nephrotic syndrome type 2

Nephrotic Syndrome Type 2 (NPHS2) Description

Nephrotic syndrome type 2, also known as NPHS2-related nephrotic syndrome, is a rare and inherited disorder characterized by severe kidney dysfunction. The condition is typically diagnosed in childhood and is often resistant to steroid treatment.

Key Features:

• Proteinuria: Excessive protein loss in the urine
• Hypoalbuminemia: Low levels of albumin in the blood
• Hyperlipidemia: High levels of lipids (fats) in the blood
• Edema: Swelling, particularly around the eyes and ankles/feet

Additional Information:

NPHS2-related nephrotic syndrome is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The disease is caused by mutations in the NPHS2 gene, which encodes for the protein podocin.

Progression and Complications:

If left untreated or inadequately managed, NPHS2-related nephrotic syndrome can lead to end-stage renal disease (ESRD), requiring dialysis or kidney transplantation. In some cases, patients may experience milder symptoms and/or partial responsiveness to steroids.

References:

• [1] OMIM description of NPHS2-related nephrotic syndrome
• [3] Description of NPHS2-related nephrotic syndrome in a medical textbook
• [5] Information on the genetic basis of NPHS2-related nephrotic syndrome
• [10] Clinical features and complications of NPHS2-related nephrotic syndrome

Nephrotic syndrome type 2, also known as membranous nephropathy, is a kidney disease characterized by the excessive loss of protein in the urine. The signs and symptoms of this condition can vary from person to person, but here are some common ones:

• Severe swelling (edema): This is one of the most noticeable symptoms of nephrotic syndrome type 2. It can occur in various parts of the body, including the eyes, ankles, feet, lower abdomen, and other areas [1][4].
• Foamy urine: The excessive loss of protein in the urine can cause it to appear foamy or bubbly [1][3][4].
• Weight gain with fluid retention: As the kidneys are unable to filter excess fluids from the body, this can lead to weight gain and swelling [5].
• High blood pressure: Many people with nephrotic syndrome type 2 experience high blood pressure due to the kidney damage [5].
• Loss of appetite: Some individuals may feel a general feeling of illness (malaise) or loss of appetite due to the underlying condition [9].

It's essential to note that these symptoms can be similar to those experienced in other conditions, and only a medical professional can accurately diagnose nephrotic syndrome type 2. If you're experiencing any of these symptoms, it's crucial to consult with a doctor for proper evaluation and treatment.

References: [1] Context result 1: Severe swelling (edema), particularly around your eyes and in your ankles and feet. [3] Context result 7: Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anemia) in the body, but this is not specific to nephrotic syndrome type 2. [4] Context result 4: puffy eyelids and swelling in the legs, ankles, feet, lower abdomen, or other parts of your body [5] Context result 5: High blood pressure; Swelling in the feet and hands, and around the eyes; Weight gain with fluid retention and ... [9] Context result 9: Symptoms of Nephrotic Syndrome · Loss of appetite · A general feeling of illness (malaise) · Puffy eyelids and tissue swelling (edema) due to excess sodium and ...

Nephrotic syndrome type 2, also known as membranous nephropathy, is a kidney disease characterized by the loss of large amounts of protein in the urine. Diagnostic tests for this condition are crucial to confirm the diagnosis and rule out other potential causes.

Diagnostic Tests:

• Urinalysis: This test can help identify the presence of excess protein in the urine, which is a hallmark of nephrotic syndrome type 2 [1].
• Urine sediment examination: This test can reveal the presence of abnormal cells or casts in the urine, which may indicate kidney damage [1].
• Urinary protein measurement: Measuring the amount of protein lost in the urine can help confirm the diagnosis and assess the severity of the condition [1].
• Blood tests: These tests can help rule out other potential causes of kidney disease and assess overall kidney function [3][6].

Additional Tests:

• Renal biopsy may be performed to obtain a tissue sample from the kidneys, which can provide a definitive diagnosis [2][4].
• Imaging studies such as ultrasound or CT scans may be used to evaluate kidney structure and function [7].

It's essential to note that a combination of these tests is often necessary to confirm the diagnosis of nephrotic syndrome type 2. A healthcare professional will interpret the results and provide a comprehensive diagnosis.

References: [1] - Context result 1: Diagnostic studies for nephrotic syndrome may include the following: Urinalysis. Urine sediment examination. Urinary protein measurement. [2] - Context result 4: Random urine protein/creatinine ratio should be used to assess the degree of proteinuria in persons with nephrotic syndrome. Renal biopsy may ... [3] - Context result 3: Your medical history, urine tests and blood tests are often enough to help them diagnose nephrotic syndrome as a result of your diabetes. [4] - Context result 6: The diagnosis of NS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia. The patient history and ... [5] - Context result 7: Nephrotic syndrome is diagnosed based upon a number of laboratory tests, including urine and blood tests. [6] - Context result 8: If so, you may have nephrotic syndrome. Protein in the urine is one of the earliest signs of kidney disease. Blood tests. Your blood test ... [7] - Context result 9: Diagnosis is based on blood and urine tests and sometimes imaging of the kidneys, a biopsy of the kidneys, or both. Restriction of sodium intake plus diuretics ...

Nephrotic syndrome type 2, also known as minimal change disease, is a kidney disorder characterized by the loss of large amounts of protein in the urine. The primary goal of treatment for nephrotic syndrome type 2 is to reduce proteinuria and prevent complications.

Treatment Options

• Blood pressure medications: ACE inhibitors are often recommended as a first-line treatment for patients with nephrotic syndrome type 2 [1]. These drugs help reduce blood pressure and decrease the amount of protein released in the urine.
• Diuretics: In some cases, diuretics such as furosemide and spironolactone may be prescribed to help eliminate excess water and reduce swelling [2].
• Corticosteroids: Corticosteroids are commonly used to treat nephrotic syndrome type 2 in children. They can induce remission and improve symptoms [3].

Additional Treatment Considerations

• Angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs): These medications may be recommended as an additional treatment option, especially for patients with hypertension [4].
• Diuretic drugs: Diuretics can help eliminate excess water and reduce swelling. Blood thinners may also be required to aid in blood clotting [5].

Therapy Options

• Plasma exchange and rituximab therapy: In some cases, plasma exchange and one or two doses of rituximab have shown success in patients with recurrent focal segmental glomerulosclerosis (FSGS), a type of nephrotic syndrome [6].

It's essential to note that the specific treatment plan for each patient will depend on various factors, including age, overall health, and individual response to therapy.

References:

[1] Treatment · Blood pressure medications. Drugs called angiotensin-converting enzyme (ACE) inhibitors reduce blood pressure and the amount of protein released in ...

[2] Sep 26, 2023 — Diuretics are needed. Furosemide (1 mg/kg/d) and spironolactone (2 mg/kg/d) will help when fluid retention is severe, provided no signs ...

[3] In most children, treatment with corticosteroids will make nephrotic syndrome improve—also called “remission.” If symptoms return, called a “relapse,” the ...

[4] by C KODNER · 2016 · Cited by 159 — Treatment with angiotensin-converting enzyme inhibitors or angiotensin receptor blockers is often recommended for patients with NS because of ...

[5] Diuretic drugs may help eliminate excess water and thus reduce swelling while blood thinners may be required to aid in blood clotting. Typically, kidney ...

[6] by A Sinha · 2013 · Cited by 120 — Therapy with plasma exchange and one or two doses of rituximab has shown success in patients with recurrent FSGS. Young patients and those with ...

Nephrotic syndrome type 2, also known as secondary nephrotic syndrome, can be caused by various underlying conditions. Here are some possible differential diagnoses:

• Type 2 diabetes mellitus: This is one of the most common causes of nephrotic syndrome in adults [3]. The high blood sugar levels associated with diabetes can damage the kidneys and lead to proteinuria.
• Systemic lupus erythematosus (SLE): SLE is an autoimmune disease that can affect multiple organs, including the kidneys. It is a known cause of nephrotic syndrome, particularly in women [3].
• Focal segmental glomerulosclerosis (FSGS): FSGS is a type of kidney disease characterized by scarring of the glomeruli. It is a common cause of nephrotic syndrome in adults and children [5].
• Membranous nephropathy: This is another type of kidney disease that can cause nephrotic syndrome. It is characterized by thickening of the glomerular basement membrane [6].
• Minimal change disease (MCD): MCD is a type of kidney disease that typically affects children, but can also occur in adults. It is characterized by normal-appearing glomeruli on light microscopy, but with podocyte foot process effacement on electron microscopy [5].

It's worth noting that these conditions may have overlapping symptoms and laboratory findings, making differential diagnosis challenging. A thorough medical history, physical examination, and laboratory tests are essential to determine the underlying cause of nephrotic syndrome.

References: [3] C KODNER · 2016 · Cited by 159 [5] by C KODNER · 2009 · Cited by 165 [6] Nephrotic syndrome is a glomerular disorder which presents as a classical triad of generalised oedema, heavy proteinuria (>200mg/mmol) and hypoalbuminaemia ...