, Walter L Kemp
While the characteristic features of nephrotic syndrome (ie, proteinuria, hypoalbuminemia, peripheral edema, and hyperlipidemia) are well known, the association of nephrotic syndrome and the risk of thromboembolic events is not as often appreciated and may be overlooked. This report describes a 10-year-old boy with focal segmental glomerulosclerosis who died following a saddle pulmonary thromboembolus, with near-complete occlusion of the left and right pulmonary arteries. The gross appearance of the thrombus suggested organization and histologic changes within the wall of the pulmonary artery indicated a period of at least 3 or more hours to a few days since the event occurred...
December 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/30232548/coq10-related-sustained-remission-of-proteinuria-in-a-child-with-coq6-glomerulopathy-a-case-report
#8
Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Beata Lipska-Ziętkiewicz, Marcin Tkaczyk
BACKGROUND: Treatment of steroid resistant nephrotic syndrome is still a challenge for physicians. There are a growing number of studies exploring genetic background of steroid-resistant glomerulopathies. CASE DIAGNOSIS/TREATMENT: We present the case of a 4-year-old girl with steroid-resistant glomerulopathy due to a COQ6 defect with no additional systemic symptoms. The disease did not respond for second-line therapy with calcineurin inhibitor, but it remitted completely after oral treatment with 30 mg/kg/d of coenzyme Q10 (CoQ10)...
December 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/30128632/auto-immune-thyroiditis-in-an-infant-masquerading-as-congenital-nephrotic-syndrome
#9
Sunil N Jondhale, Sushma U Save, Rahul G Koppikar, Sandeep B Bavdekar
A seven-months-old girl under treatment for pneumonia presented with generalized edema, decreased urinary output and was found to have hypertension, muco-cutaneous fungal infection and pulmonary hypertension. Investigations revealed that she had heavy proteinuria, hypertriglyceridemia, hypoalbuminemia and elevated levels of free T3 and T4 with suppression of TSH levels in the serum. A diagnosis of autoimmune thyroiditis (AT) in thyrotoxic phase was made on the basis of clinical presentation and presence of anti-TPO antibodies and reduced uptake in thyroid (technetium) scintigraphy...
August 20, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/30099945/frequent-relapses-in-a-child-with-nephrotic-syndrome-due-to-pleva
#10
Bobbity Deepthi, Samridhi Goyal, Rachita Singh Dhull, Preeti Rai, Abhijeet Saha
A seven-year-old boy with nephrotic syndrome presented with a frequent rash along with relapse of nephrotic syndrome. Clinical and histological features were suggestive of pityriasis lichenoides et varioliformis acuta (PLEVA). Treatment of the condition with doxycycline led to the cure of the lesions as well as the relapses.
August 12, 2018: Tropical Doctor
https://www.readbyqxmd.com/read/30096909/iga-deficiency-and-nephrotic-syndrome-in-children
#11
Lorenza Di Genova, Stefania Ceppi, Maurizio Stefanelli, Susanna Esposito
Background : Imunoglobulin A (IgA) deficiency (IgAD) is the most common form of primary immunodeficiency in Western countries. There have been several reports on IgAD complicated by glomerulonephritis in adults, but only very few cases of IgAD with nephropathy have been reported in children. We present two cases of IgAD with relapsing nephrotic syndrome in pediatric age. Case presentation : A 4-year-old boy and a 2-year-old boy presented with bilateral periorbital oedema and weight gain. The results of laboratory tests revealed IgAD (IgA < 7 mg/dL), normal creatinine, hypoprotidaemia, hypoalbuminaemia, and nephrotic proteinuria...
August 9, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/30080915/cerebral-venous-sinus-thrombosis-in-a-child-with-idiopathic-nephrotic-syndrome-a-case-report
#12
Ana Isabel Rodrigues Silva, João Tavares, Ana Sofia Vaz, Nádia Brito, Mónica Vasconcelos, Teresa Sevivas, Lurdes Moura, Carolina Cordinhã
Complications are rare in pediatric cases of idiopathic nephrotic syndrome (NS). Thromboembolism ranks among the most uncommon and difficult complications to diagnose, particularly in the first episode of NS, since clinical signs might be unspecific. This report describes the case of a 5-year-old girl with NS for the first time presenting with severe hypoalbuminemia (< 2g/dL). The patient responded poorly to therapy with corticosteroids. On day 8 of hospitalization she started having headaches and vomiting; she did not present hemodynamic alterations, fever or exanthems, and her neurological parameters were normal...
August 2, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/30041877/mercury-intoxication-as-a-rare-cause-of-membranous-nephropathy-in-a-child
#13
Oluwadamilola Onwuzuligbo, Allen R Hendricks, Jared Hassler, Kristina Domanski, Collin Goto, Matthias T F Wolf
In adults, membranous nephropathy is the second most common cause of nephrotic syndrome. In contrast, minimal change disease and focal segmental glomerulosclerosis constitute the most common forms of nephrotic syndrome in children, while membranous nephropathy accounts for <5% of cases. In adults, causes of membranous nephropathy include autoantibodies directed against phospholipase A2 receptor and thrombospondin type 1 containing 7A, various infections, environmental toxicities, autoimmune disorders, malignancies, and other secondary forms...
July 21, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29984731/cerebral-arterial-thrombosis-in-a-child-with-nephrotic-syndrome
#14
A Kara, M K Gurgoze, H M Serin, M Aydin
Nephrotic syndrome (NS) in childhood may be associated with thromboembolic complications, mainly in venous origin. However, arterial thrombosis may also be seen as a very rare and life-threatening complication. Herein, we described a case of steroid-resistant NS who did not respond to full-dose steroid treatment for 8 weeks and was complicated by neurological findings. The renal biopsy was consistent with focal segmental glomerulosclerosis. His cerebral magnetic resonance angiography showed the sudden termination of M3 branch of the left middle cerebral artery which corresponded with subacute infarction in the left frontoparietotemporal area...
July 2018: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29885650/mother-s-obesity-and-high-child-s-waist-circumference-are-predictive-factors-of-severe-child-s-obesity-an-observational-study-in-french-guiana
#15
Falucar Njuieyon, Emma Cuadro-Alvarez, Elise Martin, Noémie Lachaume, Yajaira Mrsic, Fanny Henaff, Chimène Maniassom, Antoine Defo, Narcisse Elenga
BACKGROUND: This study aims to describe the predictive factors of severe obesity in children followed in French Guiana. METHODS: In this observational study, the patients from the French Guianese Childhood Obesity Group database were prospectively included, after giving a statement of patient's non opposition. RESULTS: Our group classifications revealed that 36 of 150 (24%) participants were classified as being metabolically abnormal obesity" (MAO), while 114 of 150 (76%) were categorized as metabolically normal obesity" (MNO)...
June 9, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29568987/furosemide-induced-tubular-dysfunction-responding-to-prostaglandin-synthesis-inhibitor-therapy-in-a-child-with-nephrotic-syndrome
#16
T Harish Varma, Ashish Sharma, S Santhiya, Lesa Dawman, Karalanglin Tiewsoh
Furosemide is one of the most common drug used to treat anasarca in childhood nephrotic syndrome. It has minimal side effects on short-term usage, but prolonged use can result in polyuria, hypokalemia and metabolic alkalosis. This pseudo-bartter complication can be treated by discontinuation of the drug with adequate potassium replacement. We report a child who was given furosemide for 20 days elsewhere to treat the edema due to nephrotic syndrome and then presented to us with bartter-like syndrome. Furosemide was discontinued and potassium replacement was initiated...
November 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29563694/purtscher-like-retinopathy-a-rare-ocular-finding-in-nephrotic-syndrome
#17
Anamika Dwivedi, Deepak Dwivedi, Charudutt Chalisgaonkar, Sujata Lakhtakia
In this report, we present a case of Purtscher-like retinopathy in a 12-year-old male child with nephrotic syndrome. He was a known case of steroid-dependent nephrotic syndrome, frequent relapser with spontaneous bacterial peritonitis, who presented with complaints of difficulty in vision in both eyes. The fundus examination showed multiple cotton-wool spots and Purtscher fleckens centered around the optic nerve head with superficial retinal hemorrhages in both eyes. Fluorescein angiography confirmed the diagnosis of Purtscher-like retinopathy...
January 2018: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/29549133/chyluria-in-young-child-a-rare-presentation
#18
Gaurav Garg, Apul Goel, Sunny Goel, Manmeet Singh
Chyluria, a chronic manifestation of lymphatic filariasis, is rare in children. Clinicians must have a high index of suspicion to diagnose this condition in children as it mimics nephrotic syndrome. We present an unusual case in which a 7-year-old boy hailing from a filarial endemic region presented with a passage of milky urine, which on evaluation was diagnosed as parasitic chyluria. The child showed remission after medical management that persisted until 1 year of follow-up.
March 16, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29426974/infusion-reactions-associated-with-rituximab-treatment-for-childhood-onset-complicated-nephrotic-syndrome
#19
Koichi Kamei, Masao Ogura, Mai Sato, Shuichi Ito, Kenji Ishikura
BACKGROUND: Infusion reaction (IR) is defined as an adverse event within 24 h after monoclonal antibody infusion. In non-Hodgkin lymphoma, IR incidence following rituximab treatment is high (77-80%), but there are no data in complicated nephrotic syndrome. METHODS: Records of rituximab infusions in patients with complicated nephrotic syndrome between February 2006 and December 2014 at the National Center for Child Health and Development were reviewed. Rituximab was administered at doses of 375 mg/m2 ...
June 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29423202/azithromycin-suppressed-relapses-of-idiopathic-nephrotic-syndrome-in-a-child
#20
Hiromichi Hara, Daishi Hirano
Long-term immunosuppressive therapy with severe adverse effects is indispensable to maintain disease remission in frequently relapsing nephrotic syndrome (NS) in children. Hence, development of new therapy with less toxicity for relapses of NS is required. We demonstrated a case of a 2-year-old boy with frequently relapsing NS, whose frequent relapses were successfully treated with azithromycin. Azithromycin treatment prevented the need for long-term immunosuppressive therapy in this case. Azithromycin could be a new treatment option for relapse of NS, with few adverse effects, in selected cases...
February 2018: Clinical Kidney Journal
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