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]

Fatigue, decreased appetite, and pale skin and fingernails may also be present. What are nephrotic syndrome care options? Specific treatments depend on the cause and severity of the disease. Initially hospitalization may be required. [nicklauschildrens.org]

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]

• Malnutrition

  The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. [medlineplus.gov]

  The patient may have signs of malnutrition. [en.wikipedia.org]

  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]

  […] inflammatory disorders Chronic Inflammation Normal or Decreased albumin Increased a1G or a2Globulin Increased gamma Globulin Autoimmune diseases, chronic liver disease, chronic infection, cancer Hypo- albuminemia Decreased albumin Metastatic cancer, CHF, malnutrition [clinlabnavigator.com]

  Certain complications may develop because of prolonged kidney malfunction in Congenital Nephrotic Syndrome, and these may include: Acute kidney failure Blood clots Malnutrition Anemia Severe and chronic kidney failure End-stage kidney disease Cardiovascular [dovemed.com]

• Inflammation

  Interpretation of serum protein electrophoretic patterns is helpful in diagnosing some diseases The most commonly recognized electrophoretic patterns are acute inflammation, alpha-1 antitrypsin deficiency, chronic inflammation, cirrhosis, hypoalbuminemia [clinlabnavigator.com]

  This is a consequence of glomerular inflammation (known as glomerulonephritis) that results in hematuria, proteinuria, and hypertension. Here our glomerulus is damaged due to an inflammatory process. [study.com]

  Introduction The word “nephrosis” was introduced in the medical literature at the beginning of the 20th century in an attempt to distinguish diseases of the kidney characterized by exudation and proliferation from those characterized by inflammation [pedsinreview.aappublications.org]

  Such kidney disease may be due to abnormal degeneration of the tiny tubes (renal tubules) that collect, conduct, and secrete urine (nephrotic kidney disease) and/or inflammation and degeneration of the clusters of capillaries (renal glomeruli) that filter [rarediseases.org]

  Nephrotic syndrome can sometimes occur as a result of a kidney problem or another condition, such as: glomerulosclerosis – when the inside of the kidney becomes scarred glomerulonephritis – inflammation inside the kidney an infection – such as HIV or [nhs.uk]

• Pain

  Recurrent infections and/or general fatigue, lethargy, poor appetite, weakness or episodic abdominal pain may cause presentation to a doctor. [patient.info]

  Symptoms may include: Fatigue and malaise Decreased appetite Weight gain and facial swelling Abdominal swelling or pain Foamy urine Fluid accumulation in the body spaces (edema) Pale fingernail beds Dull hair Ears cartilage may feel less firm Food intolerances [stanfordchildrens.org]

  The following are the most common symptoms of nephrotic syndrome: Fatigue and malaise Decreased appetite Weight gain and facial swelling Abdominal swelling or pain Foamy urine Fluid accumulation in the body spaces (edema) Pale fingernail beds Dull hair [vidanthealth.com]

  […] exhibit partial dislocation (subluxation) of the patella and a limited range of movements of the knee(s), a deformity in which one or both legs bend outward at the knee (“bow-leg” or genu varum), and/or progressive degeneration, stiffness, tenderness, and pain [rarediseases.org]

  • Edema – Mild to start with – peri orbital puffiness, lower extremities – Progression to generalized edema, ascites, pleural effusion, genital edema • Decreased urine output • Anorexia, Irritability, Abdominal pain and diarrhoea • Absence of – Hypertension [slideshare.net]

• Asymptomatic

  […] transient & may evolve into an oligoclonal pattern All immunoglobulin classes are elevated along with monoclonal Slightly abnormal kappa:lambda ratio Bence Jones protein is absent from urine Serum protein electrophoresis should be repeated in one year for asymptomatic [clinlabnavigator.com]

  Initially, affected individuals may have no apparent symptoms (asymptomatic). As fluid pressure increases, some individuals with the condition may develop mild headaches, blurred vision, and/or the appearance of “halos” around certain lights. [rarediseases.org]

  CLINICAL FEATURES Minimal Change Nephrotic Syndrome Focal Segmental Glomerulosclerosis Membranous Nephropathy Age ( yr ) 2 - 6 2 - 10 40 - 50 Sex ( M : F ) 2 : 1 1.3 : 1 2 : 1 Nephrotic Syndrome 100 % 90 % 80 % Asymptomatic proteinuria 0 10 % 20 % Hematuria [slideshare.net]

  Membranoproliferative glomerulonephritis - primarily affects children and young adults; presents with nephrotic or nephritic syndrome, or with asymptomatic renal disease [ 7 ]. [patient.info]

• Sepsis

  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]

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

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

  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]

  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]

• Pleural Effusion

  Breathlessness: pleural effusion (occasionally, severely hypoalbuminaemic cases may have pleural effusions or ascites), fluid overload (high jugular venous pressure), acute kidney injury. [patient.info]

  • Edema – Mild to start with – peri orbital puffiness, lower extremities – Progression to generalized edema, ascites, pleural effusion, genital edema • Decreased urine output • Anorexia, Irritability, Abdominal pain and diarrhoea • Absence of – Hypertension [slideshare.net]

  Additional consequences include the following: Hypertension related to fluid retention and reduced kidney function may occur Edema of the gut may cause defective absorption, leading to malnutrition Ascites and pleural effusions may develop Infection Infection [emedicine.medscape.com]

  Shortness of breath may develop because fluid accumulates in the space surrounding the lungs ( pleural effusion ). Other symptoms may include swelling of the labia in women and, in men, the scrotum. [merckmanuals.com]

  Ascites, periorbital edema, hypertension, and pleural effusion are also possible presenting features. [aafp.org]

• Pneumonia

  Infection was a common problem: two children presented with Streptococcus pneumoniae peritonitis and both died within a few months of birth. [adc.bmj.com]

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

  Complications of the nephrotic state (eg, sepsis, pneumonia, myocardial infarction, deep vein thrombosis). Inability to comply independently with therapy or with the condition in the family. [patient.info]

  Proceedings Go to 2008 Echinococcosi polmonare: un caso clinico Proceedings Go to 2008 Mycoplasma Pneumoniae: analisi di una casistica annuale. [unipa.it]

• 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]

• Abdominal Pain

  • Edema – Mild to start with – peri orbital puffiness, lower extremities – Progression to generalized edema, ascites, pleural effusion, genital edema • Decreased urine output • Anorexia, Irritability, Abdominal pain and diarrhoea • Absence of – Hypertension [slideshare.net]

  Symptoms include vomiting, abdominal pain, and diarrhea. The signs include cold hands and feet, delayed capillary filling, oliguria, and tachycardia. Hypotension is a late feature. [emedicine.medscape.com]

  Recurrent infections and/or general fatigue, lethargy, poor appetite, weakness or episodic abdominal pain may cause presentation to a doctor. [patient.info]

  Symptoms Early symptoms include Loss of appetite A general feeling of illness (malaise) Puffy eyelids and tissue swelling (edema) due to excess sodium and water retention Abdominal pain Frothy urine The abdomen may be swollen because of a large accumulation [merckmanuals.com]

• Abdominal Distension

  distension in the first several weeks to months of life. [1] Fluid retention may lead to cough (from pulmonary edema ), ascities, and widened cranial sutures and fontanelles. [1] High urine protein loss can lead to foamy appearance of urine. [en.wikipedia.org]

  Ascites with abdominal distension occurs in most cases. [adc.bmj.com]

• Thrombosis

  Arterial thrombosis is rare in patients with NS. 1 In a historical case series of patients with NS, venous thrombosis of the lower limb occurred in 8% of patients, and renal venous thrombosis occurred in up to 25% of patients. [aafp.org]

  Hypercoagulability may manifest as venous or arterial thrombosis - eg, deep vein thrombosis, myocardial infarction. [patient.info]

  Congenital nephrotic syndrome and renal vein thrombosis in infancy. J Clin Pathol 1971; 24: 27-40. 43. Roy CC, Bedard G, Bonenfant JL, et al. [sjkdt.org]

  Some forms of heart failure can cause nephrotic syndrome, as can a blood clot that forms in a kidney vein (renal vein thrombosis). [southerncross.co.nz]

  In three patients, computed tomography scans of the brain identified evidence of intracerebral lesions shortly after birth, suggesting intrauterine thrombosis. [adc.bmj.com]

• Visual Impairment

  The degree of associated visual impairment depends upon the severity and/or combination of eye abnormalities present. [rarediseases.org]

• Meningism

  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]

• Kidney Failure

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

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

  Certain complications may develop because of prolonged kidney malfunction in Congenital Nephrotic Syndrome, and these may include: Acute kidney failure Blood clots Malnutrition Anemia Severe and chronic kidney failure End-stage kidney disease Cardiovascular [dovemed.com]

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

  Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. [ghr.nlm.nih.gov]

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]

• Pleural Effusion

  Breathlessness: pleural effusion (occasionally, severely hypoalbuminaemic cases may have pleural effusions or ascites), fluid overload (high jugular venous pressure), acute kidney injury. [patient.info]

  • Edema – Mild to start with – peri orbital puffiness, lower extremities – Progression to generalized edema, ascites, pleural effusion, genital edema • Decreased urine output • Anorexia, Irritability, Abdominal pain and diarrhoea • Absence of – Hypertension [slideshare.net]

  Additional consequences include the following: Hypertension related to fluid retention and reduced kidney function may occur Edema of the gut may cause defective absorption, leading to malnutrition Ascites and pleural effusions may develop Infection Infection [emedicine.medscape.com]

  Shortness of breath may develop because fluid accumulates in the space surrounding the lungs ( pleural effusion ). Other symptoms may include swelling of the labia in women and, in men, the scrotum. [merckmanuals.com]

  Ascites, periorbital edema, hypertension, and pleural effusion are also possible presenting features. [aafp.org]

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]

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

[…] complications. [1] Early and aggressive treatment is required to control the disorder. [en.wikipedia.org]

Early and aggressive treatment is needed to control this disorder. [medlineplus.gov]

These symptoms form the basis of diagnosis of Congenital Nephrotic Syndrome along with urine and blood tests The treatment is symptomatic and may involve dialysis of urine. [dovemed.com]

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]

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]

A correct diagnosis is important for prognosis, therapy, and genetic counseling. A good representative renal biopsy is essential. On the whole, all forms of CNS except the secondary ones have very poor prognosis. [sjkdt.org]

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]

Nongenetic forms Genetic defects account for the great majority of CNS cases, but especially in developing countries, infections are a possible etiology. [link.springer.com]

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]

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]

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]

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]

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]

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]