Given nephrin’s role in slit diaphragm structure, it is not surprising that FN patients present with massive proteinuria. Podocin mutations present with similar clinical symptoms and pathologic findings of FSGS. [basicmedicalkey.com]

Renal function was normal or only mildly impaired at presentation. Infection was a common problem: two children presented with Streptococcus pneumoniae peritonitis and both died within a few months of birth. [adc.bmj.com]

Most infants (77%) presented the nephrotic syndrome in the first three months of life and 26 (87%) had significant growth retardation. Twenty-five verified episodes of serious bacterial infections occurred in 18 patients. [cags.org.ae]

Case presentation The patient was 5 months old when he presented with acute gastroenteritis; he had no previous medical history, except for 3 episodes of bronchiolitis. [bmcnephrol.biomedcentral.com]

Clues that a monoclonal band is unlikely to be due to a malignant clonal expansion Acute phase pattern is present along with monoclonal band Monoclonal band is transient & may evolve into an oligoclonal pattern All immunoglobulin classes are elevated [clinlabnavigator.com]

• Sepsis

  Two children died from sepsis within the first 12 months and one child died perinatally of cerebral palsy. [adc.bmj.com]

  Sheu JN, Chen JH. 46,XY gonadal dysgenesis associated with congenital nephrotic syndrome and sepsis. Pediatr Nephrol 1999; 13: 927-9. 32. Drash A, Sherman F, Hartmann WH, Blizzard RM. [sjkdt.org]

  Acute kidney injury may also be caused by excessive diuresis, interstitial nephritis due to use of diuretics or NSAIDs, sepsis or renal vein thrombosis [ 8 ]. [patient.info]

  The most common infectious complications are bacterial sepsis, cellulitis, pneumonia, and peritonitis. [emedicine.medscape.com]

  Differential Diagnosis of Acute Kidney Injury in Nephrotic Syndrome Acute allergic interstitial nephritis secondary to use of various drugs, including diuretics Acute tubular necrosis caused by volume depletion or sepsis Adverse effects of drug therapy [aafp.org]

• Failure to Thrive

  Infants with congenital nephrotic syndrome may have failure to thrive and frequent infections. Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome Finnish type has been reported worldwide. [malacards.org]

  Patients with severe proteinuria may require bilateral nephrectomy because of severe hypoalbuminemia; dialysis should be initiated early to ameliorate nutritional deficits and mitigate failure to thrive. The disorder usually recurs in a renal graft. [msdmanuals.com]

  The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. [sjkdt.org]

  Congenital Nephrotic Syndrome • Presents in first 3 months of life • Anasarca, hypoalbuminaemia, oliguria ‘Finnish’ Type Nephrotic Syndrome • Antenatally detectable : – Raised AFP in maternal serum and amniotic fluid • Complications – Failure o thrive [slideshare.net]

• Kidney Failure

  About 10 to 30% develop progressive kidney failure. Relapses may respond to cyclophosphamide. [merckmanuals.com]

  Acute kidney failure. Available online at http://www.mayoclinic.com/health/kidney-failure/DS00280. Accessed March 2014. Mayo Clinic. Nephrotic syndrome. [labtestsonline.it]

  Since congenital nephrotic syndrome typically leads to kidney failure eventually, this radical approach merely pre-empts the inevitable. [gosh.nhs.uk]

  Common Features of the Disorder Increased risk for infections Increased levels of proteins in the blood Swelling of the body, particularly the face Malnutrition Growth delays Kidney failure Prognosis Individuals with Finnish Nephrosis have onset of symptoms [evolvegene.com]

  However, in about 5% of those affected, progressive kidney failure may result, causing potentially life-threatening complications. [rarediseases.org]

Acute Kidney Injury Workup. Medscape Reference. Available online at http://emedicine.medscape.com/article/243492-workup#c13. Accessed May 2016. (April 2014) Seaborg E. New Biomarkers Offer Hope for Identifying Acute Kidney Injury Risk. [labtestsonline.it]

[…] can vary from minimal change nephropathy to focal segmental glomerulosclerosis or diffuse mesanigial sclerosis. [3] [4] Electron microscopy shows podocyte disruption (loss of foot processes or slit diaphragm). [3] [4] Genetic analysis and infectious workup [en.wikipedia.org]

• Pseudomonas

  However, others managed to survive life threatening infections including one patient who developed Haemophilus influenzae meningitis aged 14 months and another who recovered from pseudomonas septicaemia. [adc.bmj.com]

• HLA-Cw6

  In the patient group, HLA-DR7 and HLA-CW6 were found to be significantly increased, while HLA-DQW1 and HLA-CW4 were significantly reduced. [cags.org.ae]

• HLA-DR7

  In the patient group, HLA-DR7 and HLA-CW6 were found to be significantly increased, while HLA-DQW1 and HLA-CW4 were significantly reduced. [cags.org.ae]

Treatment Treatment for Finnish Nephrosis involves kidney transplantation in early childhood (age 3). [evolvegene.com]

The growth and development of infants and children is slowed and remains slowed despite treatment. They may need a feeding tube during infancy to ensure they get enough nutrients and calories. [thinkgenetic.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Depending on the severity of the disease and the decisions you make with the doctors, there are two main treatment possibilities: Intensive treatment This involves a long-term admission to hospital. [gosh.nhs.uk]

After dialysis and subsequent renal transplantation many of these children have now achieved an excellent quality of life and good long term prognosis. [adc.bmj.com]

Primary Glomerular Disorders That Can Cause Nephrotic Syndrome Glomerular Disorder Description Prognosis Minimal change disease This mild disease of the glomerulus is more common in children but also affects adults. The prognosis is good. [merckmanuals.com]

[…] are transplanted have 30% rate of recurrent nephrotic syndrome Not a recurrence but instead secondary to anti-nephrin antibodies Plasmapheresis, cyclophosphamide, and methylprednisolone prolongs graft survival in patients with antinephrin antibodies Prognosis [basicmedicalkey.com]

Prognosis • Steroid Responsive NS : Good prognosis ( MCNS ) • Steroid Resistant NS : Poor prognosis ( FSGS ) - Nelson Textbook of Paediatrics, Vol 2, 19th Edition, page 1806 30. [slideshare.net]

Common Features of the Disorder Increased risk for infections Increased levels of proteins in the blood Swelling of the body, particularly the face Malnutrition Growth delays Kidney failure Prognosis Individuals with Finnish Nephrosis have onset of symptoms [evolvegene.com]

CNS can have primary and secondary etiologies. The most common is CNS of the Finnish type. As a primary etiology, its cause remains unknown. [pedsinreview.aappublications.org]

Etiology It is caused, in Finnish families as well as in other families, by mutations in the NPHS1 gene, localised to chromosome 19. [orpha.net]

TERMINOLOGY Abbreviations Finnish nephropathy (FN) Synonyms Microcystic kidney disease Definitions Steroid-resistant nephrotic syndrome in neonates up to 3 months of age due to mutations in nephrin ( NPHS1 ) gene ETIOLOGY/PATHOGENESIS Genetics Autosomal [basicmedicalkey.com]

Etiology • Genetic • Secondary • Idiopathic or Primary 6. [slideshare.net]

New chapters on glomerulonephritis associated with complement disorders, interventional treatments for hypertension, renal disease and cancer, and epidemiology and prognostic impact of acute kidney injury. [books.google.de]

Summary Epidemiology This type of nephrotic syndrome is more frequent in Finland (with an incidence of 1 in 8 200 births) but it is also observed in various ethnic groups worldwide. [orpha.net]

Heterozygotes with 1 normal NPHS1 allele (carriers) are normal post birth In utero may have transient deficiency of nephrin during podocytogenesis Can lead to false-positive α-fetoprotein (AFP) test in amniotic fluid and maternal serum CLINICAL ISSUES Epidemiology [basicmedicalkey.com]

B 15 Epidemiology The annual incidence of NS in adults is three per 100,000 persons. Approximately 80% to 90% of NS cases in adults are idiopathic. [aafp.org]

From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career. [books.google.de]

The pathophysiology of edema formation in the nephrotic syndrome. Kidney Int. 2012;82(6):635–642. 5. Kerlin BA, Ayoob R, Smoyer WE. Epidemiology and pathophysiology of nephrotic syndrome-associated thromboembolic disease. [aafp.org]

Pathophysiology Proteinuria and Hypoalbuminemia Proteinuria is the result of alterations in the integrity of the glomerular filtration barrier. [pedsinreview.aappublications.org]

Pathophysiology 10. http://www.highlands.edu/academics/divisions/scipe/biology/faculty/harnden/2122/images/renalcorpuscle.jpg 11. [slideshare.net]

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

Sodium prevents your kidneys from removing phosphorus from the blood. High phosphorus levels in the blood can lead to weak and brittle bones — making them easier to break. [actharexcessprotein.com]

How to use an article about therapy or prevention. B. What were the results and will they help me in caring for my patients? Evidence-Based Medicine Working Group. JAMA 1994;271:59-63. 79. [books.google.de]

Some patients take blood thinners to prevent this complication. Causes of Nephrotic Syndrome There are a number of different disorders that can cause NS. [healthcommunities.com]

Anticoagulants (such as aspirin, dipyridamole, and warfarin ) are used to prevent clot formation. [2] [3] Dietary modifications may include the restriction of sodium and use of dietary supplements as appropriate for the nature and extent of malnutrition [en.wikipedia.org]