Materiały źródłowe

• #1 Diagnosis and Management of Nephrotic Syndrome in Adults | AAFP

  https://www.aafp.org/pubs/afp/issues/2016/0315/p479.html

  Nephrotic syndrome (NS) consists of peripheral edema, heavy proteinuria, and hypoalbuminemia, often with hyperlipidemia. The diagnosis of NS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia. […] The diagnostic criteria for NS are listed in Table 2. Confirmation of proteinuria via 24-hour urine collection is cumbersome for patients, and the specimen can be collected incorrectly. The protein-to-creatinine ratio from a single urine sample is commonly used to diagnose nephrotic-range proteinuria. […] Further diagnostic assessment of patients with NS has three goals: to assess for complications, identify underlying disease, and potentially determine the histologic type of idiopathic NS. The role of renal biopsy in patients with NS is controversial, and there are no evidence-based guidelines regarding indications for biopsy.

• #2 Nephrotic Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470444/

  Nephrotic syndrome (NS) is a clinical syndrome defined by massive proteinuria (greater than 40 mg/m^2 per hour) responsible for hypoalbuminemia (less than 30 g/L), with resulting hyperlipidemia, edema, and various complications. […] Nephrotic-range proteinuria is defined as the urinary loss of 3 grams or more of proteins per 24 hours or, on a single spot urine sample, the presence of 2 g of protein per gram of urinary creatinine. This proteinuria can also result from other systemic diseases, such as amyloidosis. […] Urine tests: Nephrotic-range proteinuria will be apparent by 3+ or 4+ readings on the dipstick or by semiquantitative testing by sulfosalicylic acid. A 3+ reading represents 300 mg/dL of urinary protein or more, which correlates with a daily loss of 3 g or more and thus is in the nephrotic range. Urine samples over 24 hours (for an accurate measure) and proteinuria (3 g protein) is diagnostic.

• #3 Evaluation of nephrotic syndrome – Differential diagnosis of symptoms | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/356

  Nephrotic syndrome is defined as the presence of proteinuria (3.5 g/24 hours), hypoalbuminemia (3.0 g/dL), and peripheral edema. […] The challenge is to determine the underlying etiology causing the nephrotic syndrome in any given patient. […] Nephrotic syndrome is associated with significant morbidity and mortality; therefore, these patients require specialized input and assessment. […] Patients become hypoalbuminemic due to the urinary loss of albumin. […] Hypercoagulability and thrombosis (deep vein thrombosis, pulmonary emboli, renal vein thrombosis) is a recognized life-threatening complication of nephrotic syndrome. […] Patients with nephrotic syndrome are at increased risk of infection due to loss of immunoglobulins, complement, and other compounds in the urine.

• #4 Overview of Nephrotic Syndrome – Genitourinary Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/genitourinary-disorders/glomerular-disorders/overview-of-nephrotic-syndrome

  Nephrotic syndrome is urinary excretion of 3 g of protein/day due to a glomerular disorder plus edema and hypoalbuminemia. […] Diagnosis is by determination of urine protein/creatinine ratio in a random urine sample or measurement of urinary protein in a 24-hour urine collection; cause is diagnosed based on history, physical examination, serologic testing, and renal biopsy. […] Diagnosis is suspected in patients with edema and proteinuria on urinalysis and confirmed by random (spot) urine protein and creatinine levels or 24-hour measurement of urinary protein. The cause may be suggested by clinical findings (eg, systemic lupus erythematosus, preeclampsia, cancer); when the cause is unclear, additional (eg, serologic) testing and renal biopsy are indicated. […] A finding of significant proteinuria (3 g protein in a 24-hour urine collection) is diagnostic (normal excretion is 150 mg/day). […] Urinalysis may demonstrate casts (hyaline, granular, fatty, waxy, or epithelial cell). […] Adjunctive testing helps characterize severity and complications. […] Renal biopsy is indicated in adults to diagnose the disorder causing idiopathic nephrotic syndrome.

• #5 Nephrotic syndrome (NS) – kidney.wiki

  https://kidney.wiki/glomerular-disease/nephrotic-syndrome/

  Minimal change disease (MCD) is the most common cause of nephrotic syndrome in children, affecting 2-7 in 100,000 children. […] Presents with nephrotic range proteinuria, hypoalbuminemia, gravity-dependent edema, and hyperlipidemia without evidence of systemic disease. […] Heavy (nephrotic range) proteinuria. […] Hypoalbuminemia (serum albumin < 3.0 g/dL or 30 g/L). [...] Edema is often present, especially at disease onset, but not required for diagnosis unless albumin level is not known. [...] Hyperlipidemia (total cholesterol 200 mg/dL) is almost always present and often severe (350 mg/dL or 9.06 mmol/L), but not required for diagnosis. [...] First morning urine protein/creatinine ratio (UPCR, PCR, UPC) 2.0 g/g (or 200 mg/mmol). [...] There is no universally accepted definition of nephrotic range proteinuria when using urine albumin creatinine ratio (UACR).

• #6 Nephrotic syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/nephrotic-syndrome/diagnosis-treatment/drc-20375613

  Tests and procedures used to diagnose nephrotic syndrome include: […] A urinalysis can reveal abnormalities in your urine, such as large amounts of protein. You might be asked to collect urine samples over 24 hours. […] A blood test can show low levels of the protein albumin and often decreased levels of blood protein overall. Loss of albumin is often associated with an increase in blood cholesterol and blood triglycerides. The creatinine and urea nitrogen levels in your blood also might be measured to assess your overall kidney function. […] Your doctor might recommend removing a small sample of kidney tissue for testing. During a kidney biopsy, a needle is inserted through your skin and into your kidney. Kidney tissue is collected and sent to a lab for testing. […] What tests do I or my child need?

• #7 Nephrotic syndrome: symptoms, causes, treatment and diagnosis

  https://www.kidneyresearchuk.org/conditions-symptoms/nephrotic-syndrome/

  Blood and urine tests can easily confirm nephrotic syndrome by showing large amounts of protein in your urine and low levels of protein in your blood, together with a raised blood cholesterol level. […] Further blood and urine tests can also gauge your level of kidney function. A kidney biopsy may also be required to confirm the exact cause of your nephrotic syndrome. This is a medical procedure to take small samples of the kidney to look at under the microscope. […] Children may also be offered the option of genetic testing in order to see if their nephrotic syndrome is resistant to steroids.

• #8 Nephrotic Syndrome Workup: Approach Considerations, Urine Studies, Kidney Biopsy

  https://emedicine.medscape.com/article/244631-workup

  Diagnostic studies for nephrotic syndrome may include the following: Urinalysis, Urine sediment examination, Urinary protein measurement, Serum albumin, Serologic studies for infection and immune abnormalities, Renal ultrasonography, Kidney biopsy. […] In infants with nephrotic syndrome, genetic testing for the NPHS1 and NPHS2 mutations may be useful. These are mutations of nephrin and podocin, respectively. In children with steroid-resistant nephrotic syndrome, testing for the NPHS2 mutation may be indicated. […] Urinalysis is the first test used in the diagnosis of nephrotic syndrome. Nephrotic-range proteinuria will be apparent by 3+ or 4+ readings on the dipstick, or by semiquantitative testing by sulfosalicylic acid. A 3+ reading represents 300 mg/dL of urinary protein or more, which correlates with a daily loss of 3 g or more and thus is in the nephrotic range.

• #9 Nephrotic syndrome – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/nephrotic-syndrome/

  Nephrotic syndrome is a collection of signs and symptoms indicating damage to the glomerular filtration barrier. […] Typical laboratory findings of nephrotic syndrome include hyperlipidemia and fatty casts on urinalysis. […] Treatment for FSGS, membranous nephropathy, and MCD usually includes immunosuppressive therapy. […] Nephrotic syndrome may be caused by primary glomerular disorders (80-90% of cases) and/or systemic diseases and toxic exposures (10-20% of cases). […] Confirm nephrotic-range proteinuria. […] Assess for potential concomitant and underlying conditions. […] Assess for nephrotic syndrome complications. […] Consider kidney biopsy to determine renal pathology. […] Qualitative assessment by urine dipstick: (commonly used for screening) usually shows 3+ proteins.

• #10 Nephrotic syndrome – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/nephrotic-syndrome/

  Quantitative assessment of urine protein excretion: 24-hour urine protein (test of choice): 3.5 g/24 hours. […] Nephrotic sediment includes lipiduria, fatty casts with Maltese cross appearance under polarized light. […] Additional testing to assess for potential concomitant conditions and underlying causes should be based on clinical suspicion. […] Indication for renal biopsy is to confirm the diagnosis when the etiology of nephrotic syndrome is unclear and/or to guide management.

• #11 Nephrotic syndrome: tests and diagnosis | infoKID

  https://infokid.org.uk/conditions/nephrotic-syndrome/nephrotic-syndrome-tests-and-diagnosis/

  Your doctor can diagnose nephrotic syndrome by doing a physical examination and asking about the symptoms. Your child will need one or more urine tests, and may need other tests, such as blood tests or imaging tests. […] The dipstick urine test shows whether there is any protein in the urine, but does not give an accurate measurement. This can be calculated in the laboratory. The amount of protein is compared to the amount of creatinine, a waste product made in the body, which is normally removed by the kidneys into urine. […] The amount of protein in the blood, including a type called albumin, can be measured. Because albumin is small, it is more likely to leak through the glomeruli, which means there may be less albumin in the blood. […] The kidney function can be measured by the glomerular filtration rate (GFR). The GFR is the amount of fluid the kidneys filter each minute. It can be estimated by measuring the amount of creatinine in the blood. […] A kidney biopsy is not usually needed, but your doctor may recommend one to find out if there is damage is in the kidney. This is especially important if your child has relapses, as some medicines that are used to treat the nephrotic syndrome may harm the kidneys.

• #12

  https://link.springer.com/article/10.1007/s00467-022-05739-3

  We recommend using the definitions given in Table 1 for the diagnosis and management of children with SSNS (grade X, moderate recommendation). […] We recommend a work-up for the diagnosis of nephrotic syndrome (NS) in all children with gravity-dependent edema (grade A, strong recommendation). […] We recommend using spot urine samples, preferably a first morning void, or alternatively a 24-h urine sample to assess proteinuria (grade B, moderate recommendation). […] We recommend confirming nephrotic range proteinuria at least once by quantification of proteinuria before initiating treatment for the first episode (grade B, moderate recommendation). […] We do not recommend routine kidney biopsy and genetic testing in the initial diagnostic work-up of children with NS who present with typical features and age 1 year (grade B, moderate recommendation).

• #13

  https://link.springer.com/article/10.1007/s00467-022-05739-3

  We recommend considering genetic testing and/or kidney biopsy in infantile onset NS (age 3-12 months) (grade B, weak recommendation). […] The diagnostic laboratory finding in children with NS is nephrotic range proteinuria (Table 1) defined by 3+ on urine dipstick in a spot urine, a urinary protein creatinine ratio (UPCR) 200 mg/mmol (2 mg/mg) or proteinuria 40 mg/m2/h or 1000 mg/m2/day in a 24-h urine collection (Table 1). […] The proposed definition of frequently relapsing nephrotic syndrome (FRNS) differs from previous ones including those from KDIGO. […] Kidney biopsies are not routinely performed in children with SSNS because they have limited prognostic or clinical utility. If a biopsy is done the most common diagnoses are minimal change disease (MCD) showing either minimal changes, i.e., podocyte foot process effacement, or mild mesangial proliferation with IgM deposition, or less commonly focal-segmental glomerulosclerosis (FSGS).

• #14 Nephrotic Syndrome Workup: Approach Considerations, Urine Studies, Kidney Biopsy

  https://emedicine.medscape.com/article/244631-workup

  For childhood nephrotic syndrome, indications for kidney biopsy include the following: Congenital nephrotic syndrome, Age older than 8 years at onset, Steroid resistance, Frequent relapses or steroid dependency, Significant nephritic manifestations. […] Adult nephrotic syndrome of unknown origin may require a kidney biopsy for diagnosis. Reaching a pathological diagnosis is important because minimal-change disease, focal glomerulosclerosis, and membranous nephropathy have different treatment options and prognoses. […] Serum tests for kidney function are essential. Serum creatinine will be in the normal range in uncomplicated nephrotic syndrome, such as that occurring in minimal-change nephropathy. […] The serum albumin level is classically low in nephrotic syndrome, being below its normal range of 3.5-4.5 g/dL.

• #15 Congenital Nephrotic Syndrome: Symptoms, Diagnosis, and Treatment – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/congenital-nephrotic-syndrome-symptoms-diagnosis-and-treatment/

  Results that Indicate Congenital Nephrotic Syndrome: In congenital nephrotic syndrome, urinalysis will typically show high levels of protein in the urine (proteinuria). This indicates that the kidneys’ glomeruli are damaged and allowing proteins to leak out. If the test shows significant proteinuria, further testing will be needed to confirm the diagnosis and assess the severity of the condition. If the urinalysis comes back negative but symptoms persist, additional tests may be required to rule out other causes. […] […] Blood tests measure various components of the blood, including albumin, creatinine, and cholesterol levels. These tests help assess kidney function and the patient’s overall health. In congenital nephrotic syndrome, blood tests are particularly important for detecting hypoalbuminemia (low albumin levels) and hyperlipidemia (high blood fat levels). Blood tests are usually performed by drawing a small sample from a vein in the arm.

• #16 Nephrotic Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470444/

  Blood tests: The serum albumin level is classically low in nephrotic syndrome. Serum albumin often is less than the normal range of 3.5 to 4.5 g/dL. […] Renal biopsy: This is indicated for the following: congenital nephrotic syndrome, children older than eight years at the onset, steroid resistance, frequent relapses or steroid dependency, significant nephritic manifestations. It is worth noting that in clinical practice, kidney biopsies frequently reveal glomerular diseases to be the cause of nephrotic-range proteinuria and not tubular diseases.

• #17 Nephrotic Syndrome Workup: Approach Considerations, Urine Studies, Kidney Biopsy

  https://emedicine.medscape.com/article/244631-workup

  In adults with nephrotic syndrome, tests for hepatitis B and C, HIV, and even syphilis may be useful. Tests for lupus, including antinuclear antibody (ANA), antidouble stranded DNA (anti-dsDNA) antibodies, and complement, may be useful. […] Phospholipase A2 receptor (PLA2 R) is a cell surface transmembrane receptor expressed on the surface of podocytes. Seventy percent of patients with idiopathic membranous nephropathy have autoantibodies directed against PLA2 R. […] Ultrasonographic scanning shows whether a patient has two kidneys. Individuals with a single kidney may be prone to developing focal glomerulosclerosis.

• #18 Pediatric Nephrotic Syndrome Workup: Approach Considerations, Urine Studies, Blood Studies

  https://emedicine.medscape.com/article/982920-workup

  Therefore, in addition to the above tests, the following should be selectively included in the workup: Complete blood cell (CBC) count, Metabolic panel (serum electrolytes, blood urea nitrogen [BUN] and creatinine, calcium, phosphorus, and ionized calcium levels), Testing for human immunodeficiency virus (HIV), hepatitis B and C viruses, Complement studies (C3, C4), Antinuclear antibody (ANA), antidouble-stranded DNA antibody, anti-neutrophil cytoplasmic antibodies (in selected patients). […] Patients with INS lose vitamin D binding protein, which can result in low vitamin D levels, and thyroid-binding globulin, which can result in low thyroid hormone levels. Consideration should be given, especially in the child with frequently relapsing or steroid-resistant nephrotic syndrome, to testing for 25-OH-vitamin D; free T4; and thyroid-stimulating hormone (TSH).

• #19 Nephrotic syndrome: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000490.htm

  Nephrotic syndrome is a group of symptoms and abnormal test results that include protein in the urine, low blood protein levels in the blood, high cholesterol levels, high triglyceride levels, increased blood clot risk, and swelling. […] Your health care provider will perform a physical exam. Laboratory tests will be done to see how well the kidneys are working. They include: Albumin blood test, Blood chemistry tests, such as basic metabolic panel or comprehensive metabolic panel, Blood urea nitrogen (BUN), Creatinine – blood test, Creatinine clearance – urine test, Urinalysis. […] A kidney biopsy may be needed to find the cause of the disorder. […] Tests to rule out various causes may include the following: Antinuclear antibody, Cryoglobulins, Complement levels, Glucose tolerance test, Hepatitis B antigen, Hepatitis C antibodies, HIV test, Rheumatoid factor, Serum protein electrophoresis (SPEP), Syphilis serology, Urine protein electrophoresis (UPEP). […] This disease may also change the results of the following tests: Vitamin D level, Serum iron, Urinary casts.

• #20 Understanding Nephrotic Syndrome: Causes, Symptoms, Diagnosis & Treatment

  https://www.yashodahospitals.com/blog/nephrotic-syndrome-types-causes-diagnosis-treatment/

  In a few instances, a kidney biopsy (taking a small sample of tissue for testing) is required. This determines the particular form of kidney disease responsible for nephrotic syndrome and helps in treatment. […] Testing for these autoantibodies allows physicians to monitor the activity of the disease and the effectiveness of treatment. […] Further testing may be necessary. Tests for autoimmune disease (such as lupus), infection, or genetic testing if a hereditary cause is in question may be included.

• #21 Nephrotic Syndrome in Adults: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2009/1115/p1129.html

  Nephrotic syndrome may be caused by primary (idiopathic) renal disease or by a variety of secondary causes. […] There are no established guidelines on the diagnostic workup or management of nephrotic syndrome. […] Typical clinical and laboratory features of nephrotic syndrome are sufficient to establish the diagnosis of nephrotic syndrome. […] The diagnostic evaluation focuses on identification of an underlying cause and on the role of renal biopsy. […] Initial investigation should include history, physical examination, and a serum chemistry panel. […] Imaging studies are generally not helpful in assessing persons with nephrotic syndrome. […] Renal biopsy is often recommended in persons with nephrotic syndrome to establish the pathologic subtype of the disease, to assess disease activity, or to confirm the diagnosis of diseases, such as amyloidosis or systemic lupus erythematosus. […] There are, however, no clear guidelines on when renal biopsy is indicated or whether it is needed in all persons with nephrotic syndrome.

• #22 Nephrotic Syndrome in Children | National Kidney Foundation

  https://www.kidney.org/kidney-topics/nephrotic-syndrome-children

  Nephrotic syndrome in kids causes swelling and protein loss in urine. […] Nephrotic syndrome is a kidney condition that leads to swelling and other symptoms. […] In children with nephrotic syndrome, tiny filters in the kidneys, called glomeruli, are injured. […] Swelling around the eyes may be confused with allergies. However, urine tests that shows large amounts of protein usually point to nephrotic syndrome. […] How is nephrotic syndrome diagnosed? […] Sometimes a diagnosis is made from lab results and physical exam. Other times a kidney biopsy is needed to confirm the type of nephrotic syndrome. […] If your physician thinks your child has MCD, a kidney biopsy typically is not needed. However, if treatment does not stop protein from leaking into the urine, your kidney doctor may do a kidney biopsy.

• #23 Nephrotic Syndrome in Children | National Kidney Foundation

  https://www.kidney.org/kidney-topics/nephrotic-syndrome-children

  Your child’s doctor may also decide if a kidney biopsy is needed if: […] Test results suggest a diagnosis other than MCD. […] There are signs of poor kidney function (measured by a blood test called creatinine, which is used in a calculation to determine kidney function). […] A large amount of blood is found in the urine. […] A family history of certain kidney diseases exists.

• #24 Diagnosis and Management of Nephrotic Syndrome in Adults – PubMed

  https://pubmed.ncbi.nlm.nih.gov/26977832/

  Nephrotic syndrome (NS) consists of peripheral edema, heavy proteinuria, and hypoalbuminemia, often with hyperlipidemia. […] The diagnosis of NS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia. […] The patient history and selected diagnostic studies rule out important secondary causes, including diabetes mellitus, systemic lupus erythematosus, and medication adverse effects. […] Renal biopsy is often recommended, although it may be most useful in patients with suspected underlying systemic lupus erythematosus or other renal disorders, in whom biopsy can guide management and prognosis.

• #25 Nephrotic syndrome (NS) – kidney.wiki

  https://kidney.wiki/glomerular-disease/nephrotic-syndrome/

  In most patients, the diagnosis can be made clinically and a kidney biopsy is not necessary. […] Indications for kidney biopsy include steroid resistance, impaired kidney function (AKI) not due to hypovolemia, macroscopic (gross) hematuria, sustained hypertension, and persistent microscopic hematuria in the setting of hypertension. […] If there are no other indications for biopsy, it is still reasonable to presume minimal change disease (MCD) and trial steroids first and biopsy if resistant to steroids or other manifestations emerge.

• #26 Pediatric Nephrotic Syndrome Workup: Approach Considerations, Urine Studies, Blood Studies

  https://emedicine.medscape.com/article/982920-workup

  A kidney biopsy is not indicated for the first presentation of INS in children aged 1-12 years unless the history, physical findings, or laboratory results indicate the possibility of secondary nephrotic syndrome or primary nephrotic syndrome other than MCNS. […] Kidney biopsy is indicated in patients younger than 1 year, when genetic forms of congenital nephrotic syndrome are more common, and in patients older than 12 years, when chronic glomerular diseases such as FSGS have a higher incidence. […] Finally, in patients who are initially or subsequently unresponsive to steroid treatment, kidney biopsy should be performed, because steroid unresponsiveness has a high correlation with prognostically unfavorable histopathological findings, such as those associated with FSGS or membranous glomerulonephritis (MGN).

• #27 Nephrotic Syndrome: In Children, Treatment, and Causes

  https://www.healthline.com/health/nephrotic-syndrome

  To diagnose nephrotic syndrome, your doctor will first take your medical history. Youll be asked about your symptoms, any medications youre taking, and whether you have any underlying health conditions. […] Several tests are used to help diagnose nephrotic syndrome. They include: […] Urine tests. Youll be asked to provide a sample of urine. This can be sent to a laboratory to determine whether you have high amounts of protein in your urine. In some cases, you may be asked to collect urine over a 24-hour period. […] Blood tests. In these tests, a sample of blood will be taken from a vein in your arm. This sample can be analyzed to check blood markers of overall kidney function, blood levels of albumin, and cholesterol and triglyceride levels. […] Ultrasound. An ultrasound uses sound waves to create an image of your kidneys. Your doctor can use the images created to evaluate the structure of your kidneys. […] Biopsy. During a biopsy, a small sample of kidney tissue will be collected. This can be sent to a lab for further testing and can help to determine what may be causing your condition.

• #28 Diagnostic and Management Challenges in Congenital Nephrotic Syndrome | PHMT

  https://www.dovepress.com/diagnostic-and-management-challenges-in-congenital-nephrotic-syndrome-peer-reviewed-fulltext-article-PHMT

  Congenital Nephrotic Syndrome (CNS) is defined as nephrotic range proteinuria, hypoalbuminaemia and edema in the first three months of life. […] The diagnosis of CNS may be suspected antenatally, with placentomegaly being a commonly reported feature. […] Initial investigations aim to establish the likely diagnosis, exclude important secondary cause, and identify any complications that may require immediate management. […] The diagnosis of CNS is strongly suggested by the detection of massive nephrotic range proteinuria. […] Traditionally, the diagnosis was clinical. Persisting nephrotic range proteinuria presenting aged less than 3 months, and in the absence of an apparent secondary cause (i.e. congenital infection) would suggest the diagnosis. […] Histological confirmation either by percutaneous renal biopsy or by examination of nephrectomy material would then confer a confirmed diagnosis.

• #29 Diagnostic and Management Challenges in Congenital Nephrotic Syndrome | PHMT

  https://www.dovepress.com/diagnostic-and-management-challenges-in-congenital-nephrotic-syndrome-peer-reviewed-fulltext-article-PHMT

  However, the undertaking of percutaneous renal biopsy is not without risk. […] The advent of genetic mutational analysis has led to more specific diagnoses of CNS. […] The majority of cases of CNS are caused by mutations in four notable genes; NPHS1, NPHS2, WT1 and LAMB2. […] The increasing availability of mutational analysis and technology that permits interrogation of multiple relevant genes on a single sample has altered the diagnostic pathway for infants with significant proteinuria. […] Overall, two main management strategies persist. Bilateral nephrectomy, especially in those with severe disease, or those with significant malignant risk, i.e. WT1 mutations, with early consideration of transplantation. […] Unilateral nephrectomy combined with medical anti-proteinuric strategies including ACEi and indomethacin, with optimised supportive renal care.

• #30 Assessment of nephrotic syndrome – Differential diagnosis of symptoms | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/356

  Nephrotic syndrome is defined as the presence of proteinuria (3.5 g/24 hours), hypoalbuminaemia (30 g/L), and peripheral oedema. […] The challenge is to determine the underlying aetiology causing the nephrotic syndrome in any given patient. […] Nephrotic syndrome is associated with significant morbidity and mortality; therefore, these patients require specialised input and assessment. […] Hypercoagulability and thrombosis (deep vein thrombosis, pulmonary emboli, renal vein thrombosis) is a recognised life-threatening complication of nephrotic syndrome. […] Patients with nephrotic syndrome are at increased risk of infection due to loss of immunoglobulins, complement, and other compounds in the urine.

• #31 A Complete Guide to Nephrotic Syndrome | Manipal TRUtest

  https://www.manipaltrutest.com/blogs/a-complete-guide-to-nephrotic-syndrome?srsltid=AfmBOopouPckYOd1NrVnYK7AzIayBSLe7SJYtJeKoQZxPqQRZvH_HBsv

  Serum Albumin: Low levels indicate hypoalbuminemia. […] Nephrotic syndrome can be caused by various conditions, including: – Minimal change disease – Focal segmental glomerulosclerosis – Membranous nephropathy – Diabetic nephropathy – Lupus nephritis […] Treatment of nephrotic syndrome involves addressing the underlying cause, managing symptoms, and preventing complications. Common treatments include medications to reduce proteinuria, control blood pressure, lower cholesterol levels, and prevent blood clots. […] In some cases, immunosuppressive therapy may be prescribed if the syndrome is caused by an autoimmune condition. Patients with nephrotic syndrome need to be closely monitored by a healthcare provider to manage their condition effectively and prevent long-term complications such as kidney failure.

• #32 Nephrotic Syndrome Clinic – Division of Nephrology

  https://nephrology.wustl.edu/patient-care/clinics/nephrotic-syndrome-clinic/

  The diseases defining primary nephrotic syndrome (NS) are minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS) and membranous nephropathy (MN). They are characterized by heavy proteinuria, hypoalbuminemia, edema and hyperlipidemia, often leading to progressive loss of kidney function. […] We perform translational research to develop and validate blood and urine biomarkers for early diagnosis, progression prediction, and treatment response monitoring. […] Dr. Chen was invited to present a lecture about Nephrotic syndrome diagnosis and management: traditional and novel approaches for the American Society of Nephrology annual meeting Early Program, Glomerular Disease 2023 Update.

• #33 An Updated Comprehensive Review on Diseases Associated with Nephrotic Syndromes

  https://www.mdpi.com/2227-9059/12/10/2259

  There have been exciting advances in our knowledge of primary glomerular diseases and nephrotic syndromes in recent years. […] New biomarkers have led to easier and more accurate diagnoses and more targeted therapeutic decisions. […] Renal biopsy is an essential part of the diagnostic process. […] This assessment may have to be adapted in the future with the evolution of new antibodies and other non-invasive diagnostic options (e.g., PLA2R-ab and Nephrin-Ab). […] Kidney biopsy is the gold standard for diagnosis of MN, but a validated serologic-based diagnostic approach has recently emerged. […] All patients should be tested for PLA2R and THSD7A autoantibodies. […] If anti-PLA2R-ab serology is positive with no evidence of secondary causes and kidney function is normal, the diagnosis of primary PLA2R-associated MN can be made without a kidney biopsy.

• #34 An Updated Comprehensive Review on Diseases Associated with Nephrotic Syndromes

  https://www.mdpi.com/2227-9059/12/10/2259

  It is unclear whether this also applies to THSD7A-positive patients. […] There is a paucity of data in patients with impaired kidney function or evidence of secondary causes of MN, a kidney biopsy should be performed to exclude secondary causes or superimposed diseases. […] If staining for PLA2R is negative, subsequent testing for further antigens should be performed. […] The clinical presentation of the diagnosis of MPGN is similar to other types of glomerulonephritis. […] Kidney biopsy is essential for diagnosing MPGN. […] Upon diagnosis of I-MPGN, secondary forms need to be excluded through an extensive search for triggering underlying diseases. […] The clinical presentation of the diagnosis of MPGN is similar to other types of glomerulonephritis. […] The diagnosis of MGRS should be suspected in the context of acute kidney injury and/or glomerular proteinuria in patients with circulating monoclonal antibodies and confirmed by renal biopsy.

• #35 Diagnosis and treatment of secondary nephrotic syndrome with rash as the first symptom: a case report | BMC Nephrology | Full Text

  https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-024-03665-0

  Membranous nephropathy (MN) is a common type of nephrotic syndrome (NS) in adults, accounting for about 2030% of cases. […] Renal biopsy and immunohistochemistry are required for patients with NS of unclear cause when necessary. […] This article describes a rare instance of NS secondary to MCL with a rash as the initial sign; following chemotherapy, the patients renal function recovered. […] Upon physical examination, there was minor edema in both lower extremities, a widely dispersed brown rash on the skin of the extremities and trunk, and slightly enlarged superficial lymph nodes palpable in the neck and axillae bilaterally. […] A renal biopsy revealed sclerosis in one out of eight evaluated glomeruli. […] Using the results of renal biopsies and IHC, we determined that the patient had SMN in order to explain the reason for the patients ongoing proteinuria.

• #36 Diagnosis and treatment of secondary nephrotic syndrome with rash as the first symptom: a case report | BMC Nephrology | Full Text

  https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882-024-03665-0

  Renal biopsy is still feasible and necessary for patients with renal insufficiency with a long clinical course, provided that the indications are met. Renal IHC plays a crucial role in the diagnosis of NS of unknown etiology. Our patient was diagnosed with MCL combined with MN by renal biopsy and IHC; following treatment under the BR regimen, his renal function improved.

• #37 Pediatric Nephrotic Syndrome Workup: Approach Considerations, Urine Studies, Blood Studies

  https://emedicine.medscape.com/article/982920-workup

  The first step in evaluating the child with edema is to establish whether nephrotic syndrome is present, because hypoalbuminemia can occur in the absence of proteinuria (such as protein-losing enteropathy), and edema can occur in the absence of hypoalbuminemia (for example, in angioedema, capillary leak, venous insufficiency, or congestive heart failure). […] In order to establish the presence of nephrotic syndrome, laboratory tests should confirm (1) nephrotic-range proteinuria, (2) hypoalbuminemia, and (3) hyperlipidemia. Therefore, initial laboratory testing should include the following: Urinalysis, Urine protein quantification (by first-morning urine protein/creatinine ratio or 24-hour urine protein measurement), Serum albumin, Lipid panel. […] Once the diagnosis of nephrotic syndrome has been established, the next step is to determine whether the nephrotic syndrome is primary (idiopathic) or secondary to a systemic disorder and, if idiopathic nephrotic syndrome (INS) has been confirmed, whether signs of chronic kidney disease, kidney insufficiency, or other renal disorders exclude the possibility of minimal change nephrotic syndrome (MCNS).

• #38 Nephrotic syndrome – Differential Diagnosis – Management – TeachMePaediatrics

  https://teachmepaediatrics.com/nephrology/renal/nephrotic-syndrome/

  Nephrotic syndrome is a glomerular disorder which presents as a classical triad of generalised oedema, heavy proteinuria (200mg/mmol) and hypoalbuminaemia (25g/L) (1). […] This article describes the epidemiology and pathophysiology of nephrotic syndrome in children, typical and atypical features, important investigations and management. […] First line investigations aim to confirm the diagnosis and to rule out any atypical features. Children presenting for the first time with typical nephrotic syndrome should be investigated with: urine dip, urinary protein:creatinine ratio, urea electrolytes, full blood count, serum albumin, varicella zoster serology. […] Further investigations would be needed if the child presented with atypical features and would be dependent on the history and advice from the renal team. Additional investigations may include complement levels, hepatitis serology, Anti-streptolysin O Titre (ASOT) and autoimmune investigations such as ANA, ANCA and anti-dsDNA.

• #39 Nephrotic syndrome – Differential Diagnosis – Management – TeachMePaediatrics

  https://teachmepaediatrics.com/nephrology/renal/nephrotic-syndrome/

  High dose steroids – first line management for children with typical nephrotic syndrome. It is important to ensure that any child with atypical features is discussed with a nephrologist prior to starting treatment as steroids may affect the results of a renal biopsy. […] The majority of children with minimal change disease will respond to steroids. This is called steroid-sensitive nephrotic syndrome (SSNS) but most will have a relapse. If they respond to a further course of steroids and eventually enter remission, then the prognosis is very favourable. […] However, some children will have more than one relapse, known as Frequently Relapsing Nephrotic Syndrome, or have steroid-resistant nephrotic syndrome (SRNS). These children may require low-dose maintenance steroid therapy or immunomodulatory drugs such as levamisole, cyclophosphamide, ciclosporin or tacrolimus.

• #40 Nephrotic syndrome in adults: symptoms and management – The Pharmaceutical Journal

  https://pharmaceutical-journal.com/article/ld/nephrotic-syndrome-in-adults-symptoms-and-management

  Nephrotic syndrome (NS) is a rare, serious and debilitating kidney condition, caused by a range of different diseases that damage the glomeruli. […] Diagnosis may be complicated by the presence of symptoms that are more commonly encountered in other conditions; for example, peripheral oedema is seen in congestive heart failure and hypoalbuminemia can be caused by severe liver disease. […] Confirmation of proteinuria is initially carried out by a dipstick urinalysis. The amount of protein is quantified by either a 24-hour urine collection or a spot urine protein-to-creatinine ratio (uPCR) with >3.5g/24 hours or uPCR>300mg/mmol indicative of nephrotic-range proteinuria. […] Once a clinical diagnosis is confirmed, further diagnostic assessment is aimed at identifying the underlying cause and assessing for complications. […] If NS is suspected, all patients should be referred to a nephrologist for further investigation and management.

• #41 Diagnosis and care of nephrotic syndrome | GPonline

  https://www.gponline.com/diagnosis-care-nephrotic-syndrome/article/743275

  Nephrotic syndrome can be a challenging condition to diagnose and manage, say Dr Stephen French and Dr Debasish Banerjee. […] It is recommended that all patients with nephrotic syndrome should be under the care of a renal physician. […] When nephrotic syndrome is suspected, recommended initial investigations include 24-hour urine collection to measure protein levels (or protein/creatinine ratio), urine microscopy, blood tests including FBC, clotting, ESR, UEs, albumin, cholesterol and blood glucose. […] Many causes of nephrotic syndrome are relapsing and remitting. Providing patients with urine dip sticks for self-monitoring of proteinuria can allow early detection of relapse so appropriate management can be instituted sooner.

• #42 Diagnosis and Management of Nephrotic Syndrome in Adults | AAFP

  https://www.aafp.org/pubs/afp/issues/2016/0315/p479.html

  New-onset edema, particularly in the lower extremities, is the most common presenting symptom of NS. Depending on disease severity, patients may have edema extending to the proximal lower extremities, lower abdomen, or genitalia. Ascites, periorbital edema, hypertension, and pleural effusion are also possible presenting features. Patients may report foamy urine, exertional dyspnea or fatigue, and significant fluid-associated weight gain.

• #43 What Is Nephrotic Syndrome?

  https://www.verywellhealth.com/nephrotic-syndrome-8670996

  The diagnosis of nephrotic syndrome starts with a review of your medical history and a physical examination to check for signs of edema. This includes pressing on swollen tissues with a thumb to see if it leaves an indentation. […] The physical would be followed by a battery of urine and blood tests to check for the presence of proteinuria, hypoalbuminemia, and hyperlipidemia. Along with the presence of edema, nephrotic syndrome can be definitively diagnosed based on the following urine and blood test results: […] Additional tests would be ordered to diagnose the possible causes of nephrotic syndrome and to check for possible complications. […] Nephrotic syndrome can be diagnosed with a physical exam and a combination of urine and blood tests. The treatment involves medications and diet that help ease symptoms and avoid disease progression. Some cases resolve spontaneously.

• #44 Nephrotic syndrome: monitoring and ongoing assessment | infoKID

  https://infokid.org.uk/conditions/nephrotic-syndrome/nephrotic-syndrome-monitoring-and-ongoing-assessment/

  Nephrotic syndrome: tests and diagnosis […] Your child will need to have medical assessments in the clinic. […] urine tests to check for protein and other substances in their urine […] blood tests to check for the amount of protein and other substances in their blood; blood tests may also be used to check their kidney function (how well their kidneys are working) […] Your child may have urine tests at the clinic or hospital to help diagnose a condition or find out how well a treatment is working. […] If your child’s nephrotic syndrome keeps coming back, this is said to be frequently relapsing and may need further treatment.

• #45 Nephrotic syndrome

  https://www.rch.org.au/clinicalguide/guideline_index/nephrotic_syndrome/

  Nephrotic syndrome is a clinical disorder characterised by heavy proteinuria, hypoalbuminaemia and oedema […] The diagnosis of nephrotic syndrome includes: Heavy proteinuria (dipstick 34+ or urine protein/creatinine ratio 0.2 g/mmol = 200 mg/mmol) […] Hypoalbuminaemia (25 g/L) […] The family should be taught to test urine protein each morning […] After remission, the urine protein should still be checked and documented every day (for at least 12 years), in order to identify a relapse (defined as 3+ or 4+ protein for 3 consecutive days), at which point the family should contact their treating clinician […] This allows for re-institution of prednisolone prior to the onset of oedema, thus avoiding the associated consequences (admission, risk of sepsis, thrombosis).

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