Here we present an autosomal-recessive disorder, nephrotic syndrome type 2 (MIM 600995), in which the pathogenicity of an NPHS2 allele encoding p.Arg229Gln depends on the trans-associated mutation. [hungary.pure.elsevier.com]

The present study revealed the genotype of a Chinese pedigree with autosomal recessive (AR) SRNS and reported a novel disease-causing NPHS2 mutation. METHODS: A Chinese pedigree with AR-SRNS was enrolled in the study. [ncbi.nlm.nih.gov]

Edema is a common presenting symptom but is not required to make the diagnosis. Most children with the nephrotic syndrome present with dramatic edema. They initially are often misdiagnosed as having an allergic reaction. [clinicaladvisor.com]

Patients with homozygous or compound heterozygous mutations commonly present with steroid-resistant nephrotic syndrome before the age of 6 years and rapidly progress to end-stage kidney disease with a very low prevalence of recurrence after renal transplantation [research-information.bristol.ac.uk]

The mean age of the patients at presentation was 2.4 +/- 1.2 years. All patients presented with a steroid resistant nephrotic syndrome. None had macroscopic hematuria. However 5 (62.5%) were hypertensive at presentation. [cags.org.ae]

• Turkish

  Links for NPHS2 Genetic Association Database (GAD) NPHS2 Human Genome Epidemiology (HuGE) Navigator NPHS2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NPHS2 No data available for Genatlas for NPHS2 Gene NPHS2 (podicin) mutations in Turkish [genecards.org]

  The NPHS2 allele harbouring these two variations in cis has repeatedly been found in patients with idiopathic nephrotic syndrome, particularly in the Turkish population. 4,7 Histopathologic findings showed diffuse mesangial proliferation or minimal change [revistanefrologia.com]

  NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr Nephrol. 2007; 22: 2031-40. 26. Wieder N, Greka A. [degruyter.com]

  NPHS2 (podocin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr. Nephrol. 22, 2031–2040 (2007). 14. Hinkes, B. et al. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J. Am. [nature.com]

  Three siblings with steroid-resistant nephrotic syndrome: new NPHS2 mutations in a Turkish family. Am J Kidney Dis. 2004; 44 :E22–E24. [ PubMed ] [ Google Scholar ] [ncbi.nlm.nih.gov]

• Respiratory Distress

  376 Bronchoscopy in the Pediatric Intensive Care Unit 390 Acute Lung Injury and Acute Respiratory Distress Syndrome 395 Mechanical Ventilation 412 VentilatorInduced Lung Injury 426 Prone Positioning 432 HighFrequency Oscillatory Ventilation 442 Pulmonary [books.google.com]

  (iv) Anasarca This is associated with the following complications viz. scrotal or vulvar oedema resulting in inability to walk and large pleural effusions and/or ascites leading to impaired diaphragmatic moment resulting in respiratory distress. [omicsonline.org]

• Oliguria

  Clinical signs included tachycardia, signs of peripheral vasoconstriction (cold, clammy peripheries with reduce volume pulses), and oliguria. Laboratory findings include raised plasma renin, aldosterone, and norepinephrine levels [ 45 ]. [omicsonline.org]

• Pericardial Effusion

  Some patients may develop anasarca with marked periobital oedema resulting in swollen shut eyelids, marked peripheral oedema, abdominal distension due to ascites, marked scrotal or vulval oedema and pleural and pericardial effusion. [omicsonline.org]

• HLA-A1

  There was also an increased frequency of the haplotype HLA-A1 and HLA-B8, mainly among the non-atopic patients [ 28 ]. [omicsonline.org]

TREATMENT Treatment for Nephrotic Syndrome Type 2 involves kidney transplantation prior to end-stage renal failure. [evolvegene.com]

Cyclosporine and tacrolimus This treatment is usually reserved for children who fail treatment with the agents above. [omicsonline.org]

Página 414 - Report of the National Cholesterol Education Program (NCEP) Expert Panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel II). ‎ [books.google.es]

“Treatment of FSGS in Children”. Advances in chronic kidney disease. vol. 21. 2014-03. pp. 194-199. (A review of treatments for FSGS in children.) [clinicaladvisor.com]

Treatment Treatment Options: There is no treatment for GAMOS. [disorders.eyes.arizona.edu]

As long as the child continues to respond to steroids, he/she most likely has MCNS and an excellent long term prognosis and renal biopsy is not indicated. [clinicaladvisor.com]

COMMON Features of the Disorder Excessive protein levels in the urine Excessive fat levels in the blood Swelling of the body Kidney abnormalities (e.g. scarring) Kidney disease PROGNOSIS Individuals with the disorder have onset of symptoms at varying [evolvegene.com]

The NPHS2 gene mutation leads to a variant of nephrotic syndrome that does not respond to steroid therapy, SRNS. 4 Lack of effective treatment and poor prognosis of chronic renal insufficiency and ESRD, make SRNS a significant therapeutic dilemma for [revistanefrologia.com]

The prognosis of steroid-resistant nephrotic syndrome is poor, as 30–40% develop end-stage renal disease (ESRD) requiring dialysis and transplantation (PMID: 19280229). [blueprintgenetics.com]

Steroids remain the mainstay of treatment and with the introduction of newer therapeutic agents, the prognosis of this disease has greatly improved. [omicsonline.org]

The etiology of minimal change nephrotic syndrome is unknown. [clinicaladvisor.com]

The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr. 2016 May;12(2):149-58. doi: 10.1007/s12519-016-0009-y. Epub 2016 Mar 9. [ghr.nlm.nih.gov]

Results A genetic etiology was identified in 28.3% of our cohort and the likelihood of establishing a genetic diagnosis decreased as the age at onset of nephrotic syndrome increased. [springermedizin.de]

Etiology, clinical features, and diagnosis of nephrotis syndrome in children. Up-to-date(R), 2 April 2013. Gigante M, Piemontese M, Gesualdo L, Iolascon A, Aucella F (2011) Molecular and genetic basis of inherited nephrotic syndrome. [omicsonline.org]

In view of the broad etiology and associated conditions, the pathologist very often has a critical role in guiding therapy in these patients. [frontiersin.org]

(PMID: 10742096) Boute N … Antignac C (Nature genetics 2000) 2 3 4 22 60 Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. [genecards.org]

Epidemiology of Nephrotic Syndrome The epidemiology of NS has been clearly delineated in developed countries from well-resourced registries and hospital records. [omicsonline.org]

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int. 75, 727–735 (2009). 17. Tsukaguchi, H. et al. [nature.com]

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int. 2009; 75 :727–735. [ PubMed ] [ Google Scholar ] 15. Bertelli R, Ginevri F, Caridi G, et al. [ncbi.nlm.nih.gov]

Moreover, our discovery of mutations in genes such as TTC21B and WDR73 has highlighted the emergent role of proteins involved in microtubule dynamic and organization in podocyte pathophysiology. [institutimagine.org]

Oxygen and BagValveMask Ventilation 217 Assessment and Management of the Pediatric Airway 223 Vascular Access 253 Shock An Overview 274 Acute Respiratory Failure 299 Pediatric Transport Medicine 308 Withdrawal of Life Support 320 Brain Death 324 The Pathophysiology [books.google.com]

The understanding of the pathophysiology of proteinuria in renal diseases has greatly expanded with insights into the molecular biology of the podocyte. [emedicine.medscape.com]

This may help to understand more precisely the pathophysiological mechanisms of INS and provide a first step toward the identification of the underlying genetic cause. [bmcnephrol.biomedcentral.com]

Pathophysiology of NS The primary defect in NS is loss of proteins in the kidney. [frontiersin.org]

The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. ‎ [books.google.es]

Treatment is based on relieving symptoms, preventing complications and delaying progressive kidney damage. [labs.gosh.nhs.uk]

Changing from alternate day to daily steroid administration prevents relapses from minor infections [ 71 ]. [omicsonline.org]

With the exception of infectious etiologies, there are no known preventative measures to decrease the risk of the nephrotic syndrome. D’Agati, VD, Fogo, AB, Bruijn, JA, Jennette, JC. [clinicaladvisor.com]

14 In terms of the other histopathologic variants of MCD, which portend a steroid-resistant course, genes involved in the pathogenesis of diffuse mesangial sclerosis have been identified. 15 Truncating mutations in phospholipase C epsilon 1 ( PLCE1 ) prevent [dovepress.com]