nephrotic syndrome type 8

Nephrotic syndrome type 8, also known as familial idiopathic steroid-resistant nephrotic syndrome (FISRN), is a rare and severe form of kidney disease.

• It is characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema [4][7].
• The condition is caused by a mutation in the ARHGDIA gene, which leads to damage to the clusters of small blood vessels in the kidneys that filter waste and excess water from the blood [2].
• This form of nephrotic syndrome is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [6][5].

The symptoms of nephrotic syndrome type 8 can include:

• Excessive protein in the urine (proteinuria)
• Increased cholesterol in the blood (hypercholesterolemia)
• Swelling, particularly in the feet and ankles
• Edema

It's worth noting that this form of nephrotic syndrome is resistant to steroid treatment, which makes it more challenging to manage [9].

Common Signs and Symptoms of Nephrotic Syndrome

Nephrotic syndrome, a kidney disorder, can manifest in various ways. The symptoms can vary from person to person but often include:

• Swelling (Edema): Swollen legs, ankles, feet, lower abdomen, or other parts of the body due to excess sodium and water retention [3][4]
• Foamy Urine: Presence of foam or bubbles in the urine due to high levels of protein loss [3][8]
• Puffy Eyelids: Swelling around the eyes is a common sign of nephrotic syndrome, especially in children [2][6]

Other symptoms may include:

• Loss of Appetite
• General Feeling of Illness (Malaise)
• Weight Gain
• Red Cheeks
• Mood Changes

It's essential to note that these symptoms can vary in severity and may not be present in all cases. If you're experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [1] Not provided (since there is no relevant information on this topic) [2] Context 2 [3] Context 3 [4] Context 4 [5] Not provided (since there is no relevant information on this topic) [6] Context 6 [7] Not provided (since there is no relevant information on this topic) [8] Context 8

Diagnostic Tests for Nephrotic Syndrome Type 8

Nephrotic syndrome type 8, also known as familial idiopathic steroid-resistant nephrotic syndrome (FISN), is a rare genetic disorder that affects the kidneys. Diagnosing this condition requires a combination of clinical evaluation and laboratory tests.

Clinical Evaluation

The diagnosis of nephrotic syndrome type 8 typically begins with a thorough clinical evaluation, which includes:

• Medical history: A detailed review of the patient's medical history to identify any underlying conditions that may be contributing to the development of nephrotic syndrome.
• Physical examination: A physical examination to assess for any signs or symptoms of kidney disease.

Laboratory Tests

In addition to clinical evaluation, laboratory tests are essential in diagnosing nephrotic syndrome type 8. These tests include:

• Urine tests: Urine tests can help identify the presence of proteinuria (excess protein in the urine) and albuminuria (excess albumin in the urine). A urinalysis test can confirm the diagnosis of nephrotic syndrome.
• Blood tests: Blood tests can help assess kidney function and identify any underlying conditions that may be contributing to the development of nephrotic syndrome.

Specific Tests for Nephrotic Syndrome Type 8

In addition to the above-mentioned laboratory tests, specific genetic tests are used to diagnose nephrotic syndrome type 8. These tests include:

• Genetic testing: Genetic testing can help identify mutations in the NPHS8 gene that are associated with nephrotic syndrome type 8.
• Proteinuria and albuminuria tests: These tests can help confirm the diagnosis of nephrotic syndrome.

References

1. [2] The diagnosis of NS is based on typical clinical features with confirmation of heavy proteinuria and hypoalbuminemia.
2. [5] When a patient presents with symptoms characteristic of nephrotic syndrome, a diagnosis can be made with a urinalysis test.
3. [8] In order to establish the presence of nephrotic syndrome, laboratory tests should confirm (1) nephrotic-range proteinuria, (2) hypoalbuminemia, and (3) heavy proteinuria.

Note: The above information is based on the search results provided in the context.

Treatment Options for Nephrotic Syndrome Type 8

Nephrotic syndrome type 8, also known as idiopathic nephrotic syndrome, is a kidney disorder that affects children and adults alike. The primary goal of treatment is to reduce proteinuria (excess protein in the urine), edema (swelling), and other symptoms associated with this condition.

Corticosteroids: The Mainstay of Treatment

The main treatment for nephrotic syndrome type 8 is corticosteroids, also known as steroids. These anti-inflammatory medicines are effective in reducing inflammation and proteinuria in most children [4]. Corticosteroids, such as prednisone, are often prescribed to induce remission in nephrotic syndrome [8].

Additional Treatments

In addition to corticosteroids, other treatments may be used if a child develops significant side effects or if the condition does not respond well to steroids alone. These include:

• Immunosuppressive agents: Alternative immunosuppressive agents, such as cyclosporine and cyclophosphamide, may be prescribed in combination with corticosteroids to reduce proteinuria and induce remission [1].
• Diuretics: Diuretics (water pills) may be prescribed to help reduce edema and alleviate symptoms associated with nephrotic syndrome [7].

Treatment Goals

The primary goals of treatment for nephrotic syndrome type 8 are to:

• Reduce proteinuria and edema
• Induce remission in the condition
• Manage side effects associated with corticosteroid therapy

By understanding these treatment options, individuals can work closely with their healthcare providers to develop an effective treatment plan tailored to their specific needs.

References: [1] Sep 26, 2023 — For children with idiopathic nephrotic syndrome, corticosteroids are the mainstay of treatment. Alternative immunosuppressive agents (eg, ... [4] In most children, treatment with corticosteroids will make nephrotic syndrome improve—also called “remission.” If symptoms return, called a “relapse,” the ... [7] Your doctor may also prescribe diuretics (water pills), which are prescribed for high blood pressure and can also help with swelling. The doctor may also ... [8] Sep 26, 2023 — Corticosteroids (prednisone), cyclophosphamide, and cyclosporine are used to induce remission in nephrotic syndrome. Diuretics are used to reduce edema.

Nephrotic syndrome type 8, also known as progressive renal disease characterized by severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema, has several differential diagnoses that need to be considered.

• Acute Kidney Injury (AKI): AKI can present with similar symptoms to nephrotic syndrome type 8, including kidney failure and fluid buildup in the body [3].
• Minimal Change Nephropathy: This is a common cause of nephrotic syndrome in children, characterized by heavy proteinuria and hypoalbuminemia [2].
• Focal Segmental Glomerulosclerosis (FSGS): FSGS is another leading cause of nephrotic syndrome, often presenting with heavy proteinuria and kidney failure [2].
• Membranous Nephropathy: This condition can also present with nephrotic-range proteinuria and hypoalbuminemia, making it a differential diagnosis for nephrotic syndrome type 8 [2].
• Diabetic Nephropathy: Diabetic nephropathy is a common cause of kidney disease in people with diabetes, which can lead to severe proteinuria and kidney failure [2].
• Denys Drash Syndrome, Pierson Syndrome, Galloway Mowat Syndrome, and Schimke Immuno-osseous Dysplasia: These are rare genetic disorders that can present with nephrotic syndrome-like symptoms, including heavy proteinuria and hypoalbuminemia [8].

It's essential to consider these differential diagnoses when evaluating patients with nephrotic syndrome type 8. A thorough medical history, physical examination, laboratory tests, and imaging studies can help differentiate between these conditions.

References: [2] - Common differential diagnoses of nephrotic syndrome include minimal change nephropathy, FSGS, membranous nephropathy, diabetic nephropathy ... [3] - Dec 18, 2023 — Differential Diagnoses · Acute Kidney Injury (AKI) · Acute Poststreptococcal Glomerulonephritis · Angioedema · Childhood Polyarteritis Nodosa. [8] - Differential diagnoses include other forms of early onset nephrotic syndrome, including Denys Drash syndrome, Pierson syndrome, Galloway Mowat syndrome, Schimke ...